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class="js-profile-view-count"></span></p></div></span></div><div class="ri-section"><div class="ri-section-header"><span>Interests</span></div><div class="ri-tags-container"><a data-click-track="profile-user-info-expand-research-interests" data-has-card-for-ri-list="31600762" href="https://www.academia.edu/Documents/in/Human_Genetics"><div id="js-react-on-rails-context" style="display:none" data-rails-context="{"inMailer":false,"i18nLocale":"en","i18nDefaultLocale":"en","href":"https://independent.academia.edu/NancyHamel","location":"/NancyHamel","scheme":"https","host":"independent.academia.edu","port":null,"pathname":"/NancyHamel","search":null,"httpAcceptLanguage":null,"serverSide":false}"></div> <div class="js-react-on-rails-component" style="display:none" data-component-name="Pill" data-props="{"color":"gray","children":["Human Genetics"]}" data-trace="false" data-dom-id="Pill-react-component-b8fe4f76-99c0-4aa5-8e8b-3d3e385d0c4a"></div> <div 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id="Pill-react-component-a6a151b6-8000-45c2-a949-e4cc86abefbf"></div> </a></div></div></div></div><div class="right-panel-container"><div class="user-content-wrapper"><div class="uploads-container" id="social-redesign-work-container"><div class="upload-header"><h2 class="ds2-5-heading-sans-serif-xs">Uploads</h2></div><div class="documents-container backbone-social-profile-documents" style="width: 100%;"><div class="u-taCenter"></div><div class="profile--tab_content_container js-tab-pane tab-pane active" id="all"><div class="profile--tab_heading_container js-section-heading" data-section="Papers" id="Papers"><h3 class="profile--tab_heading_container">Papers by Nancy Hamel</h3></div><div class="js-work-strip profile--work_container" data-work-id="12632520"><div class="profile--work_thumbnail hidden-xs"><a class="js-work-strip-work-link" data-click-track="profile-work-strip-thumbnail" href="https://www.academia.edu/12632520/Germline_RECQL_mutations_are_associated_with_breast_cancer_susceptibility"><img alt="Research paper thumbnail of Germline RECQL mutations are associated with breast cancer susceptibility" class="work-thumbnail" src="https://attachments.academia-assets.com/46037465/thumbnails/1.jpg" /></a></div><div class="wp-workCard wp-workCard_itemContainer"><div class="wp-workCard_item wp-workCard--title"><a class="js-work-strip-work-link text-gray-darker" data-click-track="profile-work-strip-title" href="https://www.academia.edu/12632520/Germline_RECQL_mutations_are_associated_with_breast_cancer_susceptibility">Germline RECQL mutations are associated with breast cancer susceptibility</a></div><div class="wp-workCard_item"><span>Nature Genetics</span><span>, 2015</span></div><div class="wp-workCard_item wp-workCard--actions"><span class="work-strip-bookmark-button-container"></span><a id="e21046656d7825bb1de8df5007ad87c3" class="wp-workCard--action" 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window.Academia.workViewCountsFetcher.queue(workId, function (count) { var description = window.$h.commaizeInt(count) + " " + window.$h.pluralize(count, 'View'); $(".js-view-count[data-work-id=12632520]").text(description); $(".js-view-count[data-work-id=12632520]").attr('title', description).tooltip(); }); });</script></span></span><span><span class="percentile-widget hidden"><span class="u-mr2x work-percentile"></span></span><script>$(function () { var workId = 12632520; window.Academia.workPercentilesFetcher.queue(workId, function (percentileText) { var container = $(".js-work-strip[data-work-id='12632520']"); container.find('.work-percentile').text(percentileText.charAt(0).toUpperCase() + percentileText.slice(1)); container.find('.percentile-widget').show(); container.find('.percentile-widget').removeClass('hidden'); }); });</script></span><span><script>$(function() { new Works.PaperRankView({ workId: 12632520, container: "", }); });</script></span></div><div id="work-strip-premium-row-container"></div></div></div><script> require.config({ waitSeconds: 90 })(["https://a.academia-assets.com/assets/wow_profile-f77ea15d77ce96025a6048a514272ad8becbad23c641fc2b3bd6e24ca6ff1932.js","https://a.academia-assets.com/assets/work_edit-ad038b8c047c1a8d4fa01b402d530ff93c45fee2137a149a4a5398bc8ad67560.js"], function() { // from javascript_helper.rb var dispatcherData = {} if (true){ window.WowProfile.dispatcher = window.WowProfile.dispatcher || _.clone(Backbone.Events); dispatcherData = { dispatcher: window.WowProfile.dispatcher, downloadLinkId: "e21046656d7825bb1de8df5007ad87c3" } } $('.js-work-strip[data-work-id=12632520]').each(function() { if (!$(this).data('initialized')) { new WowProfile.WorkStripView({ el: this, workJSON: {"id":12632520,"title":"Germline RECQL mutations are associated with breast cancer susceptibility","translated_title":"","metadata":{"grobid_abstract":"Nature GeNetics ADVANCE ONLINE PUBLICATION l e t t e r s Several moderate- and high-risk breast cancer susceptibility genes have been discovered, but more are likely to exist. To discover new breast cancer susceptibility genes, we used 2 populations (from Poland and Quebec, Canada) and applied whole-exome sequencing in a discovery phase (n = 95), followed by validation. We identified rare recurrent RECQL mutations in each population. In Quebec, 7 of ,03 higher-risk breast cancer cases and of 7,36 newborns carried the c.634C\u003eT (p.Arg25*) variant (P = 0.00004). In Poland, 30 of 3,36 unselected breast cancer cases and 2 of 4,702 controls carried the c.667_667+3delAGTA (p.K555delinsMYKLIHYSFR) variant (P = 0.008). RECQL is implicated in resolving stalled DNA replication forks to prevent double-stranded DNA (dsDNA) breaks. This function is related to that of other known breast cancer susceptibility genes, many of which are involved in repairing dsDNA breaks. We conclude that RECQL is a breast cancer susceptibility gene.","publication_date":{"day":null,"month":null,"year":2015,"errors":{}},"publication_name":"Nature Genetics","grobid_abstract_attachment_id":46037465},"translated_abstract":null,"internal_url":"https://www.academia.edu/12632520/Germline_RECQL_mutations_are_associated_with_breast_cancer_susceptibility","translated_internal_url":"","created_at":"2015-05-27T09:37:37.111-07:00","preview_url":null,"current_user_can_edit":null,"current_user_is_owner":null,"owner_id":31600762,"coauthors_can_edit":true,"document_type":"paper","co_author_tags":[],"downloadable_attachments":[{"id":46037465,"title":"","file_type":"pdf","scribd_thumbnail_url":"https://attachments.academia-assets.com/46037465/thumbnails/1.jpg","file_name":"Germline_RECQL_mutations_are_associated_20160529-27068-6dzi0c.pdf","download_url":"https://www.academia.edu/attachments/46037465/download_file?st=MTczMjk5MzEwNyw4LjIyMi4yMDguMTQ2&","bulk_download_file_name":"Germline_RECQL_mutations_are_associated.pdf","bulk_download_url":"https://d1wqtxts1xzle7.cloudfront.net/46037465/Germline_RECQL_mutations_are_associated_20160529-27068-6dzi0c-libre.pdf?1464514406=\u0026response-content-disposition=attachment%3B+filename%3DGermline_RECQL_mutations_are_associated.pdf\u0026Expires=1732996707\u0026Signature=PLGcLfS7dMihdzoVQPl-uorbnsC69LBfal2KviosPo5l623m3G-cA1YDIuDn1wmLx6xUO-7U363XvFtDj1pQWZalynR8cI8zVvqefso3tufs0yCGhS4vzkaTr0Ti0vQsxWBRKTVO5-xStJPUMoKKdF~Q1DshvJlIZZTfdZo8D-FszZYu0EM6HpQMBXLfjthCeu9q-eWQAWrvCzVNrXau1p1SpdIJjQzGtiA0hPhec~uBf14hjK3qFHhdcDOEs65pWJpvIMVX0hElv2bN9L1~xpqQLNp~54RA7-Yv3xQd33ly-f7zs8buv1kWrPjKLTIcdFJpkdLK-D9cQ4KvGxnQyw__\u0026Key-Pair-Id=APKAJLOHF5GGSLRBV4ZA"}],"slug":"Germline_RECQL_mutations_are_associated_with_breast_cancer_susceptibility","translated_slug":"","page_count":7,"language":"en","content_type":"Work","owner":{"id":31600762,"first_name":"Nancy","middle_initials":null,"last_name":"Hamel","page_name":"NancyHamel","domain_name":"independent","created_at":"2015-05-27T09:36:34.282-07:00","display_name":"Nancy Hamel","url":"https://independent.academia.edu/NancyHamel"},"attachments":[{"id":46037465,"title":"","file_type":"pdf","scribd_thumbnail_url":"https://attachments.academia-assets.com/46037465/thumbnails/1.jpg","file_name":"Germline_RECQL_mutations_are_associated_20160529-27068-6dzi0c.pdf","download_url":"https://www.academia.edu/attachments/46037465/download_file?st=MTczMjk5MzEwNyw4LjIyMi4yMDguMTQ2&","bulk_download_file_name":"Germline_RECQL_mutations_are_associated.pdf","bulk_download_url":"https://d1wqtxts1xzle7.cloudfront.net/46037465/Germline_RECQL_mutations_are_associated_20160529-27068-6dzi0c-libre.pdf?1464514406=\u0026response-content-disposition=attachment%3B+filename%3DGermline_RECQL_mutations_are_associated.pdf\u0026Expires=1732996707\u0026Signature=PLGcLfS7dMihdzoVQPl-uorbnsC69LBfal2KviosPo5l623m3G-cA1YDIuDn1wmLx6xUO-7U363XvFtDj1pQWZalynR8cI8zVvqefso3tufs0yCGhS4vzkaTr0Ti0vQsxWBRKTVO5-xStJPUMoKKdF~Q1DshvJlIZZTfdZo8D-FszZYu0EM6HpQMBXLfjthCeu9q-eWQAWrvCzVNrXau1p1SpdIJjQzGtiA0hPhec~uBf14hjK3qFHhdcDOEs65pWJpvIMVX0hElv2bN9L1~xpqQLNp~54RA7-Yv3xQd33ly-f7zs8buv1kWrPjKLTIcdFJpkdLK-D9cQ4KvGxnQyw__\u0026Key-Pair-Id=APKAJLOHF5GGSLRBV4ZA"}],"research_interests":[{"id":47884,"name":"Biological Sciences","url":"https://www.academia.edu/Documents/in/Biological_Sciences"},{"id":125069,"name":"Genetic Association Studies","url":"https://www.academia.edu/Documents/in/Genetic_Association_Studies"},{"id":188349,"name":"Pedigree","url":"https://www.academia.edu/Documents/in/Pedigree"},{"id":809882,"name":"Base Sequence","url":"https://www.academia.edu/Documents/in/Base_Sequence"},{"id":1819399,"name":"Case Control Studies","url":"https://www.academia.edu/Documents/in/Case_Control_Studies"},{"id":2196342,"name":"RecQ Helicases","url":"https://www.academia.edu/Documents/in/RecQ_Helicases"},{"id":2467566,"name":"Molecular Sequence Data","url":"https://www.academia.edu/Documents/in/Molecular_Sequence_Data"}],"urls":[]}, dispatcherData: dispatcherData }); $(this).data('initialized', true); } }); $a.trackClickSource(".js-work-strip-work-link", "profile_work_strip") }); </script> <div class="js-work-strip profile--work_container" data-work-id="12632518"><div class="profile--work_thumbnail hidden-xs"><a class="js-work-strip-work-link" data-click-track="profile-work-strip-thumbnail" href="https://www.academia.edu/12632518/Mutation_analysis_of_RAD51D_in_non_BRCA1_2_ovarian_and_breast_cancer_families"><img alt="Research paper thumbnail of Mutation analysis of RAD51D in non-BRCA1/2 ovarian and breast cancer families" class="work-thumbnail" src="https://attachments.academia-assets.com/46037441/thumbnails/1.jpg" /></a></div><div class="wp-workCard wp-workCard_itemContainer"><div class="wp-workCard_item wp-workCard--title"><a class="js-work-strip-work-link text-gray-darker" data-click-track="profile-work-strip-title" href="https://www.academia.edu/12632518/Mutation_analysis_of_RAD51D_in_non_BRCA1_2_ovarian_and_breast_cancer_families">Mutation analysis of RAD51D in non-BRCA1/2 ovarian and breast cancer families</a></div><div class="wp-workCard_item"><span>British journal of cancer</span><span>, Jan 10, 2012</span></div><div class="wp-workCard_item"><span class="js-work-more-abstract-truncated">Recent data show that mutations in RAD51D have an aetiological role in ovarian carcinoma, yet mut...</span><a class="js-work-more-abstract" data-broccoli-component="work_strip.more_abstract" data-click-track="profile-work-strip-more-abstract" href="javascript:;"><span> more </span><span><i class="fa fa-caret-down"></i></span></a><span class="js-work-more-abstract-untruncated hidden">Recent data show that mutations in RAD51D have an aetiological role in ovarian carcinoma, yet mutations do not appear to be associated with an increased risk for breast cancer. We studied ovarian and breast cancer families having at least one woman affected by ovarian carcinoma, to assess the importance of RAD51D mutations in such families. The coding region of the RAD51D gene was analysed in 175 BRCA1/2-negative families with family histories of both ovarian and breast cancer ascertained from two Canadian and two Belgian institutions. We identified one previously reported deleterious mutation, p.Arg186(*) (c.556C&gt;T), and two novel variants; missense substitution p.Cys119Arg and an intronic variant c.83-26A&gt;G. p.Arg186(*) segregated with the disease in the family and two ovarian carcinomas available for analysis showed loss of the wild-type allele, but the novel variants are likely neutral. RAD51D should be included in genetic screening of ovarian cancer families that do not h...</span></div><div class="wp-workCard_item wp-workCard--actions"><span class="work-strip-bookmark-button-container"></span><a id="99ecb06981b7532afa23b35b2364369f" class="wp-workCard--action" rel="nofollow" data-click-track="profile-work-strip-download" data-download="{"attachment_id":46037441,"asset_id":12632518,"asset_type":"Work","button_location":"profile"}" href="https://www.academia.edu/attachments/46037441/download_file?st=MTczMjk5MzEwNyw4LjIyMi4yMDguMTQ2&s=profile"><span><i class="fa fa-arrow-down"></i></span><span>Download</span></a><span class="wp-workCard--action visible-if-viewed-by-owner inline-block" style="display: none;"><span class="js-profile-work-strip-edit-button-wrapper profile-work-strip-edit-button-wrapper" data-work-id="12632518"><a class="js-profile-work-strip-edit-button" tabindex="0"><span><i class="fa fa-pencil"></i></span><span>Edit</span></a></span></span><span id="work-strip-rankings-button-container"></span></div><div class="wp-workCard_item wp-workCard--stats"><span><span><span class="js-view-count view-count u-mr2x" data-work-id="12632518"><i class="fa fa-spinner fa-spin"></i></span><script>$(function () { var workId = 12632518; window.Academia.workViewCountsFetcher.queue(workId, function (count) { var description = window.$h.commaizeInt(count) + " " + window.$h.pluralize(count, 'View'); $(".js-view-count[data-work-id=12632518]").text(description); $(".js-view-count[data-work-id=12632518]").attr('title', description).tooltip(); }); });</script></span></span><span><span class="percentile-widget hidden"><span class="u-mr2x work-percentile"></span></span><script>$(function () { var workId = 12632518; window.Academia.workPercentilesFetcher.queue(workId, function (percentileText) { var container = $(".js-work-strip[data-work-id='12632518']"); container.find('.work-percentile').text(percentileText.charAt(0).toUpperCase() + percentileText.slice(1)); container.find('.percentile-widget').show(); container.find('.percentile-widget').removeClass('hidden'); }); });</script></span><span><script>$(function() { new Works.PaperRankView({ workId: 12632518, container: "", }); });</script></span></div><div id="work-strip-premium-row-container"></div></div></div><script> require.config({ waitSeconds: 90 })(["https://a.academia-assets.com/assets/wow_profile-f77ea15d77ce96025a6048a514272ad8becbad23c641fc2b3bd6e24ca6ff1932.js","https://a.academia-assets.com/assets/work_edit-ad038b8c047c1a8d4fa01b402d530ff93c45fee2137a149a4a5398bc8ad67560.js"], function() { // from javascript_helper.rb var dispatcherData = {} if (true){ window.WowProfile.dispatcher = window.WowProfile.dispatcher || _.clone(Backbone.Events); dispatcherData = { dispatcher: window.WowProfile.dispatcher, downloadLinkId: "99ecb06981b7532afa23b35b2364369f" } } $('.js-work-strip[data-work-id=12632518]').each(function() { if (!$(this).data('initialized')) { new WowProfile.WorkStripView({ el: this, workJSON: {"id":12632518,"title":"Mutation analysis of RAD51D in non-BRCA1/2 ovarian and breast cancer families","translated_title":"","metadata":{"abstract":"Recent data show that mutations in RAD51D have an aetiological role in ovarian carcinoma, yet mutations do not appear to be associated with an increased risk for breast cancer. We studied ovarian and breast cancer families having at least one woman affected by ovarian carcinoma, to assess the importance of RAD51D mutations in such families. The coding region of the RAD51D gene was analysed in 175 BRCA1/2-negative families with family histories of both ovarian and breast cancer ascertained from two Canadian and two Belgian institutions. We identified one previously reported deleterious mutation, p.Arg186(*) (c.556C\u0026gt;T), and two novel variants; missense substitution p.Cys119Arg and an intronic variant c.83-26A\u0026gt;G. p.Arg186(*) segregated with the disease in the family and two ovarian carcinomas available for analysis showed loss of the wild-type allele, but the novel variants are likely neutral. RAD51D should be included in genetic screening of ovarian cancer families that do not h...","publication_date":{"day":10,"month":1,"year":2012,"errors":{}},"publication_name":"British journal of cancer"},"translated_abstract":"Recent data show that mutations in RAD51D have an aetiological role in ovarian carcinoma, yet mutations do not appear to be associated with an increased risk for breast cancer. We studied ovarian and breast cancer families having at least one woman affected by ovarian carcinoma, to assess the importance of RAD51D mutations in such families. The coding region of the RAD51D gene was analysed in 175 BRCA1/2-negative families with family histories of both ovarian and breast cancer ascertained from two Canadian and two Belgian institutions. We identified one previously reported deleterious mutation, p.Arg186(*) (c.556C\u0026gt;T), and two novel variants; missense substitution p.Cys119Arg and an intronic variant c.83-26A\u0026gt;G. p.Arg186(*) segregated with the disease in the family and two ovarian carcinomas available for analysis showed loss of the wild-type allele, but the novel variants are likely neutral. RAD51D should be included in genetic screening of ovarian cancer families that do not h...","internal_url":"https://www.academia.edu/12632518/Mutation_analysis_of_RAD51D_in_non_BRCA1_2_ovarian_and_breast_cancer_families","translated_internal_url":"","created_at":"2015-05-27T09:37:36.273-07:00","preview_url":null,"current_user_can_edit":null,"current_user_is_owner":null,"owner_id":31600762,"coauthors_can_edit":true,"document_type":"paper","co_author_tags":[],"downloadable_attachments":[{"id":46037441,"title":"","file_type":"pdf","scribd_thumbnail_url":"https://attachments.academia-assets.com/46037441/thumbnails/1.jpg","file_name":"Mutation_analysis_of_RAD51D_in_non-BRCA120160529-11605-g8mmgd.pdf","download_url":"https://www.academia.edu/attachments/46037441/download_file?st=MTczMjk5MzEwNyw4LjIyMi4yMDguMTQ2&","bulk_download_file_name":"Mutation_analysis_of_RAD51D_in_non_BRCA1.pdf","bulk_download_url":"https://d1wqtxts1xzle7.cloudfront.net/46037441/Mutation_analysis_of_RAD51D_in_non-BRCA120160529-11605-g8mmgd-libre.pdf?1464514405=\u0026response-content-disposition=attachment%3B+filename%3DMutation_analysis_of_RAD51D_in_non_BRCA1.pdf\u0026Expires=1732996707\u0026Signature=RmcAaSbI1zo2NCDT-sIaZLFsPxkB7D~JT9HJRxhed4gr-JzJ3S0XboR~W5x9xOnAbuq1AEE3csZBK8VmuM4zKgXUruFHlfFQx0BoZGwf3ULrJBW6jHNVDQmUq1kIsl9bRIHGKIdCk0fi11dQPIvUhjSzLd4MFARbScoY9nBxyN0LQPqKEynIgMyUEQG6JRu6Qx2y5bOZjhhtLaGqKh1da2pTxzxwSuzag62hp8NM-32oSlDUpbv7UhPVmw~I96uZBekZckEtZvWTnXS6jSGWItEmY11laKzqS5GfP3Vlsi8ZyB73JPZeCk3ZKBIOab7y9~S0TJMCzFNXzG6920kOWg__\u0026Key-Pair-Id=APKAJLOHF5GGSLRBV4ZA"}],"slug":"Mutation_analysis_of_RAD51D_in_non_BRCA1_2_ovarian_and_breast_cancer_families","translated_slug":"","page_count":4,"language":"en","content_type":"Work","owner":{"id":31600762,"first_name":"Nancy","middle_initials":null,"last_name":"Hamel","page_name":"NancyHamel","domain_name":"independent","created_at":"2015-05-27T09:36:34.282-07:00","display_name":"Nancy Hamel","url":"https://independent.academia.edu/NancyHamel"},"attachments":[{"id":46037441,"title":"","file_type":"pdf","scribd_thumbnail_url":"https://attachments.academia-assets.com/46037441/thumbnails/1.jpg","file_name":"Mutation_analysis_of_RAD51D_in_non-BRCA120160529-11605-g8mmgd.pdf","download_url":"https://www.academia.edu/attachments/46037441/download_file?st=MTczMjk5MzEwNyw4LjIyMi4yMDguMTQ2&","bulk_download_file_name":"Mutation_analysis_of_RAD51D_in_non_BRCA1.pdf","bulk_download_url":"https://d1wqtxts1xzle7.cloudfront.net/46037441/Mutation_analysis_of_RAD51D_in_non-BRCA120160529-11605-g8mmgd-libre.pdf?1464514405=\u0026response-content-disposition=attachment%3B+filename%3DMutation_analysis_of_RAD51D_in_non_BRCA1.pdf\u0026Expires=1732996707\u0026Signature=RmcAaSbI1zo2NCDT-sIaZLFsPxkB7D~JT9HJRxhed4gr-JzJ3S0XboR~W5x9xOnAbuq1AEE3csZBK8VmuM4zKgXUruFHlfFQx0BoZGwf3ULrJBW6jHNVDQmUq1kIsl9bRIHGKIdCk0fi11dQPIvUhjSzLd4MFARbScoY9nBxyN0LQPqKEynIgMyUEQG6JRu6Qx2y5bOZjhhtLaGqKh1da2pTxzxwSuzag62hp8NM-32oSlDUpbv7UhPVmw~I96uZBekZckEtZvWTnXS6jSGWItEmY11laKzqS5GfP3Vlsi8ZyB73JPZeCk3ZKBIOab7y9~S0TJMCzFNXzG6920kOWg__\u0026Key-Pair-Id=APKAJLOHF5GGSLRBV4ZA"}],"research_interests":[{"id":73153,"name":"Genetic Testing","url":"https://www.academia.edu/Documents/in/Genetic_Testing"},{"id":74780,"name":"Mutation","url":"https://www.academia.edu/Documents/in/Mutation"},{"id":188349,"name":"Pedigree","url":"https://www.academia.edu/Documents/in/Pedigree"},{"id":901876,"name":"Sensitivity and Specificity","url":"https://www.academia.edu/Documents/in/Sensitivity_and_Specificity"},{"id":1186610,"name":"DNA binding proteins","url":"https://www.academia.edu/Documents/in/DNA_binding_proteins"}],"urls":[]}, dispatcherData: dispatcherData }); $(this).data('initialized', true); } }); $a.trackClickSource(".js-work-strip-work-link", "profile_work_strip") }); </script> <div class="js-work-strip profile--work_container" data-work-id="12632517"><div class="profile--work_thumbnail hidden-xs"><a class="js-work-strip-work-link" data-click-track="profile-work-strip-thumbnail" href="https://www.academia.edu/12632517/Ovarian_embryonal_rhabdomyosarcoma_is_a_rare_manifestation_of_the_DICER1_syndrome"><img alt="Research paper thumbnail of Ovarian embryonal rhabdomyosarcoma is a rare manifestation of the DICER1 syndrome" class="work-thumbnail" src="https://a.academia-assets.com/images/blank-paper.jpg" /></a></div><div class="wp-workCard wp-workCard_itemContainer"><div class="wp-workCard_item wp-workCard--title"><a class="js-work-strip-work-link text-gray-darker" data-click-track="profile-work-strip-title" href="https://www.academia.edu/12632517/Ovarian_embryonal_rhabdomyosarcoma_is_a_rare_manifestation_of_the_DICER1_syndrome">Ovarian embryonal rhabdomyosarcoma is a rare manifestation of the DICER1 syndrome</a></div><div class="wp-workCard_item"><span>Human Pathology</span><span>, 2015</span></div><div class="wp-workCard_item"><span class="js-work-more-abstract-truncated">Embryonal rhabdomyosarcoma (ERMS), a soft tissue sarcoma, is one of the most common pediatric can...</span><a class="js-work-more-abstract" data-broccoli-component="work_strip.more_abstract" data-click-track="profile-work-strip-more-abstract" href="javascript:;"><span> more </span><span><i class="fa fa-caret-down"></i></span></a><span class="js-work-more-abstract-untruncated hidden">Embryonal rhabdomyosarcoma (ERMS), a soft tissue sarcoma, is one of the most common pediatric cancers. Certain ERMSs are associated with the DICER1 syndrome, a tumor predisposition syndrome caused by germ-line DICER1 mutations. Characteristic somatic mutations have also been identified in DICER1-associated tumor types. These &amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;quot;hotspot&amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;quot; mutations affect the catalytic activity of the DICER1 ribonuclease IIIb domain. Primary ovarian ERMS (oERMS) is extremely rare. We present a case of a 6-year-old girl with an oERMS harboring 2 DICER1 mutations. The girl also exhibited other DICER1 phenotypes: cystic nephroma (CN) and multinodular goiter. Somatic investigations of the CN identified a hotspot DICER1 mutation different from that in the oERMS. Significantly, the CN presented at 12 years of age, which is much older than the previously reported age range of susceptibility. This report documents the occurrence of DICER1 mutations in a case of oERMS, expanding the spectrum of DICER1-associated tumors.</span></div><div class="wp-workCard_item wp-workCard--actions"><span class="work-strip-bookmark-button-container"></span><span class="wp-workCard--action visible-if-viewed-by-owner inline-block" style="display: none;"><span class="js-profile-work-strip-edit-button-wrapper profile-work-strip-edit-button-wrapper" data-work-id="12632517"><a class="js-profile-work-strip-edit-button" tabindex="0"><span><i class="fa fa-pencil"></i></span><span>Edit</span></a></span></span><span id="work-strip-rankings-button-container"></span></div><div class="wp-workCard_item wp-workCard--stats"><span><span><span class="js-view-count view-count u-mr2x" data-work-id="12632517"><i class="fa fa-spinner fa-spin"></i></span><script>$(function () { var workId = 12632517; window.Academia.workViewCountsFetcher.queue(workId, function (count) { var description = window.$h.commaizeInt(count) + " " + window.$h.pluralize(count, 'View'); $(".js-view-count[data-work-id=12632517]").text(description); $(".js-view-count[data-work-id=12632517]").attr('title', description).tooltip(); }); });</script></span></span><span><span class="percentile-widget hidden"><span class="u-mr2x work-percentile"></span></span><script>$(function () { var workId = 12632517; window.Academia.workPercentilesFetcher.queue(workId, function (percentileText) { var container = $(".js-work-strip[data-work-id='12632517']"); container.find('.work-percentile').text(percentileText.charAt(0).toUpperCase() + percentileText.slice(1)); container.find('.percentile-widget').show(); container.find('.percentile-widget').removeClass('hidden'); }); });</script></span><span><script>$(function() { new Works.PaperRankView({ workId: 12632517, container: "", }); });</script></span></div><div id="work-strip-premium-row-container"></div></div></div><script> require.config({ waitSeconds: 90 })(["https://a.academia-assets.com/assets/wow_profile-f77ea15d77ce96025a6048a514272ad8becbad23c641fc2b3bd6e24ca6ff1932.js","https://a.academia-assets.com/assets/work_edit-ad038b8c047c1a8d4fa01b402d530ff93c45fee2137a149a4a5398bc8ad67560.js"], function() { // from javascript_helper.rb var dispatcherData = {} if (false){ window.WowProfile.dispatcher = window.WowProfile.dispatcher || _.clone(Backbone.Events); dispatcherData = { dispatcher: window.WowProfile.dispatcher, downloadLinkId: "-1" } } $('.js-work-strip[data-work-id=12632517]').each(function() { if (!$(this).data('initialized')) { new WowProfile.WorkStripView({ el: this, workJSON: {"id":12632517,"title":"Ovarian embryonal rhabdomyosarcoma is a rare manifestation of the DICER1 syndrome","translated_title":"","metadata":{"abstract":"Embryonal rhabdomyosarcoma (ERMS), a soft tissue sarcoma, is one of the most common pediatric cancers. Certain ERMSs are associated with the DICER1 syndrome, a tumor predisposition syndrome caused by germ-line DICER1 mutations. Characteristic somatic mutations have also been identified in DICER1-associated tumor types. These \u0026amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;quot;hotspot\u0026amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;quot; mutations affect the catalytic activity of the DICER1 ribonuclease IIIb domain. Primary ovarian ERMS (oERMS) is extremely rare. We present a case of a 6-year-old girl with an oERMS harboring 2 DICER1 mutations. The girl also exhibited other DICER1 phenotypes: cystic nephroma (CN) and multinodular goiter. Somatic investigations of the CN identified a hotspot DICER1 mutation different from that in the oERMS. Significantly, the CN presented at 12 years of age, which is much older than the previously reported age range of susceptibility. This report documents the occurrence of DICER1 mutations in a case of oERMS, expanding the spectrum of DICER1-associated tumors.","publication_date":{"day":null,"month":null,"year":2015,"errors":{}},"publication_name":"Human Pathology"},"translated_abstract":"Embryonal rhabdomyosarcoma (ERMS), a soft tissue sarcoma, is one of the most common pediatric cancers. Certain ERMSs are associated with the DICER1 syndrome, a tumor predisposition syndrome caused by germ-line DICER1 mutations. Characteristic somatic mutations have also been identified in DICER1-associated tumor types. These \u0026amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;quot;hotspot\u0026amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;quot; mutations affect the catalytic activity of the DICER1 ribonuclease IIIb domain. Primary ovarian ERMS (oERMS) is extremely rare. We present a case of a 6-year-old girl with an oERMS harboring 2 DICER1 mutations. The girl also exhibited other DICER1 phenotypes: cystic nephroma (CN) and multinodular goiter. Somatic investigations of the CN identified a hotspot DICER1 mutation different from that in the oERMS. Significantly, the CN presented at 12 years of age, which is much older than the previously reported age range of susceptibility. This report documents the occurrence of DICER1 mutations in a case of oERMS, expanding the spectrum of DICER1-associated tumors.","internal_url":"https://www.academia.edu/12632517/Ovarian_embryonal_rhabdomyosarcoma_is_a_rare_manifestation_of_the_DICER1_syndrome","translated_internal_url":"","created_at":"2015-05-27T09:37:36.161-07:00","preview_url":null,"current_user_can_edit":null,"current_user_is_owner":null,"owner_id":31600762,"coauthors_can_edit":true,"document_type":"paper","co_author_tags":[],"downloadable_attachments":[],"slug":"Ovarian_embryonal_rhabdomyosarcoma_is_a_rare_manifestation_of_the_DICER1_syndrome","translated_slug":"","page_count":null,"language":"en","content_type":"Work","owner":{"id":31600762,"first_name":"Nancy","middle_initials":null,"last_name":"Hamel","page_name":"NancyHamel","domain_name":"independent","created_at":"2015-05-27T09:36:34.282-07:00","display_name":"Nancy Hamel","url":"https://independent.academia.edu/NancyHamel"},"attachments":[],"research_interests":[{"id":52523,"name":"miRNA","url":"https://www.academia.edu/Documents/in/miRNA"},{"id":64933,"name":"Child","url":"https://www.academia.edu/Documents/in/Child"},{"id":74780,"name":"Mutation","url":"https://www.academia.edu/Documents/in/Mutation"},{"id":213897,"name":"Phenotype","url":"https://www.academia.edu/Documents/in/Phenotype"},{"id":244814,"name":"Clinical Sciences","url":"https://www.academia.edu/Documents/in/Clinical_Sciences"},{"id":295854,"name":"microRNAs","url":"https://www.academia.edu/Documents/in/microRNAs"},{"id":674257,"name":"Human Pathology","url":"https://www.academia.edu/Documents/in/Human_Pathology"},{"id":869175,"name":"Ovary","url":"https://www.academia.edu/Documents/in/Ovary"}],"urls":[]}, dispatcherData: dispatcherData }); $(this).data('initialized', true); } }); $a.trackClickSource(".js-work-strip-work-link", "profile_work_strip") }); </script> <div class="js-work-strip profile--work_container" data-work-id="12632516"><div class="profile--work_thumbnail hidden-xs"><a class="js-work-strip-work-link" data-click-track="profile-work-strip-thumbnail" href="https://www.academia.edu/12632516/Relationship_Between_Angiotensin_Converting_Enzyme_Gene_Polymorphism_and_Body_Composition_Functional_Performance_and_Blood_Biomarkers_in_Advanced_Cancer_Patients"><img alt="Research paper thumbnail of Relationship Between Angiotensin-Converting Enzyme Gene Polymorphism and Body Composition, Functional Performance, and Blood Biomarkers in Advanced Cancer Patients" class="work-thumbnail" src="https://attachments.academia-assets.com/37752907/thumbnails/1.jpg" /></a></div><div class="wp-workCard wp-workCard_itemContainer"><div class="wp-workCard_item wp-workCard--title"><a class="js-work-strip-work-link text-gray-darker" data-click-track="profile-work-strip-title" href="https://www.academia.edu/12632516/Relationship_Between_Angiotensin_Converting_Enzyme_Gene_Polymorphism_and_Body_Composition_Functional_Performance_and_Blood_Biomarkers_in_Advanced_Cancer_Patients">Relationship Between Angiotensin-Converting Enzyme Gene Polymorphism and Body Composition, Functional Performance, and Blood Biomarkers in Advanced Cancer Patients</a></div><div class="wp-workCard_item"><span class="js-work-more-abstract-truncated">Purpose: Nutritional and functional outcome measures have been shown to vary in patients with chr...</span><a class="js-work-more-abstract" data-broccoli-component="work_strip.more_abstract" data-click-track="profile-work-strip-more-abstract" href="javascript:;"><span> more </span><span><i class="fa fa-caret-down"></i></span></a><span class="js-work-more-abstract-untruncated hidden">Purpose: Nutritional and functional outcome measures have been shown to vary in patients with chronic diseases according to the polymorphic alleles of angiotensin-converting enzyme (ACE), but little is known about the associations between ACE gene polymorphism (ACEGP) and the components of body composition, strength, and selected blood markers in advanced cancer patients (ACP). Experimental Design: Data were collected from an</span></div><div class="wp-workCard_item wp-workCard--actions"><span class="work-strip-bookmark-button-container"></span><a id="3e56d16e4b62eb47fa36d36f13e446b5" class="wp-workCard--action" rel="nofollow" data-click-track="profile-work-strip-download" data-download="{"attachment_id":37752907,"asset_id":12632516,"asset_type":"Work","button_location":"profile"}" href="https://www.academia.edu/attachments/37752907/download_file?st=MTczMjk5MzEwNyw4LjIyMi4yMDguMTQ2&s=profile"><span><i class="fa fa-arrow-down"></i></span><span>Download</span></a><span class="wp-workCard--action visible-if-viewed-by-owner inline-block" style="display: none;"><span class="js-profile-work-strip-edit-button-wrapper profile-work-strip-edit-button-wrapper" data-work-id="12632516"><a class="js-profile-work-strip-edit-button" tabindex="0"><span><i class="fa fa-pencil"></i></span><span>Edit</span></a></span></span><span id="work-strip-rankings-button-container"></span></div><div class="wp-workCard_item wp-workCard--stats"><span><span><span class="js-view-count view-count u-mr2x" data-work-id="12632516"><i class="fa fa-spinner fa-spin"></i></span><script>$(function () { var workId = 12632516; window.Academia.workViewCountsFetcher.queue(workId, function (count) { var description = window.$h.commaizeInt(count) + " " + window.$h.pluralize(count, 'View'); $(".js-view-count[data-work-id=12632516]").text(description); $(".js-view-count[data-work-id=12632516]").attr('title', description).tooltip(); }); });</script></span></span><span><span class="percentile-widget hidden"><span class="u-mr2x work-percentile"></span></span><script>$(function () { var workId = 12632516; window.Academia.workPercentilesFetcher.queue(workId, function (percentileText) { var container = $(".js-work-strip[data-work-id='12632516']"); container.find('.work-percentile').text(percentileText.charAt(0).toUpperCase() + percentileText.slice(1)); container.find('.percentile-widget').show(); container.find('.percentile-widget').removeClass('hidden'); }); });</script></span><span><script>$(function() { new Works.PaperRankView({ workId: 12632516, container: "", }); });</script></span></div><div id="work-strip-premium-row-container"></div></div></div><script> require.config({ waitSeconds: 90 })(["https://a.academia-assets.com/assets/wow_profile-f77ea15d77ce96025a6048a514272ad8becbad23c641fc2b3bd6e24ca6ff1932.js","https://a.academia-assets.com/assets/work_edit-ad038b8c047c1a8d4fa01b402d530ff93c45fee2137a149a4a5398bc8ad67560.js"], function() { // from javascript_helper.rb var dispatcherData = {} if (true){ window.WowProfile.dispatcher = window.WowProfile.dispatcher || _.clone(Backbone.Events); dispatcherData = { dispatcher: window.WowProfile.dispatcher, downloadLinkId: "3e56d16e4b62eb47fa36d36f13e446b5" } } $('.js-work-strip[data-work-id=12632516]').each(function() { if (!$(this).data('initialized')) { new WowProfile.WorkStripView({ el: this, workJSON: {"id":12632516,"title":"Relationship Between Angiotensin-Converting Enzyme Gene Polymorphism and Body Composition, Functional Performance, and Blood Biomarkers in Advanced Cancer Patients","translated_title":"","metadata":{"abstract":"Purpose: Nutritional and functional outcome measures have been shown to vary in patients with chronic diseases according to the polymorphic alleles of angiotensin-converting enzyme (ACE), but little is known about the associations between ACE gene polymorphism (ACEGP) and the components of body composition, strength, and selected blood markers in advanced cancer patients (ACP). Experimental Design: Data were collected from an","publication_date":{"day":null,"month":null,"year":2000,"errors":{}}},"translated_abstract":"Purpose: Nutritional and functional outcome measures have been shown to vary in patients with chronic diseases according to the polymorphic alleles of angiotensin-converting enzyme (ACE), but little is known about the associations between ACE gene polymorphism (ACEGP) and the components of body composition, strength, and selected blood markers in advanced cancer patients (ACP). Experimental Design: Data were collected from an","internal_url":"https://www.academia.edu/12632516/Relationship_Between_Angiotensin_Converting_Enzyme_Gene_Polymorphism_and_Body_Composition_Functional_Performance_and_Blood_Biomarkers_in_Advanced_Cancer_Patients","translated_internal_url":"","created_at":"2015-05-27T09:37:35.985-07:00","preview_url":null,"current_user_can_edit":null,"current_user_is_owner":null,"owner_id":31600762,"coauthors_can_edit":true,"document_type":"paper","co_author_tags":[],"downloadable_attachments":[{"id":37752907,"title":"","file_type":"pdf","scribd_thumbnail_url":"https://attachments.academia-assets.com/37752907/thumbnails/1.jpg","file_name":"ClinicalCancerResearch.pdf","download_url":"https://www.academia.edu/attachments/37752907/download_file?st=MTczMjk5MzEwNyw4LjIyMi4yMDguMTQ2&","bulk_download_file_name":"Relationship_Between_Angiotensin_Convert.pdf","bulk_download_url":"https://d1wqtxts1xzle7.cloudfront.net/37752907/ClinicalCancerResearch-libre.pdf?1432744951=\u0026response-content-disposition=attachment%3B+filename%3DRelationship_Between_Angiotensin_Convert.pdf\u0026Expires=1732996707\u0026Signature=Fl5nS3N8kfZYAJOPLLYoM55L7rdQl4k6lAHFUAV9OOCzw0EkzEX1GoovFfr0mjAnSLewM3g7UXRdrLM8nNTTCY1~yMCLjhNnOZe0z0u-nF8DvDyMVlf9Db8btqYQ7CNNOwpKoacGD5iWUuJVZH9wkE81RbxRt6dj8M3-HYl1ZwncSk26EBrZmWT8b-RjB1HvZdbXctjhhVw3xrdIsGUryEUeARIwvXcT4ZvdtBkhSUEqzL1QiznSo~DSnRuwV6XbSCG~lworMaMApepnpzdCDQ-~7BZRULrxki7H4hBKw3JTA2MHtAV79uYTP~fS4kocoRYVBGHYAWb96E~n0C7oUA__\u0026Key-Pair-Id=APKAJLOHF5GGSLRBV4ZA"}],"slug":"Relationship_Between_Angiotensin_Converting_Enzyme_Gene_Polymorphism_and_Body_Composition_Functional_Performance_and_Blood_Biomarkers_in_Advanced_Cancer_Patients","translated_slug":"","page_count":6,"language":"en","content_type":"Work","owner":{"id":31600762,"first_name":"Nancy","middle_initials":null,"last_name":"Hamel","page_name":"NancyHamel","domain_name":"independent","created_at":"2015-05-27T09:36:34.282-07:00","display_name":"Nancy Hamel","url":"https://independent.academia.edu/NancyHamel"},"attachments":[{"id":37752907,"title":"","file_type":"pdf","scribd_thumbnail_url":"https://attachments.academia-assets.com/37752907/thumbnails/1.jpg","file_name":"ClinicalCancerResearch.pdf","download_url":"https://www.academia.edu/attachments/37752907/download_file?st=MTczMjk5MzEwNyw4LjIyMi4yMDguMTQ2&","bulk_download_file_name":"Relationship_Between_Angiotensin_Convert.pdf","bulk_download_url":"https://d1wqtxts1xzle7.cloudfront.net/37752907/ClinicalCancerResearch-libre.pdf?1432744951=\u0026response-content-disposition=attachment%3B+filename%3DRelationship_Between_Angiotensin_Convert.pdf\u0026Expires=1732996707\u0026Signature=Fl5nS3N8kfZYAJOPLLYoM55L7rdQl4k6lAHFUAV9OOCzw0EkzEX1GoovFfr0mjAnSLewM3g7UXRdrLM8nNTTCY1~yMCLjhNnOZe0z0u-nF8DvDyMVlf9Db8btqYQ7CNNOwpKoacGD5iWUuJVZH9wkE81RbxRt6dj8M3-HYl1ZwncSk26EBrZmWT8b-RjB1HvZdbXctjhhVw3xrdIsGUryEUeARIwvXcT4ZvdtBkhSUEqzL1QiznSo~DSnRuwV6XbSCG~lworMaMApepnpzdCDQ-~7BZRULrxki7H4hBKw3JTA2MHtAV79uYTP~fS4kocoRYVBGHYAWb96E~n0C7oUA__\u0026Key-Pair-Id=APKAJLOHF5GGSLRBV4ZA"}],"research_interests":[{"id":100336,"name":"Body Composition","url":"https://www.academia.edu/Documents/in/Body_Composition"},{"id":306990,"name":"Gene Polymorphism","url":"https://www.academia.edu/Documents/in/Gene_Polymorphism"},{"id":532278,"name":"Cancer Patient","url":"https://www.academia.edu/Documents/in/Cancer_Patient"},{"id":719604,"name":"Angiotensin Converting Enzyme","url":"https://www.academia.edu/Documents/in/Angiotensin_Converting_Enzyme"}],"urls":[{"id":4818033,"url":"http://artsandscience1.concordia.ca/exsci/documents/ClinicalCancerResearch.pdf"}]}, dispatcherData: dispatcherData }); $(this).data('initialized', true); } }); $a.trackClickSource(".js-work-strip-work-link", "profile_work_strip") }); </script> <div class="js-work-strip profile--work_container" data-work-id="12632515"><div class="profile--work_thumbnail hidden-xs"><a class="js-work-strip-work-link" data-click-track="profile-work-strip-thumbnail" href="https://www.academia.edu/12632515/Mutation_analysis_of_PALB2_in_BRCA1_and_BRCA2_negative_breast_and_or_ovarian_cancer_families_from_Eastern_Ontario_Canada"><img alt="Research paper thumbnail of Mutation analysis of PALB2 in BRCA1 and BRCA2-negative breast and/or ovarian cancer families from Eastern Ontario, Canada" class="work-thumbnail" src="https://attachments.academia-assets.com/46037477/thumbnails/1.jpg" /></a></div><div class="wp-workCard wp-workCard_itemContainer"><div class="wp-workCard_item wp-workCard--title"><a class="js-work-strip-work-link text-gray-darker" data-click-track="profile-work-strip-title" href="https://www.academia.edu/12632515/Mutation_analysis_of_PALB2_in_BRCA1_and_BRCA2_negative_breast_and_or_ovarian_cancer_families_from_Eastern_Ontario_Canada">Mutation analysis of PALB2 in BRCA1 and BRCA2-negative breast and/or ovarian cancer families from Eastern Ontario, Canada</a></div><div class="wp-workCard_item"><span>Hereditary Cancer in Clinical Practice</span><span>, 2014</span></div><div class="wp-workCard_item wp-workCard--actions"><span class="work-strip-bookmark-button-container"></span><a id="90a561bb0432e5de0a05c175987622f2" class="wp-workCard--action" rel="nofollow" data-click-track="profile-work-strip-download" data-download="{"attachment_id":46037477,"asset_id":12632515,"asset_type":"Work","button_location":"profile"}" href="https://www.academia.edu/attachments/46037477/download_file?st=MTczMjk5MzEwOCw4LjIyMi4yMDguMTQ2&s=profile"><span><i class="fa fa-arrow-down"></i></span><span>Download</span></a><span class="wp-workCard--action visible-if-viewed-by-owner inline-block" style="display: none;"><span class="js-profile-work-strip-edit-button-wrapper profile-work-strip-edit-button-wrapper" data-work-id="12632515"><a class="js-profile-work-strip-edit-button" tabindex="0"><span><i class="fa fa-pencil"></i></span><span>Edit</span></a></span></span><span id="work-strip-rankings-button-container"></span></div><div class="wp-workCard_item wp-workCard--stats"><span><span><span class="js-view-count view-count u-mr2x" data-work-id="12632515"><i class="fa fa-spinner fa-spin"></i></span><script>$(function () { var workId = 12632515; window.Academia.workViewCountsFetcher.queue(workId, function (count) { var description = window.$h.commaizeInt(count) + " " + window.$h.pluralize(count, 'View'); $(".js-view-count[data-work-id=12632515]").text(description); $(".js-view-count[data-work-id=12632515]").attr('title', description).tooltip(); }); });</script></span></span><span><span class="percentile-widget hidden"><span class="u-mr2x work-percentile"></span></span><script>$(function () { var workId = 12632515; window.Academia.workPercentilesFetcher.queue(workId, function (percentileText) { var container = $(".js-work-strip[data-work-id='12632515']"); container.find('.work-percentile').text(percentileText.charAt(0).toUpperCase() + percentileText.slice(1)); container.find('.percentile-widget').show(); container.find('.percentile-widget').removeClass('hidden'); }); });</script></span><span><script>$(function() { new Works.PaperRankView({ workId: 12632515, container: "", }); });</script></span></div><div id="work-strip-premium-row-container"></div></div></div><script> require.config({ waitSeconds: 90 })(["https://a.academia-assets.com/assets/wow_profile-f77ea15d77ce96025a6048a514272ad8becbad23c641fc2b3bd6e24ca6ff1932.js","https://a.academia-assets.com/assets/work_edit-ad038b8c047c1a8d4fa01b402d530ff93c45fee2137a149a4a5398bc8ad67560.js"], function() { // from javascript_helper.rb var dispatcherData = {} if (true){ window.WowProfile.dispatcher = window.WowProfile.dispatcher || _.clone(Backbone.Events); 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Mutations in PALB2 have been identified in almost all breast cancer populations studied to date, but the rarity of these mutations and lack of information regarding their penetrance makes genetic counseling for these families challenging. We studied BRCA1/2 -negative breast and/or ovarian cancer families to a) assess the contribution of PALB2 mutations in this series and b) identify clinical, pathological and family history characteristics that might make PALB2 screening more efficient. Methods: The coding region of the PALB2 gene was analyzed in 175 probands with family histories of breast and/or ovarian cancer ascertained from a single Canadian institution in Eastern Ontario.","publication_date":{"day":null,"month":null,"year":2014,"errors":{}},"publication_name":"Hereditary Cancer in Clinical Practice","grobid_abstract_attachment_id":46037477},"translated_abstract":null,"internal_url":"https://www.academia.edu/12632515/Mutation_analysis_of_PALB2_in_BRCA1_and_BRCA2_negative_breast_and_or_ovarian_cancer_families_from_Eastern_Ontario_Canada","translated_internal_url":"","created_at":"2015-05-27T09:37:35.865-07:00","preview_url":null,"current_user_can_edit":null,"current_user_is_owner":null,"owner_id":31600762,"coauthors_can_edit":true,"document_type":"paper","co_author_tags":[],"downloadable_attachments":[{"id":46037477,"title":"","file_type":"pdf","scribd_thumbnail_url":"https://attachments.academia-assets.com/46037477/thumbnails/1.jpg","file_name":"Mutation_analysis_of_PALB2_in_BRCA1_and_20160529-19853-193wakb.pdf","download_url":"https://www.academia.edu/attachments/46037477/download_file?st=MTczMjk5MzEwOCw4LjIyMi4yMDguMTQ2&","bulk_download_file_name":"Mutation_analysis_of_PALB2_in_BRCA1_and.pdf","bulk_download_url":"https://d1wqtxts1xzle7.cloudfront.net/46037477/Mutation_analysis_of_PALB2_in_BRCA1_and_20160529-19853-193wakb-libre.pdf?1464514406=\u0026response-content-disposition=attachment%3B+filename%3DMutation_analysis_of_PALB2_in_BRCA1_and.pdf\u0026Expires=1732996707\u0026Signature=EYPO3j~EQOCQqM9kV3QKVr36ZFav8-cTIrz1B9mAkiscX24GEp0yRsSKiNS-AyTlcINJaR0ty6toV7tknFjkfar9Y6wH-WP8eXxHjeOurw~J197w6WmYWQubBOQKOJsQHs7wmD8LBUitLQtYPdvBJAtLhWJ2XB8yYxrvrxIFX0txBM23z7nvrQOiXesWsQUWLzw~-BaWZ32Ne-36jyffkRVm1XSChMQl3yE7ckN65Cpo8xew~tRAHmVwUnJ~hla1EqcoCpwVXRBtohsYX8jQ1A-qnPdIcjnVJKVs58~gwQwTrsutOkTa0KmNWmeFnRRNmW-Mv5FMQg8cUjZYC-riuw__\u0026Key-Pair-Id=APKAJLOHF5GGSLRBV4ZA"}],"slug":"Mutation_analysis_of_PALB2_in_BRCA1_and_BRCA2_negative_breast_and_or_ovarian_cancer_families_from_Eastern_Ontario_Canada","translated_slug":"","page_count":9,"language":"en","content_type":"Work","owner":{"id":31600762,"first_name":"Nancy","middle_initials":null,"last_name":"Hamel","page_name":"NancyHamel","domain_name":"independent","created_at":"2015-05-27T09:36:34.282-07:00","display_name":"Nancy Hamel","url":"https://independent.academia.edu/NancyHamel"},"attachments":[{"id":46037477,"title":"","file_type":"pdf","scribd_thumbnail_url":"https://attachments.academia-assets.com/46037477/thumbnails/1.jpg","file_name":"Mutation_analysis_of_PALB2_in_BRCA1_and_20160529-19853-193wakb.pdf","download_url":"https://www.academia.edu/attachments/46037477/download_file?st=MTczMjk5MzEwOCw4LjIyMi4yMDguMTQ2&","bulk_download_file_name":"Mutation_analysis_of_PALB2_in_BRCA1_and.pdf","bulk_download_url":"https://d1wqtxts1xzle7.cloudfront.net/46037477/Mutation_analysis_of_PALB2_in_BRCA1_and_20160529-19853-193wakb-libre.pdf?1464514406=\u0026response-content-disposition=attachment%3B+filename%3DMutation_analysis_of_PALB2_in_BRCA1_and.pdf\u0026Expires=1732996708\u0026Signature=P32T0X~SaxUjJmW9CjuuzN-jdxVbj6wbqzhHfr6J08Tfa~YuUc~AvwtC2lTkiEijggxOwfQYKFytjQ7XDE0bS2pHC8I4iAFysO9ABrfJJ~97m2jH0HaBZjXUFYtOaLWqvkB2cvt93zi9zNv2DdvYZjcXjM9PwI38eLDZ1hoQXR97QAMrGoi4TgSBuGOgONalGepfrqpkHSlSrSOtIhrLwX4zap1XfIAEhZ8aJOmi3y~Vnd5JRW0bx5IR8lX7j4CiUaMxlUDIm4~k9zlRtRDZdEHbbXjKNK9SuyYrlBQv41uabXnLKD-RU2JrixYCoLnyMwHfbv5GeZAMpmjXhFXU4A__\u0026Key-Pair-Id=APKAJLOHF5GGSLRBV4ZA"}],"research_interests":[],"urls":[]}, dispatcherData: dispatcherData }); $(this).data('initialized', true); } }); $a.trackClickSource(".js-work-strip-work-link", "profile_work_strip") }); </script> <div class="js-work-strip profile--work_container" data-work-id="12632514"><div class="profile--work_thumbnail hidden-xs"><a class="js-work-strip-work-link" data-click-track="profile-work-strip-thumbnail" href="https://www.academia.edu/12632514/Biallelic_deleterious_BRCA1_mutations_in_a_woman_with_early_onset_ovarian_cancer"><img alt="Research paper thumbnail of Biallelic deleterious BRCA1 mutations in a woman with early-onset ovarian cancer" class="work-thumbnail" src="https://a.academia-assets.com/images/blank-paper.jpg" /></a></div><div class="wp-workCard wp-workCard_itemContainer"><div class="wp-workCard_item wp-workCard--title"><a class="js-work-strip-work-link text-gray-darker" data-click-track="profile-work-strip-title" href="https://www.academia.edu/12632514/Biallelic_deleterious_BRCA1_mutations_in_a_woman_with_early_onset_ovarian_cancer">Biallelic deleterious BRCA1 mutations in a woman with early-onset ovarian cancer</a></div><div class="wp-workCard_item"><span>Cancer Discovery</span><span>, 2013</span></div><div class="wp-workCard_item"><span class="js-work-more-abstract-truncated">BRCA1 and BRCA2 are the most important breast and ovarian cancer susceptibility genes. Biallelic ...</span><a class="js-work-more-abstract" data-broccoli-component="work_strip.more_abstract" data-click-track="profile-work-strip-more-abstract" href="javascript:;"><span> more </span><span><i class="fa fa-caret-down"></i></span></a><span class="js-work-more-abstract-untruncated hidden">BRCA1 and BRCA2 are the most important breast and ovarian cancer susceptibility genes. Biallelic mutations in BRCA2 can lead to Fanconi anemia and predisposition to cancers, whereas biallelic BRCA1 mutations have not been confirmed, presumably because one wild-type BRCA1 allele is required during embryogenesis. This study describes an individual who was diagnosed with ovarian carcinoma at age 28 and found to have one allele with a deleterious mutation in BRCA1, c.2457delC (p.Asp821Ilefs*25), and a second allele with a variant of unknown significance in BRCA1, c.5207T&amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;gt;C (p.Val1736Ala). Medical records revealed short stature, microcephaly, developmental delay, and significant toxicity from chemotherapy. BRCA1 p.Val1736Ala cosegregated with cancer in multiple families, associated tumors showed loss of wild-type BRCA1, and BRCA1 p.Val1736Ala showed reduced DNA damage localization. These findings represent the first validated example of biallelic deleterious human BRCA1 mutations and have implications for the interpretation of genetic test results. Accurate assessment of genetic testing data for BRCA1 mutations is essential for clinical monitoring and treatment strategies. Here, we report the fi rst validated example of an individual with biallelic BRCA1 mutations, early-onset ovarian cancer, and clinically significant hypersensitivity to chemotherapy.</span></div><div class="wp-workCard_item wp-workCard--actions"><span class="work-strip-bookmark-button-container"></span><span class="wp-workCard--action visible-if-viewed-by-owner inline-block" style="display: none;"><span class="js-profile-work-strip-edit-button-wrapper profile-work-strip-edit-button-wrapper" data-work-id="12632514"><a class="js-profile-work-strip-edit-button" tabindex="0"><span><i class="fa fa-pencil"></i></span><span>Edit</span></a></span></span><span id="work-strip-rankings-button-container"></span></div><div class="wp-workCard_item wp-workCard--stats"><span><span><span class="js-view-count view-count u-mr2x" data-work-id="12632514"><i class="fa fa-spinner fa-spin"></i></span><script>$(function () { var workId = 12632514; window.Academia.workViewCountsFetcher.queue(workId, function (count) { var description = window.$h.commaizeInt(count) + " " + window.$h.pluralize(count, 'View'); $(".js-view-count[data-work-id=12632514]").text(description); $(".js-view-count[data-work-id=12632514]").attr('title', description).tooltip(); }); });</script></span></span><span><span class="percentile-widget hidden"><span class="u-mr2x work-percentile"></span></span><script>$(function () { var workId = 12632514; window.Academia.workPercentilesFetcher.queue(workId, function (percentileText) { var container = $(".js-work-strip[data-work-id='12632514']"); container.find('.work-percentile').text(percentileText.charAt(0).toUpperCase() + percentileText.slice(1)); container.find('.percentile-widget').show(); container.find('.percentile-widget').removeClass('hidden'); }); });</script></span><span><script>$(function() { new Works.PaperRankView({ workId: 12632514, container: "", }); });</script></span></div><div id="work-strip-premium-row-container"></div></div></div><script> require.config({ waitSeconds: 90 })(["https://a.academia-assets.com/assets/wow_profile-f77ea15d77ce96025a6048a514272ad8becbad23c641fc2b3bd6e24ca6ff1932.js","https://a.academia-assets.com/assets/work_edit-ad038b8c047c1a8d4fa01b402d530ff93c45fee2137a149a4a5398bc8ad67560.js"], function() { // from javascript_helper.rb var dispatcherData = {} if (false){ window.WowProfile.dispatcher = window.WowProfile.dispatcher || _.clone(Backbone.Events); dispatcherData = { dispatcher: window.WowProfile.dispatcher, downloadLinkId: "-1" } } $('.js-work-strip[data-work-id=12632514]').each(function() { if (!$(this).data('initialized')) { new WowProfile.WorkStripView({ el: this, workJSON: {"id":12632514,"title":"Biallelic deleterious BRCA1 mutations in a woman with early-onset ovarian cancer","translated_title":"","metadata":{"abstract":"BRCA1 and BRCA2 are the most important breast and ovarian cancer susceptibility genes. Biallelic mutations in BRCA2 can lead to Fanconi anemia and predisposition to cancers, whereas biallelic BRCA1 mutations have not been confirmed, presumably because one wild-type BRCA1 allele is required during embryogenesis. This study describes an individual who was diagnosed with ovarian carcinoma at age 28 and found to have one allele with a deleterious mutation in BRCA1, c.2457delC (p.Asp821Ilefs*25), and a second allele with a variant of unknown significance in BRCA1, c.5207T\u0026amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;gt;C (p.Val1736Ala). Medical records revealed short stature, microcephaly, developmental delay, and significant toxicity from chemotherapy. BRCA1 p.Val1736Ala cosegregated with cancer in multiple families, associated tumors showed loss of wild-type BRCA1, and BRCA1 p.Val1736Ala showed reduced DNA damage localization. These findings represent the first validated example of biallelic deleterious human BRCA1 mutations and have implications for the interpretation of genetic test results. Accurate assessment of genetic testing data for BRCA1 mutations is essential for clinical monitoring and treatment strategies. Here, we report the fi rst validated example of an individual with biallelic BRCA1 mutations, early-onset ovarian cancer, and clinically significant hypersensitivity to chemotherapy.","publication_date":{"day":null,"month":null,"year":2013,"errors":{}},"publication_name":"Cancer Discovery"},"translated_abstract":"BRCA1 and BRCA2 are the most important breast and ovarian cancer susceptibility genes. Biallelic mutations in BRCA2 can lead to Fanconi anemia and predisposition to cancers, whereas biallelic BRCA1 mutations have not been confirmed, presumably because one wild-type BRCA1 allele is required during embryogenesis. This study describes an individual who was diagnosed with ovarian carcinoma at age 28 and found to have one allele with a deleterious mutation in BRCA1, c.2457delC (p.Asp821Ilefs*25), and a second allele with a variant of unknown significance in BRCA1, c.5207T\u0026amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;gt;C (p.Val1736Ala). Medical records revealed short stature, microcephaly, developmental delay, and significant toxicity from chemotherapy. BRCA1 p.Val1736Ala cosegregated with cancer in multiple families, associated tumors showed loss of wild-type BRCA1, and BRCA1 p.Val1736Ala showed reduced DNA damage localization. These findings represent the first validated example of biallelic deleterious human BRCA1 mutations and have implications for the interpretation of genetic test results. Accurate assessment of genetic testing data for BRCA1 mutations is essential for clinical monitoring and treatment strategies. Here, we report the fi rst validated example of an individual with biallelic BRCA1 mutations, early-onset ovarian cancer, and clinically significant hypersensitivity to chemotherapy.","internal_url":"https://www.academia.edu/12632514/Biallelic_deleterious_BRCA1_mutations_in_a_woman_with_early_onset_ovarian_cancer","translated_internal_url":"","created_at":"2015-05-27T09:37:35.761-07:00","preview_url":null,"current_user_can_edit":null,"current_user_is_owner":null,"owner_id":31600762,"coauthors_can_edit":true,"document_type":"paper","co_author_tags":[],"downloadable_attachments":[],"slug":"Biallelic_deleterious_BRCA1_mutations_in_a_woman_with_early_onset_ovarian_cancer","translated_slug":"","page_count":null,"language":"en","content_type":"Work","owner":{"id":31600762,"first_name":"Nancy","middle_initials":null,"last_name":"Hamel","page_name":"NancyHamel","domain_name":"independent","created_at":"2015-05-27T09:36:34.282-07:00","display_name":"Nancy Hamel","url":"https://independent.academia.edu/NancyHamel"},"attachments":[],"research_interests":[{"id":74780,"name":"Mutation","url":"https://www.academia.edu/Documents/in/Mutation"},{"id":81151,"name":"Cancer drug discovery","url":"https://www.academia.edu/Documents/in/Cancer_drug_discovery"}],"urls":[]}, dispatcherData: dispatcherData }); $(this).data('initialized', true); } }); $a.trackClickSource(".js-work-strip-work-link", "profile_work_strip") }); </script> <div class="js-work-strip profile--work_container" data-work-id="12632513"><div class="profile--work_thumbnail hidden-xs"><a class="js-work-strip-work-link" data-click-track="profile-work-strip-thumbnail" href="https://www.academia.edu/12632513/Genetic_architecture_of_prostate_cancer_in_the_Ashkenazi_Jewish_population"><img alt="Research paper thumbnail of Genetic architecture of prostate cancer in the Ashkenazi Jewish population" class="work-thumbnail" src="https://attachments.academia-assets.com/46037443/thumbnails/1.jpg" /></a></div><div class="wp-workCard wp-workCard_itemContainer"><div class="wp-workCard_item wp-workCard--title"><a class="js-work-strip-work-link text-gray-darker" data-click-track="profile-work-strip-title" href="https://www.academia.edu/12632513/Genetic_architecture_of_prostate_cancer_in_the_Ashkenazi_Jewish_population">Genetic architecture of prostate cancer in the Ashkenazi Jewish population</a></div><div class="wp-workCard_item"><span>British Journal of Cancer</span><span>, 2011</span></div><div class="wp-workCard_item wp-workCard--actions"><span class="work-strip-bookmark-button-container"></span><a id="e25b09da5ce6e03a0e52a84695a5607c" class="wp-workCard--action" rel="nofollow" data-click-track="profile-work-strip-download" data-download="{"attachment_id":46037443,"asset_id":12632513,"asset_type":"Work","button_location":"profile"}" href="https://www.academia.edu/attachments/46037443/download_file?st=MTczMjk5MzEwOCw4LjIyMi4yMDguMTQ2&s=profile"><span><i class="fa fa-arrow-down"></i></span><span>Download</span></a><span class="wp-workCard--action visible-if-viewed-by-owner inline-block" style="display: none;"><span class="js-profile-work-strip-edit-button-wrapper profile-work-strip-edit-button-wrapper" data-work-id="12632513"><a class="js-profile-work-strip-edit-button" tabindex="0"><span><i class="fa fa-pencil"></i></span><span>Edit</span></a></span></span><span id="work-strip-rankings-button-container"></span></div><div class="wp-workCard_item wp-workCard--stats"><span><span><span class="js-view-count view-count u-mr2x" data-work-id="12632513"><i class="fa fa-spinner fa-spin"></i></span><script>$(function () { var workId = 12632513; window.Academia.workViewCountsFetcher.queue(workId, function (count) { var description = window.$h.commaizeInt(count) + " " + window.$h.pluralize(count, 'View'); $(".js-view-count[data-work-id=12632513]").text(description); $(".js-view-count[data-work-id=12632513]").attr('title', description).tooltip(); }); });</script></span></span><span><span class="percentile-widget hidden"><span class="u-mr2x work-percentile"></span></span><script>$(function () { var workId = 12632513; window.Academia.workPercentilesFetcher.queue(workId, function (percentileText) { var container = $(".js-work-strip[data-work-id='12632513']"); container.find('.work-percentile').text(percentileText.charAt(0).toUpperCase() + percentileText.slice(1)); container.find('.percentile-widget').show(); container.find('.percentile-widget').removeClass('hidden'); }); });</script></span><span><script>$(function() { new Works.PaperRankView({ workId: 12632513, container: "", }); });</script></span></div><div id="work-strip-premium-row-container"></div></div></div><script> require.config({ waitSeconds: 90 })(["https://a.academia-assets.com/assets/wow_profile-f77ea15d77ce96025a6048a514272ad8becbad23c641fc2b3bd6e24ca6ff1932.js","https://a.academia-assets.com/assets/work_edit-ad038b8c047c1a8d4fa01b402d530ff93c45fee2137a149a4a5398bc8ad67560.js"], function() { // from javascript_helper.rb var dispatcherData = {} if (true){ window.WowProfile.dispatcher = window.WowProfile.dispatcher || _.clone(Backbone.Events); dispatcherData = { dispatcher: window.WowProfile.dispatcher, downloadLinkId: "e25b09da5ce6e03a0e52a84695a5607c" } } $('.js-work-strip[data-work-id=12632513]').each(function() { if (!$(this).data('initialized')) { new WowProfile.WorkStripView({ el: this, workJSON: {"id":12632513,"title":"Genetic architecture of prostate cancer in the Ashkenazi Jewish population","translated_title":"","metadata":{"grobid_abstract":"BACKGROUND: Recently, numerous prostate cancer risk loci have been identified, some of which show association in specific populations. No study has yet investigated whether these single nucleotide polymorphisms (SNPs) are associated with prostate cancer in the Ashkenazi Jewish (AJ) population. METHODS: A total of 29 known prostate cancer risk SNPs were genotyped in 963 prostate cancer cases and 613 controls of AJ ancestry. These data were combined with data from 1241 additional Ashkenazi controls and tested for association with prostate cancer. Correction for multiple testing was performed using the false discovery rate procedure. RESULTS: Ten of twenty-three SNPs that passed quality control procedures were associated with prostate cancer risk at a false discovery rate of 5%. Of these, nine were originally discovered in studies of individuals of European ancestry. Based on power calculations, the number of significant associations observed is not surprising. CONCLUSION: We see no convincing evidence that the genetic architecture of prostate cancer in the AJ population is substantively different from that observed in other populations of European ancestry.","publication_date":{"day":null,"month":null,"year":2011,"errors":{}},"publication_name":"British Journal of Cancer","grobid_abstract_attachment_id":46037443},"translated_abstract":null,"internal_url":"https://www.academia.edu/12632513/Genetic_architecture_of_prostate_cancer_in_the_Ashkenazi_Jewish_population","translated_internal_url":"","created_at":"2015-05-27T09:37:35.652-07:00","preview_url":null,"current_user_can_edit":null,"current_user_is_owner":null,"owner_id":31600762,"coauthors_can_edit":true,"document_type":"paper","co_author_tags":[],"downloadable_attachments":[{"id":46037443,"title":"","file_type":"pdf","scribd_thumbnail_url":"https://attachments.academia-assets.com/46037443/thumbnails/1.jpg","file_name":"Genetic_architecture_of_prostate_cancer_20160529-32739-1w0co26.pdf","download_url":"https://www.academia.edu/attachments/46037443/download_file?st=MTczMjk5MzEwOCw4LjIyMi4yMDguMTQ2&","bulk_download_file_name":"Genetic_architecture_of_prostate_cancer.pdf","bulk_download_url":"https://d1wqtxts1xzle7.cloudfront.net/46037443/Genetic_architecture_of_prostate_cancer_20160529-32739-1w0co26-libre.pdf?1464514406=\u0026response-content-disposition=attachment%3B+filename%3DGenetic_architecture_of_prostate_cancer.pdf\u0026Expires=1732996708\u0026Signature=NGp~xpxizP0nT6ujbuHSXklRbYSV86RCmXPW4KNjZ-usIa4JHaSXRfZz5Erwqke7Z3BtJknh5gjXtOB5n~yxbNIdhA-Fs5Cz0W5wx~q7BXODQeSapAAxSPlX2gpit49OJQ4ZlzcCem7QfP4pzgPSiqSUuSMG8yLw-Pk6p2tLB9rPR3tXDgqMkatrz-67EPu0netSaXR3uD2GipgUku~Q-1gj1a5EsRCPfQ9f4Hf-0fNRKJaGHsHG-hB-VkzX6LAblZSAtZdncI7yfX3dSIgYs8Jhr5v~yQ5wIp3AesOHkuf9WInKcLwe6mtJIhHu5c9PjMhr0aPfs0Ni8JkavgEXZQ__\u0026Key-Pair-Id=APKAJLOHF5GGSLRBV4ZA"}],"slug":"Genetic_architecture_of_prostate_cancer_in_the_Ashkenazi_Jewish_population","translated_slug":"","page_count":6,"language":"en","content_type":"Work","owner":{"id":31600762,"first_name":"Nancy","middle_initials":null,"last_name":"Hamel","page_name":"NancyHamel","domain_name":"independent","created_at":"2015-05-27T09:36:34.282-07:00","display_name":"Nancy Hamel","url":"https://independent.academia.edu/NancyHamel"},"attachments":[{"id":46037443,"title":"","file_type":"pdf","scribd_thumbnail_url":"https://attachments.academia-assets.com/46037443/thumbnails/1.jpg","file_name":"Genetic_architecture_of_prostate_cancer_20160529-32739-1w0co26.pdf","download_url":"https://www.academia.edu/attachments/46037443/download_file?st=MTczMjk5MzEwOCw4LjIyMi4yMDguMTQ2&","bulk_download_file_name":"Genetic_architecture_of_prostate_cancer.pdf","bulk_download_url":"https://d1wqtxts1xzle7.cloudfront.net/46037443/Genetic_architecture_of_prostate_cancer_20160529-32739-1w0co26-libre.pdf?1464514406=\u0026response-content-disposition=attachment%3B+filename%3DGenetic_architecture_of_prostate_cancer.pdf\u0026Expires=1732996708\u0026Signature=NGp~xpxizP0nT6ujbuHSXklRbYSV86RCmXPW4KNjZ-usIa4JHaSXRfZz5Erwqke7Z3BtJknh5gjXtOB5n~yxbNIdhA-Fs5Cz0W5wx~q7BXODQeSapAAxSPlX2gpit49OJQ4ZlzcCem7QfP4pzgPSiqSUuSMG8yLw-Pk6p2tLB9rPR3tXDgqMkatrz-67EPu0netSaXR3uD2GipgUku~Q-1gj1a5EsRCPfQ9f4Hf-0fNRKJaGHsHG-hB-VkzX6LAblZSAtZdncI7yfX3dSIgYs8Jhr5v~yQ5wIp3AesOHkuf9WInKcLwe6mtJIhHu5c9PjMhr0aPfs0Ni8JkavgEXZQ__\u0026Key-Pair-Id=APKAJLOHF5GGSLRBV4ZA"}],"research_interests":[{"id":12980,"name":"Prostate Cancer","url":"https://www.academia.edu/Documents/in/Prostate_Cancer"},{"id":24731,"name":"Apoptosis","url":"https://www.academia.edu/Documents/in/Apoptosis"},{"id":33319,"name":"Nature","url":"https://www.academia.edu/Documents/in/Nature"},{"id":38650,"name":"Cell Division","url":"https://www.academia.edu/Documents/in/Cell_Division"},{"id":52489,"name":"Adipose tissue","url":"https://www.academia.edu/Documents/in/Adipose_tissue"},{"id":121508,"name":"Jews","url":"https://www.academia.edu/Documents/in/Jews"},{"id":206605,"name":"Ashkenazi Jews","url":"https://www.academia.edu/Documents/in/Ashkenazi_Jews"},{"id":372410,"name":"Genotype","url":"https://www.academia.edu/Documents/in/Genotype"},{"id":553283,"name":"Cancer cells","url":"https://www.academia.edu/Documents/in/Cancer_cells"},{"id":561981,"name":"European Continental Ancestry Group","url":"https://www.academia.edu/Documents/in/European_Continental_Ancestry_Group"},{"id":1010893,"name":"Cancers","url":"https://www.academia.edu/Documents/in/Cancers"},{"id":1819399,"name":"Case Control Studies","url":"https://www.academia.edu/Documents/in/Case_Control_Studies"}],"urls":[]}, dispatcherData: dispatcherData }); $(this).data('initialized', true); } }); $a.trackClickSource(".js-work-strip-work-link", "profile_work_strip") }); </script> <div class="js-work-strip profile--work_container" data-work-id="12632512"><div class="profile--work_thumbnail hidden-xs"><a class="js-work-strip-work-link" data-click-track="profile-work-strip-thumbnail" href="https://www.academia.edu/12632512/Germ_line_and_somatic_DICER1_mutations_in_pineoblastoma"><img alt="Research paper thumbnail of Germ-line and somatic DICER1 mutations in pineoblastoma" class="work-thumbnail" src="https://a.academia-assets.com/images/blank-paper.jpg" /></a></div><div class="wp-workCard wp-workCard_itemContainer"><div class="wp-workCard_item wp-workCard--title"><a class="js-work-strip-work-link text-gray-darker" data-click-track="profile-work-strip-title" href="https://www.academia.edu/12632512/Germ_line_and_somatic_DICER1_mutations_in_pineoblastoma">Germ-line and somatic DICER1 mutations in pineoblastoma</a></div><div class="wp-workCard_item"><span>Acta Neuropathologica</span><span>, 2014</span></div><div class="wp-workCard_item"><span class="js-work-more-abstract-truncated">Germ-line RB-1 mutations predispose to pineoblastoma (PinB), but other predisposing genetic facto...</span><a class="js-work-more-abstract" data-broccoli-component="work_strip.more_abstract" data-click-track="profile-work-strip-more-abstract" href="javascript:;"><span> more </span><span><i class="fa fa-caret-down"></i></span></a><span class="js-work-more-abstract-untruncated hidden">Germ-line RB-1 mutations predispose to pineoblastoma (PinB), but other predisposing genetic factors are not well established. We recently identified a germ-line DICER1 mutation in a child with a PinB. This was accompanied by loss of heterozygosity (LOH) of the wild-type allele within the tumour. We set out to establish the prevalence of DICER1 mutations in an opportunistically ascertained series of PinBs. Twenty-one PinB cases were studied: Eighteen cases had not undergone previous testing for DICER1 mutations; three patients were known carriers of germ-line DICER1 mutations. The eighteen PinBs were sequenced by Sanger and/or Fluidigm-based next-generation sequencing to identify DICER1 mutations in blood gDNA and/or tumour gDNA. Testing for somatic DICER1 mutations was also conducted on one case with a known germ-line DICER1 mutation. From the eighteen PinBs, we identified four deleterious DICER1 mutations, three of which were germ line in origin, and one for which a germ line versus somatic origin could not be determined; in all four, the second allele was also inactivated leading to complete loss of DICER1 protein. No somatic DICER1 RNase IIIb mutations were identified. One PinB arising in a germ-line DICER1 mutation carrier was found to have LOH. This study suggests that germ-line DICER1 mutations make a clinically significant contribution to PinB, establishing DICER1 as an important susceptibility gene for PinB and demonstrates PinB to be a manifestation of a germ-line DICER1 mutation. The means by which the second allele is inactivated may differ from other DICER1-related tumours.</span></div><div class="wp-workCard_item wp-workCard--actions"><span class="work-strip-bookmark-button-container"></span><span class="wp-workCard--action visible-if-viewed-by-owner inline-block" style="display: none;"><span class="js-profile-work-strip-edit-button-wrapper profile-work-strip-edit-button-wrapper" data-work-id="12632512"><a class="js-profile-work-strip-edit-button" tabindex="0"><span><i class="fa fa-pencil"></i></span><span>Edit</span></a></span></span><span id="work-strip-rankings-button-container"></span></div><div class="wp-workCard_item wp-workCard--stats"><span><span><span class="js-view-count view-count u-mr2x" data-work-id="12632512"><i class="fa fa-spinner fa-spin"></i></span><script>$(function () { var workId = 12632512; window.Academia.workViewCountsFetcher.queue(workId, function (count) { var description = window.$h.commaizeInt(count) + " " + window.$h.pluralize(count, 'View'); $(".js-view-count[data-work-id=12632512]").text(description); $(".js-view-count[data-work-id=12632512]").attr('title', description).tooltip(); }); });</script></span></span><span><span class="percentile-widget hidden"><span class="u-mr2x work-percentile"></span></span><script>$(function () { var workId = 12632512; window.Academia.workPercentilesFetcher.queue(workId, function (percentileText) { var container = $(".js-work-strip[data-work-id='12632512']"); container.find('.work-percentile').text(percentileText.charAt(0).toUpperCase() + percentileText.slice(1)); container.find('.percentile-widget').show(); container.find('.percentile-widget').removeClass('hidden'); }); });</script></span><span><script>$(function() { new Works.PaperRankView({ workId: 12632512, container: "", }); });</script></span></div><div id="work-strip-premium-row-container"></div></div></div><script> require.config({ waitSeconds: 90 })(["https://a.academia-assets.com/assets/wow_profile-f77ea15d77ce96025a6048a514272ad8becbad23c641fc2b3bd6e24ca6ff1932.js","https://a.academia-assets.com/assets/work_edit-ad038b8c047c1a8d4fa01b402d530ff93c45fee2137a149a4a5398bc8ad67560.js"], function() { // from javascript_helper.rb var dispatcherData = {} if (false){ window.WowProfile.dispatcher = window.WowProfile.dispatcher || _.clone(Backbone.Events); dispatcherData = { dispatcher: window.WowProfile.dispatcher, downloadLinkId: "-1" } } $('.js-work-strip[data-work-id=12632512]').each(function() { if (!$(this).data('initialized')) { new WowProfile.WorkStripView({ el: this, workJSON: {"id":12632512,"title":"Germ-line and somatic DICER1 mutations in pineoblastoma","translated_title":"","metadata":{"abstract":"Germ-line RB-1 mutations predispose to pineoblastoma (PinB), but other predisposing genetic factors are not well established. We recently identified a germ-line DICER1 mutation in a child with a PinB. This was accompanied by loss of heterozygosity (LOH) of the wild-type allele within the tumour. We set out to establish the prevalence of DICER1 mutations in an opportunistically ascertained series of PinBs. Twenty-one PinB cases were studied: Eighteen cases had not undergone previous testing for DICER1 mutations; three patients were known carriers of germ-line DICER1 mutations. The eighteen PinBs were sequenced by Sanger and/or Fluidigm-based next-generation sequencing to identify DICER1 mutations in blood gDNA and/or tumour gDNA. Testing for somatic DICER1 mutations was also conducted on one case with a known germ-line DICER1 mutation. From the eighteen PinBs, we identified four deleterious DICER1 mutations, three of which were germ line in origin, and one for which a germ line versus somatic origin could not be determined; in all four, the second allele was also inactivated leading to complete loss of DICER1 protein. No somatic DICER1 RNase IIIb mutations were identified. One PinB arising in a germ-line DICER1 mutation carrier was found to have LOH. This study suggests that germ-line DICER1 mutations make a clinically significant contribution to PinB, establishing DICER1 as an important susceptibility gene for PinB and demonstrates PinB to be a manifestation of a germ-line DICER1 mutation. The means by which the second allele is inactivated may differ from other DICER1-related tumours.","publication_date":{"day":null,"month":null,"year":2014,"errors":{}},"publication_name":"Acta Neuropathologica"},"translated_abstract":"Germ-line RB-1 mutations predispose to pineoblastoma (PinB), but other predisposing genetic factors are not well established. We recently identified a germ-line DICER1 mutation in a child with a PinB. This was accompanied by loss of heterozygosity (LOH) of the wild-type allele within the tumour. We set out to establish the prevalence of DICER1 mutations in an opportunistically ascertained series of PinBs. Twenty-one PinB cases were studied: Eighteen cases had not undergone previous testing for DICER1 mutations; three patients were known carriers of germ-line DICER1 mutations. The eighteen PinBs were sequenced by Sanger and/or Fluidigm-based next-generation sequencing to identify DICER1 mutations in blood gDNA and/or tumour gDNA. Testing for somatic DICER1 mutations was also conducted on one case with a known germ-line DICER1 mutation. From the eighteen PinBs, we identified four deleterious DICER1 mutations, three of which were germ line in origin, and one for which a germ line versus somatic origin could not be determined; in all four, the second allele was also inactivated leading to complete loss of DICER1 protein. No somatic DICER1 RNase IIIb mutations were identified. One PinB arising in a germ-line DICER1 mutation carrier was found to have LOH. This study suggests that germ-line DICER1 mutations make a clinically significant contribution to PinB, establishing DICER1 as an important susceptibility gene for PinB and demonstrates PinB to be a manifestation of a germ-line DICER1 mutation. The means by which the second allele is inactivated may differ from other DICER1-related tumours.","internal_url":"https://www.academia.edu/12632512/Germ_line_and_somatic_DICER1_mutations_in_pineoblastoma","translated_internal_url":"","created_at":"2015-05-27T09:37:35.539-07:00","preview_url":null,"current_user_can_edit":null,"current_user_is_owner":null,"owner_id":31600762,"coauthors_can_edit":true,"document_type":"paper","co_author_tags":[],"downloadable_attachments":[],"slug":"Germ_line_and_somatic_DICER1_mutations_in_pineoblastoma","translated_slug":"","page_count":null,"language":"en","content_type":"Work","owner":{"id":31600762,"first_name":"Nancy","middle_initials":null,"last_name":"Hamel","page_name":"NancyHamel","domain_name":"independent","created_at":"2015-05-27T09:36:34.282-07:00","display_name":"Nancy Hamel","url":"https://independent.academia.edu/NancyHamel"},"attachments":[],"research_interests":[{"id":22506,"name":"Adolescent","url":"https://www.academia.edu/Documents/in/Adolescent"},{"id":64933,"name":"Child","url":"https://www.academia.edu/Documents/in/Child"},{"id":133057,"name":"Young Adult","url":"https://www.academia.edu/Documents/in/Young_Adult"},{"id":134346,"name":"Infant","url":"https://www.academia.edu/Documents/in/Infant"},{"id":244814,"name":"Clinical Sciences","url":"https://www.academia.edu/Documents/in/Clinical_Sciences"},{"id":341087,"name":"Family Health","url":"https://www.academia.edu/Documents/in/Family_Health"},{"id":613283,"name":"Pineal Gland","url":"https://www.academia.edu/Documents/in/Pineal_Gland"},{"id":1239755,"name":"Neurosciences","url":"https://www.academia.edu/Documents/in/Neurosciences"},{"id":1425045,"name":"Brain Neoplasms","url":"https://www.academia.edu/Documents/in/Brain_Neoplasms"}],"urls":[]}, dispatcherData: dispatcherData }); $(this).data('initialized', true); } }); $a.trackClickSource(".js-work-strip-work-link", "profile_work_strip") }); </script> <div class="js-work-strip profile--work_container" data-work-id="12632511"><div class="profile--work_thumbnail hidden-xs"><a class="js-work-strip-work-link" data-click-track="profile-work-strip-thumbnail" href="https://www.academia.edu/12632511/Analysis_of_PALB2_FANCN_associated_breast_cancer_families"><img alt="Research paper thumbnail of Analysis of PALB2/FANCN-associated breast cancer families" class="work-thumbnail" src="https://attachments.academia-assets.com/46037466/thumbnails/1.jpg" /></a></div><div class="wp-workCard wp-workCard_itemContainer"><div class="wp-workCard_item wp-workCard--title"><a class="js-work-strip-work-link text-gray-darker" data-click-track="profile-work-strip-title" href="https://www.academia.edu/12632511/Analysis_of_PALB2_FANCN_associated_breast_cancer_families">Analysis of PALB2/FANCN-associated breast cancer families</a></div><div class="wp-workCard_item"><span>Proceedings of the National Academy of Sciences</span><span>, 2007</span></div><div class="wp-workCard_item wp-workCard--actions"><span class="work-strip-bookmark-button-container"></span><a id="d5e10bfa636257c65ab066e69abde3cb" class="wp-workCard--action" rel="nofollow" data-click-track="profile-work-strip-download" data-download="{"attachment_id":46037466,"asset_id":12632511,"asset_type":"Work","button_location":"profile"}" href="https://www.academia.edu/attachments/46037466/download_file?st=MTczMjk5MzEwOCw4LjIyMi4yMDguMTQ2&s=profile"><span><i class="fa fa-arrow-down"></i></span><span>Download</span></a><span class="wp-workCard--action visible-if-viewed-by-owner inline-block" style="display: none;"><span class="js-profile-work-strip-edit-button-wrapper profile-work-strip-edit-button-wrapper" data-work-id="12632511"><a class="js-profile-work-strip-edit-button" tabindex="0"><span><i class="fa fa-pencil"></i></span><span>Edit</span></a></span></span><span id="work-strip-rankings-button-container"></span></div><div class="wp-workCard_item wp-workCard--stats"><span><span><span class="js-view-count view-count u-mr2x" data-work-id="12632511"><i class="fa fa-spinner fa-spin"></i></span><script>$(function () { var workId = 12632511; 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dispatcherData = { dispatcher: window.WowProfile.dispatcher, downloadLinkId: "d5e10bfa636257c65ab066e69abde3cb" } } $('.js-work-strip[data-work-id=12632511]').each(function() { if (!$(this).data('initialized')) { new WowProfile.WorkStripView({ el: this, workJSON: {"id":12632511,"title":"Analysis of PALB2/FANCN-associated breast cancer families","translated_title":"","metadata":{"grobid_abstract":"No more than 戏30% of hereditary breast cancer has been accounted for by mutations in known genes. Most of these genes, such as BRCA1, BRCA2, TP53, CHEK2, ATM, and FANCJ/BRIP1, function in DNA repair, raising the possibility that germ line mutations in other genes that contribute to this process also predispose to breast cancer. Given its close relationship with BRCA2, PALB2 was sequenced in affected probands from 68 BRCA1/BRCA2-negative breast cancer families of Ashkenazi Jewish, French Canadian, or mixed ethnic descent. The average BRCAPRO score was 0.58. A truncating mutation (229delT) was identified in one family with a strong history of breast cancer (seven breast cancers in three female mutation carriers). This mutation and its associated breast cancers were characterized with another recently reported but unstudied mutation (2521delA) that is also associated with a strong family history of breast cancer. There was no loss of heterozygosity in tumors with either mutation. Moreover, comparative genomic hybridization analysis showed major similarities to that of BRCA2 tumors but with some notable differences, especially loss of 18q, a change that was previously unknown in BRCA2 tumors and less common in sporadic breast cancer. This study supports recent observations that PALB2 mutations are present, albeit not frequently, in breast cancer families. The apparently high penetrance noted in this study suggests that at least some PALB2 mutations are associated with a substantially increased risk for the disease.","publication_date":{"day":null,"month":null,"year":2007,"errors":{}},"publication_name":"Proceedings of the National Academy of Sciences","grobid_abstract_attachment_id":46037466},"translated_abstract":null,"internal_url":"https://www.academia.edu/12632511/Analysis_of_PALB2_FANCN_associated_breast_cancer_families","translated_internal_url":"","created_at":"2015-05-27T09:37:35.419-07:00","preview_url":null,"current_user_can_edit":null,"current_user_is_owner":null,"owner_id":31600762,"coauthors_can_edit":true,"document_type":"paper","co_author_tags":[],"downloadable_attachments":[{"id":46037466,"title":"","file_type":"pdf","scribd_thumbnail_url":"https://attachments.academia-assets.com/46037466/thumbnails/1.jpg","file_name":"Analysis_of_PALB2FANCN-associated_breast20160529-27068-1ithhnt.pdf","download_url":"https://www.academia.edu/attachments/46037466/download_file?st=MTczMjk5MzEwOCw4LjIyMi4yMDguMTQ2&","bulk_download_file_name":"Analysis_of_PALB2_FANCN_associated_breas.pdf","bulk_download_url":"https://d1wqtxts1xzle7.cloudfront.net/46037466/Analysis_of_PALB2FANCN-associated_breast20160529-27068-1ithhnt-libre.pdf?1464514406=\u0026response-content-disposition=attachment%3B+filename%3DAnalysis_of_PALB2_FANCN_associated_breas.pdf\u0026Expires=1732996708\u0026Signature=dQqEUBTIpqDy9hrXtvMuyC21BAPYfN3WMfQBJFQJ8sq3aAWdfiqh4T5UxpeUiMgXTvQ7OI38xJjXMV7Ri9vb8FhOZF0hZmcMuZZg2oaSb4y~Jka1sXGCkJZi55cizfkIBMTk1tNsbsG~hQ0ML~szn~-NVEYckA-QmxlXx9wNRFVcQiDu6H9tl8eAr~q9cE--okwIdINSyQG~WTiw~7B3sN6XU7poN48qlU-CmweYJsGg2Lb5e2iii30~YOB17fOSvI5E0gnvzd1F~nsgtDEhNS8t2mDYMW4AIE1vDumgcRydNkyfnmYIzsXTUmd8mLpJMUrfByhemwEXqGT~QsCDwg__\u0026Key-Pair-Id=APKAJLOHF5GGSLRBV4ZA"}],"slug":"Analysis_of_PALB2_FANCN_associated_breast_cancer_families","translated_slug":"","page_count":6,"language":"en","content_type":"Work","owner":{"id":31600762,"first_name":"Nancy","middle_initials":null,"last_name":"Hamel","page_name":"NancyHamel","domain_name":"independent","created_at":"2015-05-27T09:36:34.282-07:00","display_name":"Nancy Hamel","url":"https://independent.academia.edu/NancyHamel"},"attachments":[{"id":46037466,"title":"","file_type":"pdf","scribd_thumbnail_url":"https://attachments.academia-assets.com/46037466/thumbnails/1.jpg","file_name":"Analysis_of_PALB2FANCN-associated_breast20160529-27068-1ithhnt.pdf","download_url":"https://www.academia.edu/attachments/46037466/download_file?st=MTczMjk5MzEwOCw4LjIyMi4yMDguMTQ2&","bulk_download_file_name":"Analysis_of_PALB2_FANCN_associated_breas.pdf","bulk_download_url":"https://d1wqtxts1xzle7.cloudfront.net/46037466/Analysis_of_PALB2FANCN-associated_breast20160529-27068-1ithhnt-libre.pdf?1464514406=\u0026response-content-disposition=attachment%3B+filename%3DAnalysis_of_PALB2_FANCN_associated_breas.pdf\u0026Expires=1732996708\u0026Signature=dQqEUBTIpqDy9hrXtvMuyC21BAPYfN3WMfQBJFQJ8sq3aAWdfiqh4T5UxpeUiMgXTvQ7OI38xJjXMV7Ri9vb8FhOZF0hZmcMuZZg2oaSb4y~Jka1sXGCkJZi55cizfkIBMTk1tNsbsG~hQ0ML~szn~-NVEYckA-QmxlXx9wNRFVcQiDu6H9tl8eAr~q9cE--okwIdINSyQG~WTiw~7B3sN6XU7poN48qlU-CmweYJsGg2Lb5e2iii30~YOB17fOSvI5E0gnvzd1F~nsgtDEhNS8t2mDYMW4AIE1vDumgcRydNkyfnmYIzsXTUmd8mLpJMUrfByhemwEXqGT~QsCDwg__\u0026Key-Pair-Id=APKAJLOHF5GGSLRBV4ZA"}],"research_interests":[{"id":6802,"name":"Breast Cancer","url":"https://www.academia.edu/Documents/in/Breast_Cancer"},{"id":23067,"name":"DNA repair","url":"https://www.academia.edu/Documents/in/DNA_repair"},{"id":28235,"name":"Multidisciplinary","url":"https://www.academia.edu/Documents/in/Multidisciplinary"},{"id":32159,"name":"Family history","url":"https://www.academia.edu/Documents/in/Family_history"},{"id":82270,"name":"Close relationships","url":"https://www.academia.edu/Documents/in/Close_relationships"},{"id":99023,"name":"Melanoma","url":"https://www.academia.edu/Documents/in/Melanoma"},{"id":176832,"name":"Fanconi anemia","url":"https://www.academia.edu/Documents/in/Fanconi_anemia"},{"id":188349,"name":"Pedigree","url":"https://www.academia.edu/Documents/in/Pedigree"}],"urls":[]}, dispatcherData: dispatcherData }); $(this).data('initialized', true); } }); $a.trackClickSource(".js-work-strip-work-link", "profile_work_strip") }); </script> <div class="js-work-strip profile--work_container" data-work-id="12632510"><div class="profile--work_thumbnail hidden-xs"><a class="js-work-strip-work-link" data-click-track="profile-work-strip-thumbnail" href="https://www.academia.edu/12632510/Homozygous_BUB1B_Mutation_and_Susceptibility_to_Gastrointestinal_Neoplasia"><img alt="Research paper thumbnail of Homozygous BUB1B Mutation and Susceptibility to Gastrointestinal Neoplasia" class="work-thumbnail" src="https://attachments.academia-assets.com/46037454/thumbnails/1.jpg" /></a></div><div class="wp-workCard wp-workCard_itemContainer"><div class="wp-workCard_item wp-workCard--title"><a class="js-work-strip-work-link text-gray-darker" data-click-track="profile-work-strip-title" href="https://www.academia.edu/12632510/Homozygous_BUB1B_Mutation_and_Susceptibility_to_Gastrointestinal_Neoplasia">Homozygous BUB1B Mutation and Susceptibility to Gastrointestinal Neoplasia</a></div><div class="wp-workCard_item"><span>New England Journal of Medicine</span><span>, 2010</span></div><div class="wp-workCard_item wp-workCard--actions"><span class="work-strip-bookmark-button-container"></span><a id="11720bee51ad009e3d08c6bde6d4300f" class="wp-workCard--action" rel="nofollow" data-click-track="profile-work-strip-download" data-download="{"attachment_id":46037454,"asset_id":12632510,"asset_type":"Work","button_location":"profile"}" href="https://www.academia.edu/attachments/46037454/download_file?st=MTczMjk5MzEwOCw4LjIyMi4yMDguMTQ2&s=profile"><span><i class="fa fa-arrow-down"></i></span><span>Download</span></a><span class="wp-workCard--action visible-if-viewed-by-owner inline-block" style="display: none;"><span class="js-profile-work-strip-edit-button-wrapper profile-work-strip-edit-button-wrapper" data-work-id="12632510"><a class="js-profile-work-strip-edit-button" tabindex="0"><span><i class="fa fa-pencil"></i></span><span>Edit</span></a></span></span><span id="work-strip-rankings-button-container"></span></div><div class="wp-workCard_item wp-workCard--stats"><span><span><span class="js-view-count view-count u-mr2x" data-work-id="12632510"><i class="fa fa-spinner fa-spin"></i></span><script>$(function () { var workId = 12632510; 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dispatcherData = { dispatcher: window.WowProfile.dispatcher, downloadLinkId: "11720bee51ad009e3d08c6bde6d4300f" } } $('.js-work-strip[data-work-id=12632510]').each(function() { if (!$(this).data('initialized')) { new WowProfile.WorkStripView({ el: this, workJSON: {"id":12632510,"title":"Homozygous BUB1B Mutation and Susceptibility to Gastrointestinal Neoplasia","translated_title":"","metadata":{"grobid_abstract":"A patient received a diagnosis of adenocarcinoma of the ampulla of Vater at 34 years of age. Two decades later, adenomatous polyps were found, followed by multiple primary invasive adenocarcinomas of both the colon and the stomach. Premature chromatid separation and mosaic variegated aneuploidy, combined with structural chromosomal abnormalities, were detected in his cells. We identified a germline homozygous intronic mutation, c.2386-11A鈫扜, in the spindle-assembly checkpoint gene BUB1B, which creates a de novo splice site that is favored over the authentic (i.e., preferentially used) site. Our findings expand the phenotype associated with BUB1B mutations and the mosaic variegated aneuploidy syndrome to include common adult-onset cancers and provide evidence for the interdependency of the APC protein (encoded by the adenomatous polyposis coli gene) and the BUBR1 protein (encoded by BUB1B) in humans. 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$(this).data('initialized', true); } }); $a.trackClickSource(".js-work-strip-work-link", "profile_work_strip") }); </script> <div class="js-work-strip profile--work_container" data-work-id="12632509"><div class="profile--work_thumbnail hidden-xs"><a class="js-work-strip-work-link" data-click-track="profile-work-strip-thumbnail" href="https://www.academia.edu/12632509/Familial_prostate_cancer_the_damage_done_and_lessons_learnt"><img alt="Research paper thumbnail of Familial prostate cancer: the damage done and lessons learnt" class="work-thumbnail" src="https://a.academia-assets.com/images/blank-paper.jpg" /></a></div><div class="wp-workCard wp-workCard_itemContainer"><div class="wp-workCard_item wp-workCard--title"><a class="js-work-strip-work-link text-gray-darker" data-click-track="profile-work-strip-title" href="https://www.academia.edu/12632509/Familial_prostate_cancer_the_damage_done_and_lessons_learnt">Familial prostate cancer: the damage done and lessons learnt</a></div><div class="wp-workCard_item"><span>Nature Reviews Urology</span><span>, 2013</span></div><div class="wp-workCard_item"><span class="js-work-more-abstract-truncated">A 51-year-old French Canadian man presented to his family physician owing to an extensive family ...</span><a class="js-work-more-abstract" data-broccoli-component="work_strip.more_abstract" data-click-track="profile-work-strip-more-abstract" href="javascript:;"><span> more </span><span><i class="fa fa-caret-down"></i></span></a><span class="js-work-more-abstract-untruncated hidden">A 51-year-old French Canadian man presented to his family physician owing to an extensive family history of prostate cancer in five brothers, his father and two paternal uncles. His serum PSA level was 4.9 ng/ml and a six-core biopsy revealed the presence of a prostate adenocarcinoma with a Gleason score of 7 (3+4). He was treated with radical prostatectomy. Repeat PSA tests revealed a gradual rise in PSA levels despite androgen deprivation therapy with bicalutamide and goserelin over the course of 3 years. Genetic evaluation was undertaken in view of his personal and family history. The proband died at the age of 58 years of widespread metastasis. PSA testing, six-core biopsy, genetic counselling and mutation analysis for French Canadian founder mutations in the BRCA1 and BRCA2 genes, histopathological review of tumour tissue from family members, examination of loss of heterozygosity at the BRCA2 gene locus, immunohistochemistry to determine the expression of the ERG nuclear oncoprotein in prostate tumours, genotyping with eight selected risk-associated single nucleotide polymorphisms, Doppler ultrasonography of the leg, CT of the abdomen and pelvis with intravenous and oral contrast, chest CT with intravenous contrast for the assessment of metastatic prostate cancer, genetic testing for the G84E variant in the HOXB13 gene. Early-onset and aggressive prostate cancer associated with a nonsense French Canadian BRCA2 founder mutation, c.5857G&amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;gt;T (p.Glu1953(*)). Radical prostatectomy, hormone therapy with bicalutamide and goserelin, palliative chemotherapy initially with docetaxel plus prednisone then with mitoxantrone plus prednisone, as well as genetic counselling and testing for the proband and his family members.</span></div><div class="wp-workCard_item wp-workCard--actions"><span class="work-strip-bookmark-button-container"></span><span class="wp-workCard--action visible-if-viewed-by-owner inline-block" style="display: none;"><span class="js-profile-work-strip-edit-button-wrapper profile-work-strip-edit-button-wrapper" data-work-id="12632509"><a class="js-profile-work-strip-edit-button" tabindex="0"><span><i class="fa fa-pencil"></i></span><span>Edit</span></a></span></span><span id="work-strip-rankings-button-container"></span></div><div class="wp-workCard_item wp-workCard--stats"><span><span><span class="js-view-count view-count u-mr2x" data-work-id="12632509"><i class="fa fa-spinner fa-spin"></i></span><script>$(function () { var workId = 12632509; window.Academia.workViewCountsFetcher.queue(workId, function (count) { var description = window.$h.commaizeInt(count) + " " + window.$h.pluralize(count, 'View'); $(".js-view-count[data-work-id=12632509]").text(description); $(".js-view-count[data-work-id=12632509]").attr('title', description).tooltip(); }); });</script></span></span><span><span class="percentile-widget hidden"><span class="u-mr2x work-percentile"></span></span><script>$(function () { var workId = 12632509; window.Academia.workPercentilesFetcher.queue(workId, function (percentileText) { var container = $(".js-work-strip[data-work-id='12632509']"); container.find('.work-percentile').text(percentileText.charAt(0).toUpperCase() + percentileText.slice(1)); container.find('.percentile-widget').show(); container.find('.percentile-widget').removeClass('hidden'); }); });</script></span><span><script>$(function() { new Works.PaperRankView({ workId: 12632509, container: "", }); });</script></span></div><div id="work-strip-premium-row-container"></div></div></div><script> require.config({ waitSeconds: 90 })(["https://a.academia-assets.com/assets/wow_profile-f77ea15d77ce96025a6048a514272ad8becbad23c641fc2b3bd6e24ca6ff1932.js","https://a.academia-assets.com/assets/work_edit-ad038b8c047c1a8d4fa01b402d530ff93c45fee2137a149a4a5398bc8ad67560.js"], function() { // from javascript_helper.rb var dispatcherData = {} if (false){ window.WowProfile.dispatcher = window.WowProfile.dispatcher || _.clone(Backbone.Events); dispatcherData = { dispatcher: window.WowProfile.dispatcher, downloadLinkId: "-1" } } $('.js-work-strip[data-work-id=12632509]').each(function() { if (!$(this).data('initialized')) { new WowProfile.WorkStripView({ el: this, workJSON: {"id":12632509,"title":"Familial prostate cancer: the damage done and lessons learnt","translated_title":"","metadata":{"abstract":"A 51-year-old French Canadian man presented to his family physician owing to an extensive family history of prostate cancer in five brothers, his father and two paternal uncles. His serum PSA level was 4.9 ng/ml and a six-core biopsy revealed the presence of a prostate adenocarcinoma with a Gleason score of 7 (3+4). He was treated with radical prostatectomy. Repeat PSA tests revealed a gradual rise in PSA levels despite androgen deprivation therapy with bicalutamide and goserelin over the course of 3 years. Genetic evaluation was undertaken in view of his personal and family history. The proband died at the age of 58 years of widespread metastasis. PSA testing, six-core biopsy, genetic counselling and mutation analysis for French Canadian founder mutations in the BRCA1 and BRCA2 genes, histopathological review of tumour tissue from family members, examination of loss of heterozygosity at the BRCA2 gene locus, immunohistochemistry to determine the expression of the ERG nuclear oncoprotein in prostate tumours, genotyping with eight selected risk-associated single nucleotide polymorphisms, Doppler ultrasonography of the leg, CT of the abdomen and pelvis with intravenous and oral contrast, chest CT with intravenous contrast for the assessment of metastatic prostate cancer, genetic testing for the G84E variant in the HOXB13 gene. Early-onset and aggressive prostate cancer associated with a nonsense French Canadian BRCA2 founder mutation, c.5857G\u0026amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;gt;T (p.Glu1953(*)). Radical prostatectomy, hormone therapy with bicalutamide and goserelin, palliative chemotherapy initially with docetaxel plus prednisone then with mitoxantrone plus prednisone, as well as genetic counselling and testing for the proband and his family members.","publication_date":{"day":null,"month":null,"year":2013,"errors":{}},"publication_name":"Nature Reviews Urology"},"translated_abstract":"A 51-year-old French Canadian man presented to his family physician owing to an extensive family history of prostate cancer in five brothers, his father and two paternal uncles. His serum PSA level was 4.9 ng/ml and a six-core biopsy revealed the presence of a prostate adenocarcinoma with a Gleason score of 7 (3+4). He was treated with radical prostatectomy. Repeat PSA tests revealed a gradual rise in PSA levels despite androgen deprivation therapy with bicalutamide and goserelin over the course of 3 years. Genetic evaluation was undertaken in view of his personal and family history. The proband died at the age of 58 years of widespread metastasis. PSA testing, six-core biopsy, genetic counselling and mutation analysis for French Canadian founder mutations in the BRCA1 and BRCA2 genes, histopathological review of tumour tissue from family members, examination of loss of heterozygosity at the BRCA2 gene locus, immunohistochemistry to determine the expression of the ERG nuclear oncoprotein in prostate tumours, genotyping with eight selected risk-associated single nucleotide polymorphisms, Doppler ultrasonography of the leg, CT of the abdomen and pelvis with intravenous and oral contrast, chest CT with intravenous contrast for the assessment of metastatic prostate cancer, genetic testing for the G84E variant in the HOXB13 gene. Early-onset and aggressive prostate cancer associated with a nonsense French Canadian BRCA2 founder mutation, c.5857G\u0026amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;gt;T (p.Glu1953(*)). Radical prostatectomy, hormone therapy with bicalutamide and goserelin, palliative chemotherapy initially with docetaxel plus prednisone then with mitoxantrone plus prednisone, as well as genetic counselling and testing for the proband and his family members.","internal_url":"https://www.academia.edu/12632509/Familial_prostate_cancer_the_damage_done_and_lessons_learnt","translated_internal_url":"","created_at":"2015-05-27T09:37:35.173-07:00","preview_url":null,"current_user_can_edit":null,"current_user_is_owner":null,"owner_id":31600762,"coauthors_can_edit":true,"document_type":"paper","co_author_tags":[],"downloadable_attachments":[],"slug":"Familial_prostate_cancer_the_damage_done_and_lessons_learnt","translated_slug":"","page_count":null,"language":"en","content_type":"Work","owner":{"id":31600762,"first_name":"Nancy","middle_initials":null,"last_name":"Hamel","page_name":"NancyHamel","domain_name":"independent","created_at":"2015-05-27T09:36:34.282-07:00","display_name":"Nancy Hamel","url":"https://independent.academia.edu/NancyHamel"},"attachments":[],"research_interests":[{"id":188349,"name":"Pedigree","url":"https://www.academia.edu/Documents/in/Pedigree"},{"id":244814,"name":"Clinical Sciences","url":"https://www.academia.edu/Documents/in/Clinical_Sciences"}],"urls":[]}, dispatcherData: dispatcherData }); $(this).data('initialized', true); } }); $a.trackClickSource(".js-work-strip-work-link", "profile_work_strip") }); </script> <div class="js-work-strip profile--work_container" data-work-id="12632508"><div class="profile--work_thumbnail hidden-xs"><a class="js-work-strip-work-link" data-click-track="profile-work-strip-thumbnail" href="https://www.academia.edu/12632508/Germline_and_somatic_SMARCA4_mutations_characterize_small_cell_carcinoma_of_the_ovary_hypercalcemic_type"><img alt="Research paper thumbnail of Germline and somatic SMARCA4 mutations characterize small cell carcinoma of the ovary, hypercalcemic type" class="work-thumbnail" src="https://a.academia-assets.com/images/blank-paper.jpg" /></a></div><div class="wp-workCard wp-workCard_itemContainer"><div class="wp-workCard_item wp-workCard--title"><a class="js-work-strip-work-link text-gray-darker" data-click-track="profile-work-strip-title" href="https://www.academia.edu/12632508/Germline_and_somatic_SMARCA4_mutations_characterize_small_cell_carcinoma_of_the_ovary_hypercalcemic_type">Germline and somatic SMARCA4 mutations characterize small cell carcinoma of the ovary, hypercalcemic type</a></div><div class="wp-workCard_item"><span>Nature Genetics</span><span>, 2014</span></div><div class="wp-workCard_item"><span class="js-work-more-abstract-truncated">Small cell carcinoma of the ovary, hypercalcemic type (SCCOHT) is the most common undifferentiate...</span><a class="js-work-more-abstract" data-broccoli-component="work_strip.more_abstract" data-click-track="profile-work-strip-more-abstract" href="javascript:;"><span> more </span><span><i class="fa fa-caret-down"></i></span></a><span class="js-work-more-abstract-untruncated hidden">Small cell carcinoma of the ovary, hypercalcemic type (SCCOHT) is the most common undifferentiated ovarian malignancy in women under 40 years of age. We sequenced the exomes of six individuals from three families with SCCOHT. After discovering segregating deleterious germline mutations in SMARCA4 in all three families, we tested DNA from a fourth affected family, which also carried a segregating SMARCA4 germline mutation. All the familial tumors sequenced harbored either a somatic mutation or loss of the wild-type allele. Immunohistochemical analysis of these cases and additional familial and non-familial cases showed loss of SMARCA4 (BRG1) protein in 38 of 40 tumors overall. Sequencing of cases with available DNA identified at least one germline or somatic deleterious SMARCA4 mutation in 30 of 32 cases. Additionally, the SCCOHT cell line BIN-67 had biallelic deleterious mutations in SMARCA4. Our findings identify alterations in SMARCA4 as the major cause of SCCOHT, which could lead to improvements in genetic counseling and new treatment approaches.</span></div><div class="wp-workCard_item wp-workCard--actions"><span class="work-strip-bookmark-button-container"></span><span class="wp-workCard--action visible-if-viewed-by-owner inline-block" style="display: none;"><span class="js-profile-work-strip-edit-button-wrapper profile-work-strip-edit-button-wrapper" data-work-id="12632508"><a class="js-profile-work-strip-edit-button" tabindex="0"><span><i class="fa fa-pencil"></i></span><span>Edit</span></a></span></span><span id="work-strip-rankings-button-container"></span></div><div class="wp-workCard_item wp-workCard--stats"><span><span><span class="js-view-count view-count u-mr2x" data-work-id="12632508"><i class="fa fa-spinner fa-spin"></i></span><script>$(function () { var workId = 12632508; window.Academia.workViewCountsFetcher.queue(workId, function (count) { var description = window.$h.commaizeInt(count) + " " + window.$h.pluralize(count, 'View'); $(".js-view-count[data-work-id=12632508]").text(description); $(".js-view-count[data-work-id=12632508]").attr('title', description).tooltip(); }); });</script></span></span><span><span class="percentile-widget hidden"><span class="u-mr2x work-percentile"></span></span><script>$(function () { var workId = 12632508; window.Academia.workPercentilesFetcher.queue(workId, function (percentileText) { var container = $(".js-work-strip[data-work-id='12632508']"); container.find('.work-percentile').text(percentileText.charAt(0).toUpperCase() + percentileText.slice(1)); container.find('.percentile-widget').show(); container.find('.percentile-widget').removeClass('hidden'); }); });</script></span><span><script>$(function() { new Works.PaperRankView({ workId: 12632508, container: "", }); });</script></span></div><div id="work-strip-premium-row-container"></div></div></div><script> require.config({ waitSeconds: 90 })(["https://a.academia-assets.com/assets/wow_profile-f77ea15d77ce96025a6048a514272ad8becbad23c641fc2b3bd6e24ca6ff1932.js","https://a.academia-assets.com/assets/work_edit-ad038b8c047c1a8d4fa01b402d530ff93c45fee2137a149a4a5398bc8ad67560.js"], function() { // from javascript_helper.rb var dispatcherData = {} if (false){ window.WowProfile.dispatcher = window.WowProfile.dispatcher || _.clone(Backbone.Events); dispatcherData = { dispatcher: window.WowProfile.dispatcher, downloadLinkId: "-1" } } $('.js-work-strip[data-work-id=12632508]').each(function() { if (!$(this).data('initialized')) { new WowProfile.WorkStripView({ el: this, workJSON: {"id":12632508,"title":"Germline and somatic SMARCA4 mutations characterize small cell carcinoma of the ovary, hypercalcemic type","translated_title":"","metadata":{"abstract":"Small cell carcinoma of the ovary, hypercalcemic type (SCCOHT) is the most common undifferentiated ovarian malignancy in women under 40 years of age. We sequenced the exomes of six individuals from three families with SCCOHT. After discovering segregating deleterious germline mutations in SMARCA4 in all three families, we tested DNA from a fourth affected family, which also carried a segregating SMARCA4 germline mutation. All the familial tumors sequenced harbored either a somatic mutation or loss of the wild-type allele. Immunohistochemical analysis of these cases and additional familial and non-familial cases showed loss of SMARCA4 (BRG1) protein in 38 of 40 tumors overall. Sequencing of cases with available DNA identified at least one germline or somatic deleterious SMARCA4 mutation in 30 of 32 cases. Additionally, the SCCOHT cell line BIN-67 had biallelic deleterious mutations in SMARCA4. Our findings identify alterations in SMARCA4 as the major cause of SCCOHT, which could lead to improvements in genetic counseling and new treatment approaches.","publication_date":{"day":null,"month":null,"year":2014,"errors":{}},"publication_name":"Nature Genetics"},"translated_abstract":"Small cell carcinoma of the ovary, hypercalcemic type (SCCOHT) is the most common undifferentiated ovarian malignancy in women under 40 years of age. We sequenced the exomes of six individuals from three families with SCCOHT. After discovering segregating deleterious germline mutations in SMARCA4 in all three families, we tested DNA from a fourth affected family, which also carried a segregating SMARCA4 germline mutation. All the familial tumors sequenced harbored either a somatic mutation or loss of the wild-type allele. Immunohistochemical analysis of these cases and additional familial and non-familial cases showed loss of SMARCA4 (BRG1) protein in 38 of 40 tumors overall. Sequencing of cases with available DNA identified at least one germline or somatic deleterious SMARCA4 mutation in 30 of 32 cases. Additionally, the SCCOHT cell line BIN-67 had biallelic deleterious mutations in SMARCA4. Our findings identify alterations in SMARCA4 as the major cause of SCCOHT, which could lead to improvements in genetic counseling and new treatment approaches.","internal_url":"https://www.academia.edu/12632508/Germline_and_somatic_SMARCA4_mutations_characterize_small_cell_carcinoma_of_the_ovary_hypercalcemic_type","translated_internal_url":"","created_at":"2015-05-27T09:37:35.077-07:00","preview_url":null,"current_user_can_edit":null,"current_user_is_owner":null,"owner_id":31600762,"coauthors_can_edit":true,"document_type":"paper","co_author_tags":[],"downloadable_attachments":[],"slug":"Germline_and_somatic_SMARCA4_mutations_characterize_small_cell_carcinoma_of_the_ovary_hypercalcemic_type","translated_slug":"","page_count":null,"language":"en","content_type":"Work","owner":{"id":31600762,"first_name":"Nancy","middle_initials":null,"last_name":"Hamel","page_name":"NancyHamel","domain_name":"independent","created_at":"2015-05-27T09:36:34.282-07:00","display_name":"Nancy Hamel","url":"https://independent.academia.edu/NancyHamel"},"attachments":[],"research_interests":[{"id":12071,"name":"Immunohistochemistry","url":"https://www.academia.edu/Documents/in/Immunohistochemistry"},{"id":23323,"name":"Transcription Factors","url":"https://www.academia.edu/Documents/in/Transcription_Factors"},{"id":47884,"name":"Biological Sciences","url":"https://www.academia.edu/Documents/in/Biological_Sciences"},{"id":74780,"name":"Mutation","url":"https://www.academia.edu/Documents/in/Mutation"},{"id":212690,"name":"Non small cell carcinoma","url":"https://www.academia.edu/Documents/in/Non_small_cell_carcinoma"},{"id":809882,"name":"Base Sequence","url":"https://www.academia.edu/Documents/in/Base_Sequence"},{"id":1634669,"name":"Exome","url":"https://www.academia.edu/Documents/in/Exome"},{"id":2058817,"name":"Immunoblotting","url":"https://www.academia.edu/Documents/in/Immunoblotting"},{"id":2467566,"name":"Molecular Sequence Data","url":"https://www.academia.edu/Documents/in/Molecular_Sequence_Data"}],"urls":[]}, dispatcherData: dispatcherData }); $(this).data('initialized', true); } }); $a.trackClickSource(".js-work-strip-work-link", "profile_work_strip") }); </script> <div class="js-work-strip profile--work_container" data-work-id="12632507"><div class="profile--work_thumbnail hidden-xs"><a class="js-work-strip-work-link" data-click-track="profile-work-strip-thumbnail" href="https://www.academia.edu/12632507/Familial_rhabdoid_tumour_avant_la_lettre_from_pathology_review_to_exome_sequencing_and_back_again"><img alt="Research paper thumbnail of Familial rhabdoid tumour ' avant la lettre '-from pathology review to exome sequencing and back again" class="work-thumbnail" src="https://attachments.academia-assets.com/46037462/thumbnails/1.jpg" /></a></div><div class="wp-workCard wp-workCard_itemContainer"><div class="wp-workCard_item wp-workCard--title"><a class="js-work-strip-work-link text-gray-darker" data-click-track="profile-work-strip-title" href="https://www.academia.edu/12632507/Familial_rhabdoid_tumour_avant_la_lettre_from_pathology_review_to_exome_sequencing_and_back_again">Familial rhabdoid tumour ' avant la lettre '-from pathology review to exome sequencing and back again</a></div><div class="wp-workCard_item"><span>The Journal of Pathology</span><span>, 2013</span></div><div class="wp-workCard_item wp-workCard--actions"><span class="work-strip-bookmark-button-container"></span><a id="8dc4b6dec721e3dceab29ca346d39e5e" class="wp-workCard--action" rel="nofollow" data-click-track="profile-work-strip-download" data-download="{"attachment_id":46037462,"asset_id":12632507,"asset_type":"Work","button_location":"profile"}" href="https://www.academia.edu/attachments/46037462/download_file?st=MTczMjk5MzEwOCw4LjIyMi4yMDguMTQ2&s=profile"><span><i class="fa fa-arrow-down"></i></span><span>Download</span></a><span class="wp-workCard--action visible-if-viewed-by-owner inline-block" style="display: none;"><span class="js-profile-work-strip-edit-button-wrapper profile-work-strip-edit-button-wrapper" data-work-id="12632507"><a class="js-profile-work-strip-edit-button" tabindex="0"><span><i class="fa fa-pencil"></i></span><span>Edit</span></a></span></span><span id="work-strip-rankings-button-container"></span></div><div class="wp-workCard_item wp-workCard--stats"><span><span><span class="js-view-count view-count u-mr2x" data-work-id="12632507"><i class="fa fa-spinner fa-spin"></i></span><script>$(function () { var workId = 12632507; 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dispatcherData = { dispatcher: window.WowProfile.dispatcher, downloadLinkId: "8dc4b6dec721e3dceab29ca346d39e5e" } } $('.js-work-strip[data-work-id=12632507]').each(function() { if (!$(this).data('initialized')) { new WowProfile.WorkStripView({ el: this, workJSON: {"id":12632507,"title":"Familial rhabdoid tumour ' avant la lettre '-from pathology review to exome sequencing and back again","translated_title":"","metadata":{"grobid_abstract":"Here we provide compelling evidence that next-generation sequencing will revolutionize diagnostics. We reappraised a case from 1991, published in 1993, describing the unique occurrence of an ovarian immature teratoma arising in a young woman and a clonally distinct intracerebral immature teratoma developing in her daughter. We conducted whole-exome sequencing on constitutional DNA from the mother and her daughter and identified a previously unreported nonsense mutation (c.3533G\u003eA; p.Trp1178 * ) in the chromatin remodelling gene, SMARCA4, that was present in both individuals and was subject to nonsense-mediated decay. Tumour analysis by Sanger sequencing revealed a somatic SMARCA4 mutation in both the mother (c.2438+1G\u003eT) and her daughter (c.3229C\u003eT; p.Arg1077 * ), which are predicted to be truncating. As immature teratomas are classified as germ cell tumours, we performed a comprehensive mutation survey of 106 apparently sporadic germ cell tumours, but did not find any other clearly deleterious SMARCA4 mutations. Recently, inactivating mutations in SMARCA4 have been found in two cases of rhabdoid tumour predisposition syndrome type 2. In the light of these findings, renewed efforts to locate previously unobtainable tumour samples were successfully undertaken. Histopathological and immunohistochemical re-analysis of the daughter's tumour revealed that it was indeed a rhabdoid tumour (atypical teratoid/rhabdoid tumour). In this context, the original pathology report of the mother's ovarian tumour was re-interpreted as describing a malignant rhabdoid tumour of the ovary. This report raises the question as to whether molecular genetic analysis should be included in tumour classification, alongside more traditional microscopy-based methods. The use of new sequencing technologies, particularly when applied to archived samples, will lead to many more 'molecular rediagnoses'. This is the earliest known case of rhabdoid tumour predisposition syndrome type 2 and the first described case with an autosomal dominant pattern of inheritance, only discovered through an exome sequencing project.","publication_date":{"day":null,"month":null,"year":2013,"errors":{}},"publication_name":"The Journal of Pathology","grobid_abstract_attachment_id":46037462},"translated_abstract":null,"internal_url":"https://www.academia.edu/12632507/Familial_rhabdoid_tumour_avant_la_lettre_from_pathology_review_to_exome_sequencing_and_back_again","translated_internal_url":"","created_at":"2015-05-27T09:37:34.983-07:00","preview_url":null,"current_user_can_edit":null,"current_user_is_owner":null,"owner_id":31600762,"coauthors_can_edit":true,"document_type":"paper","co_author_tags":[],"downloadable_attachments":[{"id":46037462,"title":"","file_type":"pdf","scribd_thumbnail_url":"https://attachments.academia-assets.com/46037462/thumbnails/1.jpg","file_name":"Familial_Rhabdoid_Tumour_Avant_La_Lettre20160529-19863-1rmsdp6.pdf","download_url":"https://www.academia.edu/attachments/46037462/download_file?st=MTczMjk5MzEwOCw4LjIyMi4yMDguMTQ2&","bulk_download_file_name":"Familial_rhabdoid_tumour_avant_la_lettre.pdf","bulk_download_url":"https://d1wqtxts1xzle7.cloudfront.net/46037462/Familial_Rhabdoid_Tumour_Avant_La_Lettre20160529-19863-1rmsdp6-libre.pdf?1464514405=\u0026response-content-disposition=attachment%3B+filename%3DFamilial_rhabdoid_tumour_avant_la_lettre.pdf\u0026Expires=1732996708\u0026Signature=PsIrKAHzQnBJOwgN27imP~19yZkuYKkeX-rGXmXjDE7lSYAj9u7PPWkYhhI~kBPDd2uVosPjFVrGLDz8sFbbRSffYA-VZQvXCTio07NU-QUT9vfbIQw1xExZUggFD~n5xIM~Op3eT~um~eoUSoxwNM54trxCjsA2oku1lJFPM2CAZ7jWWPxYPd-xzXubV3LGtTtQjkEQ6Nzv4TfxOB4q~flBT6ES9HxKgpJEYsstNvkrIhgw~pT1kAgHvs6op2jepSfhnF3lethRREKzrkA-6FhC~zbnSJZVhtpXZjUPzyMWla-yjYbESV9n5VZML~pb31mVC4Bco4iCUBHaw08myg__\u0026Key-Pair-Id=APKAJLOHF5GGSLRBV4ZA"}],"slug":"Familial_rhabdoid_tumour_avant_la_lettre_from_pathology_review_to_exome_sequencing_and_back_again","translated_slug":"","page_count":9,"language":"en","content_type":"Work","owner":{"id":31600762,"first_name":"Nancy","middle_initials":null,"last_name":"Hamel","page_name":"NancyHamel","domain_name":"independent","created_at":"2015-05-27T09:36:34.282-07:00","display_name":"Nancy Hamel","url":"https://independent.academia.edu/NancyHamel"},"attachments":[{"id":46037462,"title":"","file_type":"pdf","scribd_thumbnail_url":"https://attachments.academia-assets.com/46037462/thumbnails/1.jpg","file_name":"Familial_Rhabdoid_Tumour_Avant_La_Lettre20160529-19863-1rmsdp6.pdf","download_url":"https://www.academia.edu/attachments/46037462/download_file?st=MTczMjk5MzEwOCw4LjIyMi4yMDguMTQ2&","bulk_download_file_name":"Familial_rhabdoid_tumour_avant_la_lettre.pdf","bulk_download_url":"https://d1wqtxts1xzle7.cloudfront.net/46037462/Familial_Rhabdoid_Tumour_Avant_La_Lettre20160529-19863-1rmsdp6-libre.pdf?1464514405=\u0026response-content-disposition=attachment%3B+filename%3DFamilial_rhabdoid_tumour_avant_la_lettre.pdf\u0026Expires=1732996708\u0026Signature=PsIrKAHzQnBJOwgN27imP~19yZkuYKkeX-rGXmXjDE7lSYAj9u7PPWkYhhI~kBPDd2uVosPjFVrGLDz8sFbbRSffYA-VZQvXCTio07NU-QUT9vfbIQw1xExZUggFD~n5xIM~Op3eT~um~eoUSoxwNM54trxCjsA2oku1lJFPM2CAZ7jWWPxYPd-xzXubV3LGtTtQjkEQ6Nzv4TfxOB4q~flBT6ES9HxKgpJEYsstNvkrIhgw~pT1kAgHvs6op2jepSfhnF3lethRREKzrkA-6FhC~zbnSJZVhtpXZjUPzyMWla-yjYbESV9n5VZML~pb31mVC4Bco4iCUBHaw08myg__\u0026Key-Pair-Id=APKAJLOHF5GGSLRBV4ZA"}],"research_interests":[{"id":23323,"name":"Transcription Factors","url":"https://www.academia.edu/Documents/in/Transcription_Factors"},{"id":74780,"name":"Mutation","url":"https://www.academia.edu/Documents/in/Mutation"},{"id":188349,"name":"Pedigree","url":"https://www.academia.edu/Documents/in/Pedigree"},{"id":244814,"name":"Clinical Sciences","url":"https://www.academia.edu/Documents/in/Clinical_Sciences"},{"id":883404,"name":"Teratoma","url":"https://www.academia.edu/Documents/in/Teratoma"},{"id":1634669,"name":"Exome","url":"https://www.academia.edu/Documents/in/Exome"}],"urls":[]}, dispatcherData: dispatcherData }); $(this).data('initialized', true); } }); $a.trackClickSource(".js-work-strip-work-link", "profile_work_strip") }); </script> <div class="js-work-strip profile--work_container" data-work-id="12632506"><div class="profile--work_thumbnail hidden-xs"><a class="js-work-strip-work-link" data-click-track="profile-work-strip-thumbnail" rel="nofollow" href="https://www.academia.edu/12632506/Germline_DICER1_mutation_and_associated_loss_of_heterozygosity_in_a_pineoblastoma"><img alt="Research paper thumbnail of Germline DICER1 mutation and associated loss of heterozygosity in a pineoblastoma" class="work-thumbnail" src="https://a.academia-assets.com/images/blank-paper.jpg" /></a></div><div class="wp-workCard wp-workCard_itemContainer"><div class="wp-workCard_item wp-workCard--title"><a class="js-work-strip-work-link text-gray-darker" data-click-track="profile-work-strip-title" rel="nofollow" href="https://www.academia.edu/12632506/Germline_DICER1_mutation_and_associated_loss_of_heterozygosity_in_a_pineoblastoma">Germline DICER1 mutation and associated loss of heterozygosity in a pineoblastoma</a></div><div class="wp-workCard_item"><span>Journal of Medical Genetics</span><span>, 2012</span></div><div class="wp-workCard_item wp-workCard--actions"><span class="work-strip-bookmark-button-container"></span><span class="wp-workCard--action visible-if-viewed-by-owner inline-block" style="display: none;"><span class="js-profile-work-strip-edit-button-wrapper profile-work-strip-edit-button-wrapper" data-work-id="12632506"><a class="js-profile-work-strip-edit-button" tabindex="0"><span><i class="fa fa-pencil"></i></span><span>Edit</span></a></span></span><span id="work-strip-rankings-button-container"></span></div><div class="wp-workCard_item wp-workCard--stats"><span><span><span class="js-view-count view-count u-mr2x" data-work-id="12632506"><i class="fa fa-spinner fa-spin"></i></span><script>$(function () { var workId = 12632506; 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dispatcherData = { dispatcher: window.WowProfile.dispatcher, downloadLinkId: "-1" } } $('.js-work-strip[data-work-id=12632506]').each(function() { if (!$(this).data('initialized')) { new WowProfile.WorkStripView({ el: this, workJSON: {"id":12632506,"title":"Germline DICER1 mutation and associated loss of heterozygosity in a pineoblastoma","translated_title":"","metadata":{"publication_date":{"day":null,"month":null,"year":2012,"errors":{}},"publication_name":"Journal of Medical Genetics"},"translated_abstract":null,"internal_url":"https://www.academia.edu/12632506/Germline_DICER1_mutation_and_associated_loss_of_heterozygosity_in_a_pineoblastoma","translated_internal_url":"","created_at":"2015-05-27T09:37:34.900-07:00","preview_url":null,"current_user_can_edit":null,"current_user_is_owner":null,"owner_id":31600762,"coauthors_can_edit":true,"document_type":"paper","co_author_tags":[],"downloadable_attachments":[],"slug":"Germline_DICER1_mutation_and_associated_loss_of_heterozygosity_in_a_pineoblastoma","translated_slug":"","page_count":null,"language":"en","content_type":"Work","owner":{"id":31600762,"first_name":"Nancy","middle_initials":null,"last_name":"Hamel","page_name":"NancyHamel","domain_name":"independent","created_at":"2015-05-27T09:36:34.282-07:00","display_name":"Nancy Hamel","url":"https://independent.academia.edu/NancyHamel"},"attachments":[],"research_interests":[{"id":2568,"name":"Medical Genetics","url":"https://www.academia.edu/Documents/in/Medical_Genetics"},{"id":47884,"name":"Biological Sciences","url":"https://www.academia.edu/Documents/in/Biological_Sciences"},{"id":64933,"name":"Child","url":"https://www.academia.edu/Documents/in/Child"},{"id":372410,"name":"Genotype","url":"https://www.academia.edu/Documents/in/Genotype"},{"id":1471244,"name":"Hematoxylin","url":"https://www.academia.edu/Documents/in/Hematoxylin"}],"urls":[]}, dispatcherData: dispatcherData }); $(this).data('initialized', true); } }); $a.trackClickSource(".js-work-strip-work-link", "profile_work_strip") }); </script> <div class="js-work-strip profile--work_container" data-work-id="12632505"><div class="profile--work_thumbnail hidden-xs"><a class="js-work-strip-work-link" data-click-track="profile-work-strip-thumbnail" href="https://www.academia.edu/12632505/Germline_DICER1_mutations_and_familial_cystic_nephroma"><img alt="Research paper thumbnail of Germline DICER1 mutations and familial cystic nephroma" class="work-thumbnail" src="https://a.academia-assets.com/images/blank-paper.jpg" /></a></div><div class="wp-workCard wp-workCard_itemContainer"><div class="wp-workCard_item wp-workCard--title"><a class="js-work-strip-work-link text-gray-darker" data-click-track="profile-work-strip-title" href="https://www.academia.edu/12632505/Germline_DICER1_mutations_and_familial_cystic_nephroma">Germline DICER1 mutations and familial cystic nephroma</a></div><div class="wp-workCard_item"><span>Journal of Medical Genetics</span><span>, 2010</span></div><div class="wp-workCard_item"><span class="js-work-more-abstract-truncated">Multilocular cystic nephroma (CN) is a benign kidney tumour and is part of a family of kidney neo...</span><a class="js-work-more-abstract" data-broccoli-component="work_strip.more_abstract" data-click-track="profile-work-strip-more-abstract" href="javascript:;"><span> more </span><span><i class="fa fa-caret-down"></i></span></a><span class="js-work-more-abstract-untruncated hidden">Multilocular cystic nephroma (CN) is a benign kidney tumour and is part of a family of kidney neoplasms including cystic partially differentiated nephroblastoma and Wilms tumour (WT). CN is rarely familial or bilateral, but it occurs in about 10% of families where pleuropulmonary blastoma (PPB) is present. Recently, germline mutations in DICER1 were found in familial PPB. To search for DICER1 mutations in two families with familial CN; PPB was present in one family. Additionally, to test germline DNA from 50 children with sporadic WT for DICER1 mutations. Both families with multiple CN were found to have mutations in DICER1 leading to premature stop codons, predicted to result in loss of the ribonuclease and dsRNA binding domains. These domains are essential to the function of DICER1. No germline mutations were found in any of the 50 children who had developed WT. It has been established that DICER1 mutations cause familial CN and may be implicated in bilateral CN. No germline mutations were found in the patients with WT, suggesting that DICER1 mutations are unlikely to have a major role in the aetiology of sporadic WT. These results provide further evidence implicating miRNA dysregulation in tumourigenesis.</span></div><div class="wp-workCard_item wp-workCard--actions"><span class="work-strip-bookmark-button-container"></span><span class="wp-workCard--action visible-if-viewed-by-owner inline-block" style="display: none;"><span class="js-profile-work-strip-edit-button-wrapper profile-work-strip-edit-button-wrapper" data-work-id="12632505"><a class="js-profile-work-strip-edit-button" tabindex="0"><span><i class="fa fa-pencil"></i></span><span>Edit</span></a></span></span><span id="work-strip-rankings-button-container"></span></div><div class="wp-workCard_item wp-workCard--stats"><span><span><span class="js-view-count view-count u-mr2x" data-work-id="12632505"><i class="fa fa-spinner fa-spin"></i></span><script>$(function () { var workId = 12632505; window.Academia.workViewCountsFetcher.queue(workId, function (count) { var description = window.$h.commaizeInt(count) + " " + window.$h.pluralize(count, 'View'); $(".js-view-count[data-work-id=12632505]").text(description); $(".js-view-count[data-work-id=12632505]").attr('title', description).tooltip(); }); });</script></span></span><span><span class="percentile-widget hidden"><span class="u-mr2x work-percentile"></span></span><script>$(function () { var workId = 12632505; window.Academia.workPercentilesFetcher.queue(workId, function (percentileText) { var container = $(".js-work-strip[data-work-id='12632505']"); container.find('.work-percentile').text(percentileText.charAt(0).toUpperCase() + percentileText.slice(1)); container.find('.percentile-widget').show(); container.find('.percentile-widget').removeClass('hidden'); }); });</script></span><span><script>$(function() { new Works.PaperRankView({ workId: 12632505, container: "", }); });</script></span></div><div id="work-strip-premium-row-container"></div></div></div><script> require.config({ waitSeconds: 90 })(["https://a.academia-assets.com/assets/wow_profile-f77ea15d77ce96025a6048a514272ad8becbad23c641fc2b3bd6e24ca6ff1932.js","https://a.academia-assets.com/assets/work_edit-ad038b8c047c1a8d4fa01b402d530ff93c45fee2137a149a4a5398bc8ad67560.js"], function() { // from javascript_helper.rb var dispatcherData = {} if (false){ window.WowProfile.dispatcher = window.WowProfile.dispatcher || _.clone(Backbone.Events); dispatcherData = { dispatcher: window.WowProfile.dispatcher, downloadLinkId: "-1" } } $('.js-work-strip[data-work-id=12632505]').each(function() { if (!$(this).data('initialized')) { new WowProfile.WorkStripView({ el: this, workJSON: {"id":12632505,"title":"Germline DICER1 mutations and familial cystic nephroma","translated_title":"","metadata":{"abstract":"Multilocular cystic nephroma (CN) is a benign kidney tumour and is part of a family of kidney neoplasms including cystic partially differentiated nephroblastoma and Wilms tumour (WT). CN is rarely familial or bilateral, but it occurs in about 10% of families where pleuropulmonary blastoma (PPB) is present. Recently, germline mutations in DICER1 were found in familial PPB. To search for DICER1 mutations in two families with familial CN; PPB was present in one family. Additionally, to test germline DNA from 50 children with sporadic WT for DICER1 mutations. Both families with multiple CN were found to have mutations in DICER1 leading to premature stop codons, predicted to result in loss of the ribonuclease and dsRNA binding domains. These domains are essential to the function of DICER1. No germline mutations were found in any of the 50 children who had developed WT. It has been established that DICER1 mutations cause familial CN and may be implicated in bilateral CN. No germline mutations were found in the patients with WT, suggesting that DICER1 mutations are unlikely to have a major role in the aetiology of sporadic WT. These results provide further evidence implicating miRNA dysregulation in tumourigenesis.","publication_date":{"day":null,"month":null,"year":2010,"errors":{}},"publication_name":"Journal of Medical Genetics"},"translated_abstract":"Multilocular cystic nephroma (CN) is a benign kidney tumour and is part of a family of kidney neoplasms including cystic partially differentiated nephroblastoma and Wilms tumour (WT). CN is rarely familial or bilateral, but it occurs in about 10% of families where pleuropulmonary blastoma (PPB) is present. Recently, germline mutations in DICER1 were found in familial PPB. To search for DICER1 mutations in two families with familial CN; PPB was present in one family. Additionally, to test germline DNA from 50 children with sporadic WT for DICER1 mutations. Both families with multiple CN were found to have mutations in DICER1 leading to premature stop codons, predicted to result in loss of the ribonuclease and dsRNA binding domains. These domains are essential to the function of DICER1. No germline mutations were found in any of the 50 children who had developed WT. It has been established that DICER1 mutations cause familial CN and may be implicated in bilateral CN. No germline mutations were found in the patients with WT, suggesting that DICER1 mutations are unlikely to have a major role in the aetiology of sporadic WT. These results provide further evidence implicating miRNA dysregulation in tumourigenesis.","internal_url":"https://www.academia.edu/12632505/Germline_DICER1_mutations_and_familial_cystic_nephroma","translated_internal_url":"","created_at":"2015-05-27T09:37:34.799-07:00","preview_url":null,"current_user_can_edit":null,"current_user_is_owner":null,"owner_id":31600762,"coauthors_can_edit":true,"document_type":"paper","co_author_tags":[],"downloadable_attachments":[],"slug":"Germline_DICER1_mutations_and_familial_cystic_nephroma","translated_slug":"","page_count":null,"language":"en","content_type":"Work","owner":{"id":31600762,"first_name":"Nancy","middle_initials":null,"last_name":"Hamel","page_name":"NancyHamel","domain_name":"independent","created_at":"2015-05-27T09:36:34.282-07:00","display_name":"Nancy Hamel","url":"https://independent.academia.edu/NancyHamel"},"attachments":[],"research_interests":[{"id":156,"name":"Genetics","url":"https://www.academia.edu/Documents/in/Genetics"},{"id":2568,"name":"Medical Genetics","url":"https://www.academia.edu/Documents/in/Medical_Genetics"},{"id":6574,"name":"Family","url":"https://www.academia.edu/Documents/in/Family"},{"id":22506,"name":"Adolescent","url":"https://www.academia.edu/Documents/in/Adolescent"},{"id":47884,"name":"Biological Sciences","url":"https://www.academia.edu/Documents/in/Biological_Sciences"},{"id":64933,"name":"Child","url":"https://www.academia.edu/Documents/in/Child"},{"id":74780,"name":"Mutation","url":"https://www.academia.edu/Documents/in/Mutation"},{"id":133057,"name":"Young Adult","url":"https://www.academia.edu/Documents/in/Young_Adult"},{"id":134346,"name":"Infant","url":"https://www.academia.edu/Documents/in/Infant"},{"id":188349,"name":"Pedigree","url":"https://www.academia.edu/Documents/in/Pedigree"},{"id":809882,"name":"Base Sequence","url":"https://www.academia.edu/Documents/in/Base_Sequence"},{"id":2036633,"name":"Medical","url":"https://www.academia.edu/Documents/in/Medical"},{"id":2467566,"name":"Molecular Sequence Data","url":"https://www.academia.edu/Documents/in/Molecular_Sequence_Data"}],"urls":[]}, dispatcherData: dispatcherData }); $(this).data('initialized', true); } }); $a.trackClickSource(".js-work-strip-work-link", "profile_work_strip") }); </script> <div class="js-work-strip profile--work_container" data-work-id="12632504"><div class="profile--work_thumbnail hidden-xs"><a class="js-work-strip-work-link" data-click-track="profile-work-strip-thumbnail" href="https://www.academia.edu/12632504/Mixed_Ovarian_Germ_Cell_Tumor_in_a_BRCA2_Mutation_Carrier"><img alt="Research paper thumbnail of Mixed Ovarian Germ Cell Tumor in a BRCA2 Mutation Carrier" class="work-thumbnail" src="https://a.academia-assets.com/images/blank-paper.jpg" /></a></div><div class="wp-workCard wp-workCard_itemContainer"><div class="wp-workCard_item wp-workCard--title"><a class="js-work-strip-work-link text-gray-darker" data-click-track="profile-work-strip-title" href="https://www.academia.edu/12632504/Mixed_Ovarian_Germ_Cell_Tumor_in_a_BRCA2_Mutation_Carrier">Mixed Ovarian Germ Cell Tumor in a BRCA2 Mutation Carrier</a></div><div class="wp-workCard_item"><span>International Journal of Gynecological Pathology</span><span>, 2007</span></div><div class="wp-workCard_item"><span class="js-work-more-abstract-truncated">BRCA2 germ-line mutations confer an increased risk of developing breast and ovarian cancer. We re...</span><a class="js-work-more-abstract" data-broccoli-component="work_strip.more_abstract" data-click-track="profile-work-strip-more-abstract" href="javascript:;"><span> more </span><span><i class="fa fa-caret-down"></i></span></a><span class="js-work-more-abstract-untruncated hidden">BRCA2 germ-line mutations confer an increased risk of developing breast and ovarian cancer. We report the occurrence of a mixed ovarian germ cell tumor (GCT) (50% embryonal carcinoma, 20%-25% choriocarcinoma, 10%-15% dysgerminoma, and 10%-15% immature teratoma) in a 33-year-old Ashkenazi Jewish woman, carrier of the BRCA2:6174delT mutation. The mutation is also present in the patient&amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;#39;s father, who was diagnosed with breast cancer at age 59 and with prostate cancer at age 69. This is the first report of a GCT in a BRCA2 mutation carrier; there was one previous report of an ovarian dysgerminoma in a BRCA1 carrier. Molecular analysis of the proband&amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;#39;s tumor DNA revealed there was no loss of heterozygosity of the wild-type allele in the tumor, as is usually the case for epithelial BRCA-related ovarian tumors. This suggests either that biallelic inactivation of BRCA2 is not required for GCT development or that this is a chance event unrelated to the presence of the mutation.</span></div><div class="wp-workCard_item wp-workCard--actions"><span class="work-strip-bookmark-button-container"></span><span class="wp-workCard--action visible-if-viewed-by-owner inline-block" style="display: none;"><span class="js-profile-work-strip-edit-button-wrapper profile-work-strip-edit-button-wrapper" data-work-id="12632504"><a class="js-profile-work-strip-edit-button" tabindex="0"><span><i class="fa fa-pencil"></i></span><span>Edit</span></a></span></span><span id="work-strip-rankings-button-container"></span></div><div class="wp-workCard_item wp-workCard--stats"><span><span><span class="js-view-count view-count u-mr2x" data-work-id="12632504"><i class="fa fa-spinner fa-spin"></i></span><script>$(function () { var workId = 12632504; window.Academia.workViewCountsFetcher.queue(workId, function (count) { var description = window.$h.commaizeInt(count) + " " + window.$h.pluralize(count, 'View'); $(".js-view-count[data-work-id=12632504]").text(description); $(".js-view-count[data-work-id=12632504]").attr('title', description).tooltip(); }); });</script></span></span><span><span class="percentile-widget hidden"><span class="u-mr2x work-percentile"></span></span><script>$(function () { var workId = 12632504; window.Academia.workPercentilesFetcher.queue(workId, function (percentileText) { var container = $(".js-work-strip[data-work-id='12632504']"); container.find('.work-percentile').text(percentileText.charAt(0).toUpperCase() + percentileText.slice(1)); container.find('.percentile-widget').show(); container.find('.percentile-widget').removeClass('hidden'); }); });</script></span><span><script>$(function() { new Works.PaperRankView({ workId: 12632504, container: "", }); });</script></span></div><div id="work-strip-premium-row-container"></div></div></div><script> require.config({ waitSeconds: 90 })(["https://a.academia-assets.com/assets/wow_profile-f77ea15d77ce96025a6048a514272ad8becbad23c641fc2b3bd6e24ca6ff1932.js","https://a.academia-assets.com/assets/work_edit-ad038b8c047c1a8d4fa01b402d530ff93c45fee2137a149a4a5398bc8ad67560.js"], function() { // from javascript_helper.rb var dispatcherData = {} if (false){ window.WowProfile.dispatcher = window.WowProfile.dispatcher || _.clone(Backbone.Events); dispatcherData = { dispatcher: window.WowProfile.dispatcher, downloadLinkId: "-1" } } $('.js-work-strip[data-work-id=12632504]').each(function() { if (!$(this).data('initialized')) { new WowProfile.WorkStripView({ el: this, workJSON: {"id":12632504,"title":"Mixed Ovarian Germ Cell Tumor in a BRCA2 Mutation Carrier","translated_title":"","metadata":{"abstract":"BRCA2 germ-line mutations confer an increased risk of developing breast and ovarian cancer. We report the occurrence of a mixed ovarian germ cell tumor (GCT) (50% embryonal carcinoma, 20%-25% choriocarcinoma, 10%-15% dysgerminoma, and 10%-15% immature teratoma) in a 33-year-old Ashkenazi Jewish woman, carrier of the BRCA2:6174delT mutation. The mutation is also present in the patient\u0026amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;#39;s father, who was diagnosed with breast cancer at age 59 and with prostate cancer at age 69. This is the first report of a GCT in a BRCA2 mutation carrier; there was one previous report of an ovarian dysgerminoma in a BRCA1 carrier. Molecular analysis of the proband\u0026amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;#39;s tumor DNA revealed there was no loss of heterozygosity of the wild-type allele in the tumor, as is usually the case for epithelial BRCA-related ovarian tumors. This suggests either that biallelic inactivation of BRCA2 is not required for GCT development or that this is a chance event unrelated to the presence of the mutation.","publication_date":{"day":null,"month":null,"year":2007,"errors":{}},"publication_name":"International Journal of Gynecological Pathology"},"translated_abstract":"BRCA2 germ-line mutations confer an increased risk of developing breast and ovarian cancer. We report the occurrence of a mixed ovarian germ cell tumor (GCT) (50% embryonal carcinoma, 20%-25% choriocarcinoma, 10%-15% dysgerminoma, and 10%-15% immature teratoma) in a 33-year-old Ashkenazi Jewish woman, carrier of the BRCA2:6174delT mutation. The mutation is also present in the patient\u0026amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;#39;s father, who was diagnosed with breast cancer at age 59 and with prostate cancer at age 69. This is the first report of a GCT in a BRCA2 mutation carrier; there was one previous report of an ovarian dysgerminoma in a BRCA1 carrier. Molecular analysis of the proband\u0026amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;#39;s tumor DNA revealed there was no loss of heterozygosity of the wild-type allele in the tumor, as is usually the case for epithelial BRCA-related ovarian tumors. This suggests either that biallelic inactivation of BRCA2 is not required for GCT development or that this is a chance event unrelated to the presence of the mutation.","internal_url":"https://www.academia.edu/12632504/Mixed_Ovarian_Germ_Cell_Tumor_in_a_BRCA2_Mutation_Carrier","translated_internal_url":"","created_at":"2015-05-27T09:37:34.684-07:00","preview_url":null,"current_user_can_edit":null,"current_user_is_owner":null,"owner_id":31600762,"coauthors_can_edit":true,"document_type":"paper","co_author_tags":[],"downloadable_attachments":[],"slug":"Mixed_Ovarian_Germ_Cell_Tumor_in_a_BRCA2_Mutation_Carrier","translated_slug":"","page_count":null,"language":"en","content_type":"Work","owner":{"id":31600762,"first_name":"Nancy","middle_initials":null,"last_name":"Hamel","page_name":"NancyHamel","domain_name":"independent","created_at":"2015-05-27T09:36:34.282-07:00","display_name":"Nancy Hamel","url":"https://independent.academia.edu/NancyHamel"},"attachments":[],"research_interests":[{"id":156,"name":"Genetics","url":"https://www.academia.edu/Documents/in/Genetics"},{"id":74780,"name":"Mutation","url":"https://www.academia.edu/Documents/in/Mutation"},{"id":121508,"name":"Jews","url":"https://www.academia.edu/Documents/in/Jews"},{"id":188349,"name":"Pedigree","url":"https://www.academia.edu/Documents/in/Pedigree"},{"id":339107,"name":"Gynecology","url":"https://www.academia.edu/Documents/in/Gynecology"},{"id":883404,"name":"Teratoma","url":"https://www.academia.edu/Documents/in/Teratoma"}],"urls":[]}, dispatcherData: dispatcherData }); $(this).data('initialized', true); } }); $a.trackClickSource(".js-work-strip-work-link", "profile_work_strip") }); </script> <div class="js-work-strip profile--work_container" data-work-id="12632503"><div class="profile--work_thumbnail hidden-xs"><a class="js-work-strip-work-link" data-click-track="profile-work-strip-thumbnail" href="https://www.academia.edu/12632503/Increased_risk_of_head_and_neck_cancer_in_association_withGSTT1_nullizygosity_for_individuals_with_low_exposure_to_tobacco"><img alt="Research paper thumbnail of Increased risk of head and neck cancer in association withGSTT1 nullizygosity for individuals with low exposure to tobacco" class="work-thumbnail" src="https://attachments.academia-assets.com/46037448/thumbnails/1.jpg" /></a></div><div class="wp-workCard wp-workCard_itemContainer"><div class="wp-workCard_item wp-workCard--title"><a class="js-work-strip-work-link text-gray-darker" data-click-track="profile-work-strip-title" href="https://www.academia.edu/12632503/Increased_risk_of_head_and_neck_cancer_in_association_withGSTT1_nullizygosity_for_individuals_with_low_exposure_to_tobacco">Increased risk of head and neck cancer in association withGSTT1 nullizygosity for individuals with low exposure to tobacco</a></div><div class="wp-workCard_item"><span>International Journal of Cancer</span><span>, 2000</span></div><div class="wp-workCard_item wp-workCard--actions"><span class="work-strip-bookmark-button-container"></span><a id="1513315ffe2cf3643502747dbdeeeda7" class="wp-workCard--action" rel="nofollow" data-click-track="profile-work-strip-download" data-download="{"attachment_id":46037448,"asset_id":12632503,"asset_type":"Work","button_location":"profile"}" href="https://www.academia.edu/attachments/46037448/download_file?st=MTczMjk5MzEwOCw4LjIyMi4yMDguMTQ2&s=profile"><span><i class="fa fa-arrow-down"></i></span><span>Download</span></a><span class="wp-workCard--action visible-if-viewed-by-owner inline-block" style="display: none;"><span class="js-profile-work-strip-edit-button-wrapper profile-work-strip-edit-button-wrapper" data-work-id="12632503"><a class="js-profile-work-strip-edit-button" tabindex="0"><span><i class="fa fa-pencil"></i></span><span>Edit</span></a></span></span><span id="work-strip-rankings-button-container"></span></div><div class="wp-workCard_item wp-workCard--stats"><span><span><span class="js-view-count view-count u-mr2x" data-work-id="12632503"><i class="fa fa-spinner fa-spin"></i></span><script>$(function () { var workId = 12632503; window.Academia.workViewCountsFetcher.queue(workId, function (count) { var description = window.$h.commaizeInt(count) + " " + window.$h.pluralize(count, 'View'); $(".js-view-count[data-work-id=12632503]").text(description); $(".js-view-count[data-work-id=12632503]").attr('title', description).tooltip(); }); });</script></span></span><span><span class="percentile-widget hidden"><span class="u-mr2x work-percentile"></span></span><script>$(function () { var workId = 12632503; window.Academia.workPercentilesFetcher.queue(workId, function (percentileText) { var container = $(".js-work-strip[data-work-id='12632503']"); container.find('.work-percentile').text(percentileText.charAt(0).toUpperCase() + percentileText.slice(1)); container.find('.percentile-widget').show(); container.find('.percentile-widget').removeClass('hidden'); }); });</script></span><span><script>$(function() { new Works.PaperRankView({ workId: 12632503, container: "", }); });</script></span></div><div id="work-strip-premium-row-container"></div></div></div><script> require.config({ waitSeconds: 90 })(["https://a.academia-assets.com/assets/wow_profile-f77ea15d77ce96025a6048a514272ad8becbad23c641fc2b3bd6e24ca6ff1932.js","https://a.academia-assets.com/assets/work_edit-ad038b8c047c1a8d4fa01b402d530ff93c45fee2137a149a4a5398bc8ad67560.js"], function() { // from javascript_helper.rb var dispatcherData = {} if (true){ window.WowProfile.dispatcher = window.WowProfile.dispatcher || _.clone(Backbone.Events); 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However, recent case-control studies indicate that SCCHN is also associated with a family history of this cancer . In addition, second primary tumors, which are often a hallmark of inherited susceptibility to cancer, occur in up to 30% of patients with SCCHN (Day and Blot, 1992;. 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$(this).data('initialized', true); } }); $a.trackClickSource(".js-work-strip-work-link", "profile_work_strip") }); </script> <div class="js-work-strip profile--work_container" data-work-id="12525762"><div class="profile--work_thumbnail hidden-xs"><a class="js-work-strip-work-link" data-click-track="profile-work-strip-thumbnail" href="https://www.academia.edu/12525762/Functional_redundancy_of_exon_12_of_BRCA2_revealed_by_a_comprehensive_analysis_of_the_c_6853A_G_p_I2285V_variant"><img alt="Research paper thumbnail of Functional redundancy of exon 12 of BRCA2 revealed by a comprehensive analysis of the c.6853A>G (p.I2285V) variant" class="work-thumbnail" src="https://attachments.academia-assets.com/46115797/thumbnails/1.jpg" /></a></div><div class="wp-workCard wp-workCard_itemContainer"><div class="wp-workCard_item wp-workCard--title"><a class="js-work-strip-work-link text-gray-darker" data-click-track="profile-work-strip-title" href="https://www.academia.edu/12525762/Functional_redundancy_of_exon_12_of_BRCA2_revealed_by_a_comprehensive_analysis_of_the_c_6853A_G_p_I2285V_variant">Functional redundancy of exon 12 of BRCA2 revealed by a comprehensive analysis of the c.6853A>G (p.I2285V) variant</a></div><div class="wp-workCard_item wp-workCard--coauthors"><span>by </span><span><a class="" data-click-track="profile-work-strip-authors" href="https://mcgill.academia.edu/GeorgeChong">George Chong</a> and <a class="" data-click-track="profile-work-strip-authors" href="https://independent.academia.edu/NancyHamel">Nancy Hamel</a></span></div><div class="wp-workCard_item"><span>Human Mutation</span><span>, 2009</span></div><div class="wp-workCard_item wp-workCard--actions"><span class="work-strip-bookmark-button-container"></span><a id="85c75def12970f3b827845f905467b52" class="wp-workCard--action" rel="nofollow" data-click-track="profile-work-strip-download" data-download="{"attachment_id":46115797,"asset_id":12525762,"asset_type":"Work","button_location":"profile"}" href="https://www.academia.edu/attachments/46115797/download_file?st=MTczMjk5MzEwOCw4LjIyMi4yMDguMTQ2&s=profile"><span><i class="fa fa-arrow-down"></i></span><span>Download</span></a><span class="wp-workCard--action visible-if-viewed-by-owner inline-block" style="display: none;"><span class="js-profile-work-strip-edit-button-wrapper profile-work-strip-edit-button-wrapper" data-work-id="12525762"><a class="js-profile-work-strip-edit-button" tabindex="0"><span><i class="fa fa-pencil"></i></span><span>Edit</span></a></span></span><span id="work-strip-rankings-button-container"></span></div><div class="wp-workCard_item wp-workCard--stats"><span><span><span class="js-view-count view-count u-mr2x" data-work-id="12525762"><i class="fa fa-spinner fa-spin"></i></span><script>$(function () { var workId = 12525762; 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dispatcherData = { dispatcher: window.WowProfile.dispatcher, downloadLinkId: "85c75def12970f3b827845f905467b52" } } $('.js-work-strip[data-work-id=12525762]').each(function() { if (!$(this).data('initialized')) { new WowProfile.WorkStripView({ el: this, workJSON: {"id":12525762,"title":"Functional redundancy of exon 12 of BRCA2 revealed by a comprehensive analysis of the c.6853A\u003eG (p.I2285V) variant","translated_title":"","metadata":{"grobid_abstract":"Variants of Unknown Significance (VUS) in BRCA1 and BRCA2 are common, and present significant challenges for genetic counseling. We observed that BRCA2: c.6853A\u003eG (p.I2285V) (Brest cancer Information Core [BIC] name: 7081A\u003eG; http://nhgri.nih.gov/bic/) co-occurs in trans with the founder mutation c.5946delT (p.S1982RfsX22) (BIC name: 6174delT), supporting the published classification of p.I2285V as a neutral variant. However, we also noted that when compared with wild-type BRCA2, p.I2285V resulted in increased exclusion of exon 12. Functional assay using allelic complementation in Brca2-null mouse embryonic stem cells revealed that p.I2285V, an allele with exon 12 deleted and wild-type BRCA2 were all phenotypically indistinguishable, as measured by sensitivity to DNA-damaging agents, effect on irradiation-induced Rad51 foci formation, homologous recombination and overall genomic integrity. An allele frequency study showed the p.I2285V variant was identified in 15/722 (2.1%) Ashkenazi Jewish cases and 10/475 (2.1%) ethnically-matched controls, odds ratio: 0.99 (95% confidence interval: 0.44-2.21), P = 0.97. Thus the p.I2285V variant is not associated with an increased risk for breast cancer. Taken together, our clinical and functional studies strongly suggest that exon 12 is functionally redundant and therefore missense variants in this exon are likely to be neutral. Such comprehensive functional studies will be important adjuncts to genetic studies of variants.","publication_date":{"day":null,"month":null,"year":2009,"errors":{}},"publication_name":"Human Mutation","grobid_abstract_attachment_id":46115797},"translated_abstract":null,"internal_url":"https://www.academia.edu/12525762/Functional_redundancy_of_exon_12_of_BRCA2_revealed_by_a_comprehensive_analysis_of_the_c_6853A_G_p_I2285V_variant","translated_internal_url":"","created_at":"2015-05-22T06:17:34.953-07:00","preview_url":null,"current_user_can_edit":null,"current_user_is_owner":null,"owner_id":31414531,"coauthors_can_edit":true,"document_type":"paper","co_author_tags":[{"id":605592,"work_id":12525762,"tagging_user_id":31414531,"tagged_user_id":31600762,"co_author_invite_id":231411,"email":"n***l@mail.mcgill.ca","display_order":null,"name":"Nancy Hamel","title":"Functional redundancy of exon 12 of BRCA2 revealed by a comprehensive analysis of the c.6853A\u003eG (p.I2285V) variant"}],"downloadable_attachments":[{"id":46115797,"title":"","file_type":"pdf","scribd_thumbnail_url":"https://attachments.academia-assets.com/46115797/thumbnails/1.jpg","file_name":"Functional_redundancy_of_exon_12_of_BRCA20160531-8904-adqu7g.pdf","download_url":"https://www.academia.edu/attachments/46115797/download_file?st=MTczMjk5MzEwOCw4LjIyMi4yMDguMTQ2&","bulk_download_file_name":"Functional_redundancy_of_exon_12_of_BRCA.pdf","bulk_download_url":"https://d1wqtxts1xzle7.cloudfront.net/46115797/Functional_redundancy_of_exon_12_of_BRCA20160531-8904-adqu7g-libre.pdf?1464747169=\u0026response-content-disposition=attachment%3B+filename%3DFunctional_redundancy_of_exon_12_of_BRCA.pdf\u0026Expires=1732996708\u0026Signature=ZtKIYx~KTOtjI33mQEG59Gn1t6vQLF0dj86dUcAe~1WA5hoUsE-y5JlvQN7tENdOXFvcZsl0hxHEsZmshfklq~8owzE4Uw9TGcXuA7IRX17O8PErWgfY6jHRJIAiRe1ec361smSO4N24naa1KtHp7wlBDWJ1hGXlH5KfaYxCqsmP9rvwuv-i9zwbKLJLkogoiIyjUxNQzgjswn9Ro0djF79nPSfkTB3IRCcrTLeJePczBQjq9Qq4qtVjO5vF9tVISgfuSQDSd7lkSDBq1vg7-65gTThMls7PoHvH9L1JuQgwifPIhetFRbHQNWYyW50RmS2Jl8Em3VZP6-Jz7hoRjg__\u0026Key-Pair-Id=APKAJLOHF5GGSLRBV4ZA"}],"slug":"Functional_redundancy_of_exon_12_of_BRCA2_revealed_by_a_comprehensive_analysis_of_the_c_6853A_G_p_I2285V_variant","translated_slug":"","page_count":15,"language":"en","content_type":"Work","owner":{"id":31414531,"first_name":"George","middle_initials":null,"last_name":"Chong","page_name":"GeorgeChong","domain_name":"mcgill","created_at":"2015-05-22T06:13:45.610-07:00","display_name":"George Chong","url":"https://mcgill.academia.edu/GeorgeChong"},"attachments":[{"id":46115797,"title":"","file_type":"pdf","scribd_thumbnail_url":"https://attachments.academia-assets.com/46115797/thumbnails/1.jpg","file_name":"Functional_redundancy_of_exon_12_of_BRCA20160531-8904-adqu7g.pdf","download_url":"https://www.academia.edu/attachments/46115797/download_file?st=MTczMjk5MzEwOCw4LjIyMi4yMDguMTQ2&","bulk_download_file_name":"Functional_redundancy_of_exon_12_of_BRCA.pdf","bulk_download_url":"https://d1wqtxts1xzle7.cloudfront.net/46115797/Functional_redundancy_of_exon_12_of_BRCA20160531-8904-adqu7g-libre.pdf?1464747169=\u0026response-content-disposition=attachment%3B+filename%3DFunctional_redundancy_of_exon_12_of_BRCA.pdf\u0026Expires=1732996708\u0026Signature=ZtKIYx~KTOtjI33mQEG59Gn1t6vQLF0dj86dUcAe~1WA5hoUsE-y5JlvQN7tENdOXFvcZsl0hxHEsZmshfklq~8owzE4Uw9TGcXuA7IRX17O8PErWgfY6jHRJIAiRe1ec361smSO4N24naa1KtHp7wlBDWJ1hGXlH5KfaYxCqsmP9rvwuv-i9zwbKLJLkogoiIyjUxNQzgjswn9Ro0djF79nPSfkTB3IRCcrTLeJePczBQjq9Qq4qtVjO5vF9tVISgfuSQDSd7lkSDBq1vg7-65gTThMls7PoHvH9L1JuQgwifPIhetFRbHQNWYyW50RmS2Jl8Em3VZP6-Jz7hoRjg__\u0026Key-Pair-Id=APKAJLOHF5GGSLRBV4ZA"}],"research_interests":[{"id":156,"name":"Genetics","url":"https://www.academia.edu/Documents/in/Genetics"},{"id":41720,"name":"Human","url":"https://www.academia.edu/Documents/in/Human"},{"id":84760,"name":"Mice","url":"https://www.academia.edu/Documents/in/Mice"},{"id":244814,"name":"Clinical Sciences","url":"https://www.academia.edu/Documents/in/Clinical_Sciences"},{"id":577933,"name":"Genetic variation","url":"https://www.academia.edu/Documents/in/Genetic_variation"}],"urls":[]}, dispatcherData: dispatcherData }); $(this).data('initialized', true); } }); $a.trackClickSource(".js-work-strip-work-link", "profile_work_strip") }); </script> <div class="js-work-strip profile--work_container" data-work-id="12632501"><div class="profile--work_thumbnail hidden-xs"><a class="js-work-strip-work-link" data-click-track="profile-work-strip-thumbnail" href="https://www.academia.edu/12632501/HOXB13_is_a_susceptibility_gene_for_prostate_cancer_results_from_the_International_Consortium_for_Prostate_Cancer_Genetics_ICPCG_"><img alt="Research paper thumbnail of HOXB13 is a susceptibility gene for prostate cancer: results from the International Consortium for Prostate Cancer Genetics (ICPCG)" class="work-thumbnail" src="https://attachments.academia-assets.com/46037455/thumbnails/1.jpg" /></a></div><div class="wp-workCard wp-workCard_itemContainer"><div class="wp-workCard_item wp-workCard--title"><a class="js-work-strip-work-link text-gray-darker" data-click-track="profile-work-strip-title" href="https://www.academia.edu/12632501/HOXB13_is_a_susceptibility_gene_for_prostate_cancer_results_from_the_International_Consortium_for_Prostate_Cancer_Genetics_ICPCG_">HOXB13 is a susceptibility gene for prostate cancer: results from the International Consortium for Prostate Cancer Genetics (ICPCG)</a></div><div class="wp-workCard_item"><span>Human Genetics</span><span>, 2013</span></div><div class="wp-workCard_item wp-workCard--actions"><span class="work-strip-bookmark-button-container"></span><a id="5ba914320ada12f5d82bfab2b889a6d5" class="wp-workCard--action" rel="nofollow" data-click-track="profile-work-strip-download" data-download="{"attachment_id":46037455,"asset_id":12632501,"asset_type":"Work","button_location":"profile"}" href="https://www.academia.edu/attachments/46037455/download_file?st=MTczMjk5MzEwOCw4LjIyMi4yMDguMTQ2&s=profile"><span><i class="fa fa-arrow-down"></i></span><span>Download</span></a><span class="wp-workCard--action visible-if-viewed-by-owner inline-block" style="display: none;"><span class="js-profile-work-strip-edit-button-wrapper profile-work-strip-edit-button-wrapper" data-work-id="12632501"><a class="js-profile-work-strip-edit-button" tabindex="0"><span><i class="fa fa-pencil"></i></span><span>Edit</span></a></span></span><span id="work-strip-rankings-button-container"></span></div><div class="wp-workCard_item wp-workCard--stats"><span><span><span class="js-view-count view-count u-mr2x" data-work-id="12632501"><i class="fa fa-spinner fa-spin"></i></span><script>$(function () { var workId = 12632501; 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Recently, a rare, recurrent mutation (G84E) in HOXB13 was reported to be associated with prostate cancer risk. Confirmation and characterization of this finding is necessary to potentially translate this information to the clinic. To examine this finding in a large international sample of prostate cancer families, we genotyped this mutation and 14 other SNPs in or flanking HOXB13 in 2,443 prostate cancer families recruited by the International Consortium for Prostate Cancer Genetics (ICPCG). At least one mutation carrier was found in 112 prostate cancer families (4.6 %), all of European descent. Within carrier families, the G84E mutation was more common in men with a diagnosis of K. A. Cooney and W. B. Isaacs are Co-Senior Authors.","publication_date":{"day":null,"month":null,"year":2013,"errors":{}},"publication_name":"Human Genetics","grobid_abstract_attachment_id":46037455},"translated_abstract":null,"internal_url":"https://www.academia.edu/12632501/HOXB13_is_a_susceptibility_gene_for_prostate_cancer_results_from_the_International_Consortium_for_Prostate_Cancer_Genetics_ICPCG_","translated_internal_url":"","created_at":"2015-05-27T09:37:34.257-07:00","preview_url":null,"current_user_can_edit":null,"current_user_is_owner":null,"owner_id":31600762,"coauthors_can_edit":true,"document_type":"paper","co_author_tags":[],"downloadable_attachments":[{"id":46037455,"title":"","file_type":"pdf","scribd_thumbnail_url":"https://attachments.academia-assets.com/46037455/thumbnails/1.jpg","file_name":"HOXB13_is_a_susceptibility_gene_for_pros20160529-10603-1epi55.pdf","download_url":"https://www.academia.edu/attachments/46037455/download_file?st=MTczMjk5MzEwOCw4LjIyMi4yMDguMTQ2&","bulk_download_file_name":"HOXB13_is_a_susceptibility_gene_for_pros.pdf","bulk_download_url":"https://d1wqtxts1xzle7.cloudfront.net/46037455/HOXB13_is_a_susceptibility_gene_for_pros20160529-10603-1epi55-libre.pdf?1464514406=\u0026response-content-disposition=attachment%3B+filename%3DHOXB13_is_a_susceptibility_gene_for_pros.pdf\u0026Expires=1732996708\u0026Signature=QtfS4Dri90GgYHPO~Dst-5IGqCcJbPhv7rszkJ-K3wHwDLulCor~OYFN14cc2UgYOaS52Tqo6J-aY8vtnmSZODz1B9vRGAZYWm345C5edWKQn587vOk3LhD0Z5xx3aLROBXGOHrrX2u6zGBBX7zJuu1FQaML-~MGhkPrxaPf0-1UCNaOY7lIb5fwp2ivNHnH5e~~cQgLz2Qo0lK0yYYg-CFGyHeK-FEleM7dKpjbeilq9naPCYI20tIDH9ovFdGIHKN872z0XM5fE1NlQFUEHh6nZwiipPVRSEgYhw8NFYaIU2zhKlbpXeGDKScSZ2plLobC1PXXYLPpI010M7n32Q__\u0026Key-Pair-Id=APKAJLOHF5GGSLRBV4ZA"}],"slug":"HOXB13_is_a_susceptibility_gene_for_prostate_cancer_results_from_the_International_Consortium_for_Prostate_Cancer_Genetics_ICPCG_","translated_slug":"","page_count":10,"language":"en","content_type":"Work","owner":{"id":31600762,"first_name":"Nancy","middle_initials":null,"last_name":"Hamel","page_name":"NancyHamel","domain_name":"independent","created_at":"2015-05-27T09:36:34.282-07:00","display_name":"Nancy Hamel","url":"https://independent.academia.edu/NancyHamel"},"attachments":[{"id":46037455,"title":"","file_type":"pdf","scribd_thumbnail_url":"https://attachments.academia-assets.com/46037455/thumbnails/1.jpg","file_name":"HOXB13_is_a_susceptibility_gene_for_pros20160529-10603-1epi55.pdf","download_url":"https://www.academia.edu/attachments/46037455/download_file?st=MTczMjk5MzEwOCw4LjIyMi4yMDguMTQ2&","bulk_download_file_name":"HOXB13_is_a_susceptibility_gene_for_pros.pdf","bulk_download_url":"https://d1wqtxts1xzle7.cloudfront.net/46037455/HOXB13_is_a_susceptibility_gene_for_pros20160529-10603-1epi55-libre.pdf?1464514406=\u0026response-content-disposition=attachment%3B+filename%3DHOXB13_is_a_susceptibility_gene_for_pros.pdf\u0026Expires=1732996708\u0026Signature=QtfS4Dri90GgYHPO~Dst-5IGqCcJbPhv7rszkJ-K3wHwDLulCor~OYFN14cc2UgYOaS52Tqo6J-aY8vtnmSZODz1B9vRGAZYWm345C5edWKQn587vOk3LhD0Z5xx3aLROBXGOHrrX2u6zGBBX7zJuu1FQaML-~MGhkPrxaPf0-1UCNaOY7lIb5fwp2ivNHnH5e~~cQgLz2Qo0lK0yYYg-CFGyHeK-FEleM7dKpjbeilq9naPCYI20tIDH9ovFdGIHKN872z0XM5fE1NlQFUEHh6nZwiipPVRSEgYhw8NFYaIU2zhKlbpXeGDKScSZ2plLobC1PXXYLPpI010M7n32Q__\u0026Key-Pair-Id=APKAJLOHF5GGSLRBV4ZA"}],"research_interests":[{"id":156,"name":"Genetics","url":"https://www.academia.edu/Documents/in/Genetics"},{"id":1135,"name":"Human Genetics","url":"https://www.academia.edu/Documents/in/Human_Genetics"},{"id":4083,"name":"Complementary and Alternative Medicine","url":"https://www.academia.edu/Documents/in/Complementary_and_Alternative_Medicine"},{"id":125069,"name":"Genetic Association Studies","url":"https://www.academia.edu/Documents/in/Genetic_Association_Studies"},{"id":561981,"name":"European Continental Ancestry Group","url":"https://www.academia.edu/Documents/in/European_Continental_Ancestry_Group"},{"id":894908,"name":"Amino Acid Substitution Rates","url":"https://www.academia.edu/Documents/in/Amino_Acid_Substitution_Rates"},{"id":1819400,"name":"Cohort Studies","url":"https://www.academia.edu/Documents/in/Cohort_Studies"}],"urls":[]}, dispatcherData: dispatcherData }); $(this).data('initialized', true); } }); $a.trackClickSource(".js-work-strip-work-link", "profile_work_strip") }); </script> </div><div class="profile--tab_content_container js-tab-pane tab-pane" data-section-id="2980885" id="papers"><div class="js-work-strip profile--work_container" data-work-id="12632520"><div class="profile--work_thumbnail hidden-xs"><a class="js-work-strip-work-link" data-click-track="profile-work-strip-thumbnail" href="https://www.academia.edu/12632520/Germline_RECQL_mutations_are_associated_with_breast_cancer_susceptibility"><img alt="Research paper thumbnail of Germline RECQL mutations are associated with breast cancer susceptibility" class="work-thumbnail" src="https://attachments.academia-assets.com/46037465/thumbnails/1.jpg" /></a></div><div class="wp-workCard wp-workCard_itemContainer"><div class="wp-workCard_item wp-workCard--title"><a class="js-work-strip-work-link text-gray-darker" data-click-track="profile-work-strip-title" href="https://www.academia.edu/12632520/Germline_RECQL_mutations_are_associated_with_breast_cancer_susceptibility">Germline RECQL mutations are associated with breast cancer susceptibility</a></div><div class="wp-workCard_item"><span>Nature Genetics</span><span>, 2015</span></div><div class="wp-workCard_item wp-workCard--actions"><span class="work-strip-bookmark-button-container"></span><a id="e21046656d7825bb1de8df5007ad87c3" class="wp-workCard--action" rel="nofollow" data-click-track="profile-work-strip-download" data-download="{"attachment_id":46037465,"asset_id":12632520,"asset_type":"Work","button_location":"profile"}" href="https://www.academia.edu/attachments/46037465/download_file?st=MTczMjk5MzEwOCw4LjIyMi4yMDguMTQ2&st=MTczMjk5MzEwNyw4LjIyMi4yMDguMTQ2&s=profile"><span><i class="fa fa-arrow-down"></i></span><span>Download</span></a><span class="wp-workCard--action visible-if-viewed-by-owner inline-block" style="display: none;"><span class="js-profile-work-strip-edit-button-wrapper profile-work-strip-edit-button-wrapper" data-work-id="12632520"><a class="js-profile-work-strip-edit-button" tabindex="0"><span><i class="fa fa-pencil"></i></span><span>Edit</span></a></span></span><span id="work-strip-rankings-button-container"></span></div><div class="wp-workCard_item wp-workCard--stats"><span><span><span class="js-view-count view-count u-mr2x" data-work-id="12632520"><i class="fa fa-spinner fa-spin"></i></span><script>$(function () { var workId = 12632520; 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To discover new breast cancer susceptibility genes, we used 2 populations (from Poland and Quebec, Canada) and applied whole-exome sequencing in a discovery phase (n = 95), followed by validation. We identified rare recurrent RECQL mutations in each population. In Quebec, 7 of ,03 higher-risk breast cancer cases and of 7,36 newborns carried the c.634C\u003eT (p.Arg25*) variant (P = 0.00004). In Poland, 30 of 3,36 unselected breast cancer cases and 2 of 4,702 controls carried the c.667_667+3delAGTA (p.K555delinsMYKLIHYSFR) variant (P = 0.008). RECQL is implicated in resolving stalled DNA replication forks to prevent double-stranded DNA (dsDNA) breaks. This function is related to that of other known breast cancer susceptibility genes, many of which are involved in repairing dsDNA breaks. We conclude that RECQL is a breast cancer susceptibility gene.","publication_date":{"day":null,"month":null,"year":2015,"errors":{}},"publication_name":"Nature Genetics","grobid_abstract_attachment_id":46037465},"translated_abstract":null,"internal_url":"https://www.academia.edu/12632520/Germline_RECQL_mutations_are_associated_with_breast_cancer_susceptibility","translated_internal_url":"","created_at":"2015-05-27T09:37:37.111-07:00","preview_url":null,"current_user_can_edit":null,"current_user_is_owner":null,"owner_id":31600762,"coauthors_can_edit":true,"document_type":"paper","co_author_tags":[],"downloadable_attachments":[{"id":46037465,"title":"","file_type":"pdf","scribd_thumbnail_url":"https://attachments.academia-assets.com/46037465/thumbnails/1.jpg","file_name":"Germline_RECQL_mutations_are_associated_20160529-27068-6dzi0c.pdf","download_url":"https://www.academia.edu/attachments/46037465/download_file?st=MTczMjk5MzEwOCw4LjIyMi4yMDguMTQ2&st=MTczMjk5MzEwNyw4LjIyMi4yMDguMTQ2&","bulk_download_file_name":"Germline_RECQL_mutations_are_associated.pdf","bulk_download_url":"https://d1wqtxts1xzle7.cloudfront.net/46037465/Germline_RECQL_mutations_are_associated_20160529-27068-6dzi0c-libre.pdf?1464514406=\u0026response-content-disposition=attachment%3B+filename%3DGermline_RECQL_mutations_are_associated.pdf\u0026Expires=1732996707\u0026Signature=PLGcLfS7dMihdzoVQPl-uorbnsC69LBfal2KviosPo5l623m3G-cA1YDIuDn1wmLx6xUO-7U363XvFtDj1pQWZalynR8cI8zVvqefso3tufs0yCGhS4vzkaTr0Ti0vQsxWBRKTVO5-xStJPUMoKKdF~Q1DshvJlIZZTfdZo8D-FszZYu0EM6HpQMBXLfjthCeu9q-eWQAWrvCzVNrXau1p1SpdIJjQzGtiA0hPhec~uBf14hjK3qFHhdcDOEs65pWJpvIMVX0hElv2bN9L1~xpqQLNp~54RA7-Yv3xQd33ly-f7zs8buv1kWrPjKLTIcdFJpkdLK-D9cQ4KvGxnQyw__\u0026Key-Pair-Id=APKAJLOHF5GGSLRBV4ZA"}],"slug":"Germline_RECQL_mutations_are_associated_with_breast_cancer_susceptibility","translated_slug":"","page_count":7,"language":"en","content_type":"Work","owner":{"id":31600762,"first_name":"Nancy","middle_initials":null,"last_name":"Hamel","page_name":"NancyHamel","domain_name":"independent","created_at":"2015-05-27T09:36:34.282-07:00","display_name":"Nancy Hamel","url":"https://independent.academia.edu/NancyHamel"},"attachments":[{"id":46037465,"title":"","file_type":"pdf","scribd_thumbnail_url":"https://attachments.academia-assets.com/46037465/thumbnails/1.jpg","file_name":"Germline_RECQL_mutations_are_associated_20160529-27068-6dzi0c.pdf","download_url":"https://www.academia.edu/attachments/46037465/download_file?st=MTczMjk5MzEwOCw4LjIyMi4yMDguMTQ2&st=MTczMjk5MzEwNyw4LjIyMi4yMDguMTQ2&","bulk_download_file_name":"Germline_RECQL_mutations_are_associated.pdf","bulk_download_url":"https://d1wqtxts1xzle7.cloudfront.net/46037465/Germline_RECQL_mutations_are_associated_20160529-27068-6dzi0c-libre.pdf?1464514406=\u0026response-content-disposition=attachment%3B+filename%3DGermline_RECQL_mutations_are_associated.pdf\u0026Expires=1732996707\u0026Signature=PLGcLfS7dMihdzoVQPl-uorbnsC69LBfal2KviosPo5l623m3G-cA1YDIuDn1wmLx6xUO-7U363XvFtDj1pQWZalynR8cI8zVvqefso3tufs0yCGhS4vzkaTr0Ti0vQsxWBRKTVO5-xStJPUMoKKdF~Q1DshvJlIZZTfdZo8D-FszZYu0EM6HpQMBXLfjthCeu9q-eWQAWrvCzVNrXau1p1SpdIJjQzGtiA0hPhec~uBf14hjK3qFHhdcDOEs65pWJpvIMVX0hElv2bN9L1~xpqQLNp~54RA7-Yv3xQd33ly-f7zs8buv1kWrPjKLTIcdFJpkdLK-D9cQ4KvGxnQyw__\u0026Key-Pair-Id=APKAJLOHF5GGSLRBV4ZA"}],"research_interests":[{"id":47884,"name":"Biological Sciences","url":"https://www.academia.edu/Documents/in/Biological_Sciences"},{"id":125069,"name":"Genetic Association Studies","url":"https://www.academia.edu/Documents/in/Genetic_Association_Studies"},{"id":188349,"name":"Pedigree","url":"https://www.academia.edu/Documents/in/Pedigree"},{"id":809882,"name":"Base Sequence","url":"https://www.academia.edu/Documents/in/Base_Sequence"},{"id":1819399,"name":"Case Control Studies","url":"https://www.academia.edu/Documents/in/Case_Control_Studies"},{"id":2196342,"name":"RecQ Helicases","url":"https://www.academia.edu/Documents/in/RecQ_Helicases"},{"id":2467566,"name":"Molecular Sequence Data","url":"https://www.academia.edu/Documents/in/Molecular_Sequence_Data"}],"urls":[]}, dispatcherData: dispatcherData }); $(this).data('initialized', true); } }); $a.trackClickSource(".js-work-strip-work-link", "profile_work_strip") }); </script> <div class="js-work-strip profile--work_container" data-work-id="12632518"><div class="profile--work_thumbnail hidden-xs"><a class="js-work-strip-work-link" data-click-track="profile-work-strip-thumbnail" href="https://www.academia.edu/12632518/Mutation_analysis_of_RAD51D_in_non_BRCA1_2_ovarian_and_breast_cancer_families"><img alt="Research paper thumbnail of Mutation analysis of RAD51D in non-BRCA1/2 ovarian and breast cancer families" class="work-thumbnail" src="https://attachments.academia-assets.com/46037441/thumbnails/1.jpg" /></a></div><div class="wp-workCard wp-workCard_itemContainer"><div class="wp-workCard_item wp-workCard--title"><a class="js-work-strip-work-link text-gray-darker" data-click-track="profile-work-strip-title" href="https://www.academia.edu/12632518/Mutation_analysis_of_RAD51D_in_non_BRCA1_2_ovarian_and_breast_cancer_families">Mutation analysis of RAD51D in non-BRCA1/2 ovarian and breast cancer families</a></div><div class="wp-workCard_item"><span>British journal of cancer</span><span>, Jan 10, 2012</span></div><div class="wp-workCard_item"><span class="js-work-more-abstract-truncated">Recent data show that mutations in RAD51D have an aetiological role in ovarian carcinoma, yet mut...</span><a class="js-work-more-abstract" data-broccoli-component="work_strip.more_abstract" data-click-track="profile-work-strip-more-abstract" href="javascript:;"><span> more </span><span><i class="fa fa-caret-down"></i></span></a><span class="js-work-more-abstract-untruncated hidden">Recent data show that mutations in RAD51D have an aetiological role in ovarian carcinoma, yet mutations do not appear to be associated with an increased risk for breast cancer. We studied ovarian and breast cancer families having at least one woman affected by ovarian carcinoma, to assess the importance of RAD51D mutations in such families. The coding region of the RAD51D gene was analysed in 175 BRCA1/2-negative families with family histories of both ovarian and breast cancer ascertained from two Canadian and two Belgian institutions. We identified one previously reported deleterious mutation, p.Arg186(*) (c.556C&gt;T), and two novel variants; missense substitution p.Cys119Arg and an intronic variant c.83-26A&gt;G. p.Arg186(*) segregated with the disease in the family and two ovarian carcinomas available for analysis showed loss of the wild-type allele, but the novel variants are likely neutral. RAD51D should be included in genetic screening of ovarian cancer families that do not h...</span></div><div class="wp-workCard_item wp-workCard--actions"><span class="work-strip-bookmark-button-container"></span><a id="99ecb06981b7532afa23b35b2364369f" class="wp-workCard--action" rel="nofollow" data-click-track="profile-work-strip-download" data-download="{"attachment_id":46037441,"asset_id":12632518,"asset_type":"Work","button_location":"profile"}" href="https://www.academia.edu/attachments/46037441/download_file?st=MTczMjk5MzEwOCw4LjIyMi4yMDguMTQ2&st=MTczMjk5MzEwNyw4LjIyMi4yMDguMTQ2&s=profile"><span><i class="fa fa-arrow-down"></i></span><span>Download</span></a><span class="wp-workCard--action visible-if-viewed-by-owner inline-block" style="display: none;"><span class="js-profile-work-strip-edit-button-wrapper profile-work-strip-edit-button-wrapper" data-work-id="12632518"><a class="js-profile-work-strip-edit-button" tabindex="0"><span><i class="fa fa-pencil"></i></span><span>Edit</span></a></span></span><span id="work-strip-rankings-button-container"></span></div><div class="wp-workCard_item wp-workCard--stats"><span><span><span class="js-view-count view-count u-mr2x" data-work-id="12632518"><i class="fa fa-spinner fa-spin"></i></span><script>$(function () { var workId = 12632518; window.Academia.workViewCountsFetcher.queue(workId, function (count) { var description = window.$h.commaizeInt(count) + " " + window.$h.pluralize(count, 'View'); $(".js-view-count[data-work-id=12632518]").text(description); $(".js-view-count[data-work-id=12632518]").attr('title', description).tooltip(); }); });</script></span></span><span><span class="percentile-widget hidden"><span class="u-mr2x work-percentile"></span></span><script>$(function () { var workId = 12632518; window.Academia.workPercentilesFetcher.queue(workId, function (percentileText) { var container = $(".js-work-strip[data-work-id='12632518']"); container.find('.work-percentile').text(percentileText.charAt(0).toUpperCase() + percentileText.slice(1)); container.find('.percentile-widget').show(); container.find('.percentile-widget').removeClass('hidden'); }); });</script></span><span><script>$(function() { new Works.PaperRankView({ workId: 12632518, container: "", }); });</script></span></div><div id="work-strip-premium-row-container"></div></div></div><script> require.config({ waitSeconds: 90 })(["https://a.academia-assets.com/assets/wow_profile-f77ea15d77ce96025a6048a514272ad8becbad23c641fc2b3bd6e24ca6ff1932.js","https://a.academia-assets.com/assets/work_edit-ad038b8c047c1a8d4fa01b402d530ff93c45fee2137a149a4a5398bc8ad67560.js"], function() { // from javascript_helper.rb var dispatcherData = {} if (true){ window.WowProfile.dispatcher = window.WowProfile.dispatcher || _.clone(Backbone.Events); dispatcherData = { dispatcher: window.WowProfile.dispatcher, downloadLinkId: "99ecb06981b7532afa23b35b2364369f" } } $('.js-work-strip[data-work-id=12632518]').each(function() { if (!$(this).data('initialized')) { new WowProfile.WorkStripView({ el: this, workJSON: {"id":12632518,"title":"Mutation analysis of RAD51D in non-BRCA1/2 ovarian and breast cancer families","translated_title":"","metadata":{"abstract":"Recent data show that mutations in RAD51D have an aetiological role in ovarian carcinoma, yet mutations do not appear to be associated with an increased risk for breast cancer. We studied ovarian and breast cancer families having at least one woman affected by ovarian carcinoma, to assess the importance of RAD51D mutations in such families. The coding region of the RAD51D gene was analysed in 175 BRCA1/2-negative families with family histories of both ovarian and breast cancer ascertained from two Canadian and two Belgian institutions. We identified one previously reported deleterious mutation, p.Arg186(*) (c.556C\u0026gt;T), and two novel variants; missense substitution p.Cys119Arg and an intronic variant c.83-26A\u0026gt;G. p.Arg186(*) segregated with the disease in the family and two ovarian carcinomas available for analysis showed loss of the wild-type allele, but the novel variants are likely neutral. RAD51D should be included in genetic screening of ovarian cancer families that do not h...","publication_date":{"day":10,"month":1,"year":2012,"errors":{}},"publication_name":"British journal of cancer"},"translated_abstract":"Recent data show that mutations in RAD51D have an aetiological role in ovarian carcinoma, yet mutations do not appear to be associated with an increased risk for breast cancer. We studied ovarian and breast cancer families having at least one woman affected by ovarian carcinoma, to assess the importance of RAD51D mutations in such families. The coding region of the RAD51D gene was analysed in 175 BRCA1/2-negative families with family histories of both ovarian and breast cancer ascertained from two Canadian and two Belgian institutions. We identified one previously reported deleterious mutation, p.Arg186(*) (c.556C\u0026gt;T), and two novel variants; missense substitution p.Cys119Arg and an intronic variant c.83-26A\u0026gt;G. p.Arg186(*) segregated with the disease in the family and two ovarian carcinomas available for analysis showed loss of the wild-type allele, but the novel variants are likely neutral. RAD51D should be included in genetic screening of ovarian cancer families that do not h...","internal_url":"https://www.academia.edu/12632518/Mutation_analysis_of_RAD51D_in_non_BRCA1_2_ovarian_and_breast_cancer_families","translated_internal_url":"","created_at":"2015-05-27T09:37:36.273-07:00","preview_url":null,"current_user_can_edit":null,"current_user_is_owner":null,"owner_id":31600762,"coauthors_can_edit":true,"document_type":"paper","co_author_tags":[],"downloadable_attachments":[{"id":46037441,"title":"","file_type":"pdf","scribd_thumbnail_url":"https://attachments.academia-assets.com/46037441/thumbnails/1.jpg","file_name":"Mutation_analysis_of_RAD51D_in_non-BRCA120160529-11605-g8mmgd.pdf","download_url":"https://www.academia.edu/attachments/46037441/download_file?st=MTczMjk5MzEwOCw4LjIyMi4yMDguMTQ2&st=MTczMjk5MzEwNyw4LjIyMi4yMDguMTQ2&","bulk_download_file_name":"Mutation_analysis_of_RAD51D_in_non_BRCA1.pdf","bulk_download_url":"https://d1wqtxts1xzle7.cloudfront.net/46037441/Mutation_analysis_of_RAD51D_in_non-BRCA120160529-11605-g8mmgd-libre.pdf?1464514405=\u0026response-content-disposition=attachment%3B+filename%3DMutation_analysis_of_RAD51D_in_non_BRCA1.pdf\u0026Expires=1732996707\u0026Signature=RmcAaSbI1zo2NCDT-sIaZLFsPxkB7D~JT9HJRxhed4gr-JzJ3S0XboR~W5x9xOnAbuq1AEE3csZBK8VmuM4zKgXUruFHlfFQx0BoZGwf3ULrJBW6jHNVDQmUq1kIsl9bRIHGKIdCk0fi11dQPIvUhjSzLd4MFARbScoY9nBxyN0LQPqKEynIgMyUEQG6JRu6Qx2y5bOZjhhtLaGqKh1da2pTxzxwSuzag62hp8NM-32oSlDUpbv7UhPVmw~I96uZBekZckEtZvWTnXS6jSGWItEmY11laKzqS5GfP3Vlsi8ZyB73JPZeCk3ZKBIOab7y9~S0TJMCzFNXzG6920kOWg__\u0026Key-Pair-Id=APKAJLOHF5GGSLRBV4ZA"}],"slug":"Mutation_analysis_of_RAD51D_in_non_BRCA1_2_ovarian_and_breast_cancer_families","translated_slug":"","page_count":4,"language":"en","content_type":"Work","owner":{"id":31600762,"first_name":"Nancy","middle_initials":null,"last_name":"Hamel","page_name":"NancyHamel","domain_name":"independent","created_at":"2015-05-27T09:36:34.282-07:00","display_name":"Nancy Hamel","url":"https://independent.academia.edu/NancyHamel"},"attachments":[{"id":46037441,"title":"","file_type":"pdf","scribd_thumbnail_url":"https://attachments.academia-assets.com/46037441/thumbnails/1.jpg","file_name":"Mutation_analysis_of_RAD51D_in_non-BRCA120160529-11605-g8mmgd.pdf","download_url":"https://www.academia.edu/attachments/46037441/download_file?st=MTczMjk5MzEwOCw4LjIyMi4yMDguMTQ2&st=MTczMjk5MzEwNyw4LjIyMi4yMDguMTQ2&","bulk_download_file_name":"Mutation_analysis_of_RAD51D_in_non_BRCA1.pdf","bulk_download_url":"https://d1wqtxts1xzle7.cloudfront.net/46037441/Mutation_analysis_of_RAD51D_in_non-BRCA120160529-11605-g8mmgd-libre.pdf?1464514405=\u0026response-content-disposition=attachment%3B+filename%3DMutation_analysis_of_RAD51D_in_non_BRCA1.pdf\u0026Expires=1732996707\u0026Signature=RmcAaSbI1zo2NCDT-sIaZLFsPxkB7D~JT9HJRxhed4gr-JzJ3S0XboR~W5x9xOnAbuq1AEE3csZBK8VmuM4zKgXUruFHlfFQx0BoZGwf3ULrJBW6jHNVDQmUq1kIsl9bRIHGKIdCk0fi11dQPIvUhjSzLd4MFARbScoY9nBxyN0LQPqKEynIgMyUEQG6JRu6Qx2y5bOZjhhtLaGqKh1da2pTxzxwSuzag62hp8NM-32oSlDUpbv7UhPVmw~I96uZBekZckEtZvWTnXS6jSGWItEmY11laKzqS5GfP3Vlsi8ZyB73JPZeCk3ZKBIOab7y9~S0TJMCzFNXzG6920kOWg__\u0026Key-Pair-Id=APKAJLOHF5GGSLRBV4ZA"}],"research_interests":[{"id":73153,"name":"Genetic Testing","url":"https://www.academia.edu/Documents/in/Genetic_Testing"},{"id":74780,"name":"Mutation","url":"https://www.academia.edu/Documents/in/Mutation"},{"id":188349,"name":"Pedigree","url":"https://www.academia.edu/Documents/in/Pedigree"},{"id":901876,"name":"Sensitivity and Specificity","url":"https://www.academia.edu/Documents/in/Sensitivity_and_Specificity"},{"id":1186610,"name":"DNA binding proteins","url":"https://www.academia.edu/Documents/in/DNA_binding_proteins"}],"urls":[]}, dispatcherData: dispatcherData }); $(this).data('initialized', true); } }); $a.trackClickSource(".js-work-strip-work-link", "profile_work_strip") }); </script> <div class="js-work-strip profile--work_container" data-work-id="12632517"><div class="profile--work_thumbnail hidden-xs"><a class="js-work-strip-work-link" data-click-track="profile-work-strip-thumbnail" href="https://www.academia.edu/12632517/Ovarian_embryonal_rhabdomyosarcoma_is_a_rare_manifestation_of_the_DICER1_syndrome"><img alt="Research paper thumbnail of Ovarian embryonal rhabdomyosarcoma is a rare manifestation of the DICER1 syndrome" class="work-thumbnail" src="https://a.academia-assets.com/images/blank-paper.jpg" /></a></div><div class="wp-workCard wp-workCard_itemContainer"><div class="wp-workCard_item wp-workCard--title"><a class="js-work-strip-work-link text-gray-darker" data-click-track="profile-work-strip-title" href="https://www.academia.edu/12632517/Ovarian_embryonal_rhabdomyosarcoma_is_a_rare_manifestation_of_the_DICER1_syndrome">Ovarian embryonal rhabdomyosarcoma is a rare manifestation of the DICER1 syndrome</a></div><div class="wp-workCard_item"><span>Human Pathology</span><span>, 2015</span></div><div class="wp-workCard_item"><span class="js-work-more-abstract-truncated">Embryonal rhabdomyosarcoma (ERMS), a soft tissue sarcoma, is one of the most common pediatric can...</span><a class="js-work-more-abstract" data-broccoli-component="work_strip.more_abstract" data-click-track="profile-work-strip-more-abstract" href="javascript:;"><span> more </span><span><i class="fa fa-caret-down"></i></span></a><span class="js-work-more-abstract-untruncated hidden">Embryonal rhabdomyosarcoma (ERMS), a soft tissue sarcoma, is one of the most common pediatric cancers. Certain ERMSs are associated with the DICER1 syndrome, a tumor predisposition syndrome caused by germ-line DICER1 mutations. Characteristic somatic mutations have also been identified in DICER1-associated tumor types. These &amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;quot;hotspot&amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;quot; mutations affect the catalytic activity of the DICER1 ribonuclease IIIb domain. Primary ovarian ERMS (oERMS) is extremely rare. We present a case of a 6-year-old girl with an oERMS harboring 2 DICER1 mutations. The girl also exhibited other DICER1 phenotypes: cystic nephroma (CN) and multinodular goiter. Somatic investigations of the CN identified a hotspot DICER1 mutation different from that in the oERMS. Significantly, the CN presented at 12 years of age, which is much older than the previously reported age range of susceptibility. This report documents the occurrence of DICER1 mutations in a case of oERMS, expanding the spectrum of DICER1-associated tumors.</span></div><div class="wp-workCard_item wp-workCard--actions"><span class="work-strip-bookmark-button-container"></span><span class="wp-workCard--action visible-if-viewed-by-owner inline-block" style="display: none;"><span class="js-profile-work-strip-edit-button-wrapper profile-work-strip-edit-button-wrapper" data-work-id="12632517"><a class="js-profile-work-strip-edit-button" tabindex="0"><span><i class="fa fa-pencil"></i></span><span>Edit</span></a></span></span><span id="work-strip-rankings-button-container"></span></div><div class="wp-workCard_item wp-workCard--stats"><span><span><span class="js-view-count view-count u-mr2x" data-work-id="12632517"><i class="fa fa-spinner fa-spin"></i></span><script>$(function () { var workId = 12632517; window.Academia.workViewCountsFetcher.queue(workId, function (count) { var description = window.$h.commaizeInt(count) + " " + window.$h.pluralize(count, 'View'); $(".js-view-count[data-work-id=12632517]").text(description); $(".js-view-count[data-work-id=12632517]").attr('title', description).tooltip(); }); });</script></span></span><span><span class="percentile-widget hidden"><span class="u-mr2x work-percentile"></span></span><script>$(function () { var workId = 12632517; window.Academia.workPercentilesFetcher.queue(workId, function (percentileText) { var container = $(".js-work-strip[data-work-id='12632517']"); container.find('.work-percentile').text(percentileText.charAt(0).toUpperCase() + percentileText.slice(1)); container.find('.percentile-widget').show(); container.find('.percentile-widget').removeClass('hidden'); }); });</script></span><span><script>$(function() { new Works.PaperRankView({ workId: 12632517, container: "", }); });</script></span></div><div id="work-strip-premium-row-container"></div></div></div><script> require.config({ waitSeconds: 90 })(["https://a.academia-assets.com/assets/wow_profile-f77ea15d77ce96025a6048a514272ad8becbad23c641fc2b3bd6e24ca6ff1932.js","https://a.academia-assets.com/assets/work_edit-ad038b8c047c1a8d4fa01b402d530ff93c45fee2137a149a4a5398bc8ad67560.js"], function() { // from javascript_helper.rb var dispatcherData = {} if (false){ window.WowProfile.dispatcher = window.WowProfile.dispatcher || _.clone(Backbone.Events); dispatcherData = { dispatcher: window.WowProfile.dispatcher, downloadLinkId: "-1" } } $('.js-work-strip[data-work-id=12632517]').each(function() { if (!$(this).data('initialized')) { new WowProfile.WorkStripView({ el: this, workJSON: {"id":12632517,"title":"Ovarian embryonal rhabdomyosarcoma is a rare manifestation of the DICER1 syndrome","translated_title":"","metadata":{"abstract":"Embryonal rhabdomyosarcoma (ERMS), a soft tissue sarcoma, is one of the most common pediatric cancers. Certain ERMSs are associated with the DICER1 syndrome, a tumor predisposition syndrome caused by germ-line DICER1 mutations. Characteristic somatic mutations have also been identified in DICER1-associated tumor types. These \u0026amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;quot;hotspot\u0026amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;quot; mutations affect the catalytic activity of the DICER1 ribonuclease IIIb domain. Primary ovarian ERMS (oERMS) is extremely rare. We present a case of a 6-year-old girl with an oERMS harboring 2 DICER1 mutations. The girl also exhibited other DICER1 phenotypes: cystic nephroma (CN) and multinodular goiter. Somatic investigations of the CN identified a hotspot DICER1 mutation different from that in the oERMS. Significantly, the CN presented at 12 years of age, which is much older than the previously reported age range of susceptibility. This report documents the occurrence of DICER1 mutations in a case of oERMS, expanding the spectrum of DICER1-associated tumors.","publication_date":{"day":null,"month":null,"year":2015,"errors":{}},"publication_name":"Human Pathology"},"translated_abstract":"Embryonal rhabdomyosarcoma (ERMS), a soft tissue sarcoma, is one of the most common pediatric cancers. Certain ERMSs are associated with the DICER1 syndrome, a tumor predisposition syndrome caused by germ-line DICER1 mutations. Characteristic somatic mutations have also been identified in DICER1-associated tumor types. These \u0026amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;quot;hotspot\u0026amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;quot; mutations affect the catalytic activity of the DICER1 ribonuclease IIIb domain. Primary ovarian ERMS (oERMS) is extremely rare. We present a case of a 6-year-old girl with an oERMS harboring 2 DICER1 mutations. The girl also exhibited other DICER1 phenotypes: cystic nephroma (CN) and multinodular goiter. Somatic investigations of the CN identified a hotspot DICER1 mutation different from that in the oERMS. Significantly, the CN presented at 12 years of age, which is much older than the previously reported age range of susceptibility. This report documents the occurrence of DICER1 mutations in a case of oERMS, expanding the spectrum of DICER1-associated tumors.","internal_url":"https://www.academia.edu/12632517/Ovarian_embryonal_rhabdomyosarcoma_is_a_rare_manifestation_of_the_DICER1_syndrome","translated_internal_url":"","created_at":"2015-05-27T09:37:36.161-07:00","preview_url":null,"current_user_can_edit":null,"current_user_is_owner":null,"owner_id":31600762,"coauthors_can_edit":true,"document_type":"paper","co_author_tags":[],"downloadable_attachments":[],"slug":"Ovarian_embryonal_rhabdomyosarcoma_is_a_rare_manifestation_of_the_DICER1_syndrome","translated_slug":"","page_count":null,"language":"en","content_type":"Work","owner":{"id":31600762,"first_name":"Nancy","middle_initials":null,"last_name":"Hamel","page_name":"NancyHamel","domain_name":"independent","created_at":"2015-05-27T09:36:34.282-07:00","display_name":"Nancy Hamel","url":"https://independent.academia.edu/NancyHamel"},"attachments":[],"research_interests":[{"id":52523,"name":"miRNA","url":"https://www.academia.edu/Documents/in/miRNA"},{"id":64933,"name":"Child","url":"https://www.academia.edu/Documents/in/Child"},{"id":74780,"name":"Mutation","url":"https://www.academia.edu/Documents/in/Mutation"},{"id":213897,"name":"Phenotype","url":"https://www.academia.edu/Documents/in/Phenotype"},{"id":244814,"name":"Clinical Sciences","url":"https://www.academia.edu/Documents/in/Clinical_Sciences"},{"id":295854,"name":"microRNAs","url":"https://www.academia.edu/Documents/in/microRNAs"},{"id":674257,"name":"Human Pathology","url":"https://www.academia.edu/Documents/in/Human_Pathology"},{"id":869175,"name":"Ovary","url":"https://www.academia.edu/Documents/in/Ovary"}],"urls":[]}, dispatcherData: dispatcherData }); $(this).data('initialized', true); } }); $a.trackClickSource(".js-work-strip-work-link", "profile_work_strip") }); </script> <div class="js-work-strip profile--work_container" data-work-id="12632516"><div class="profile--work_thumbnail hidden-xs"><a class="js-work-strip-work-link" data-click-track="profile-work-strip-thumbnail" href="https://www.academia.edu/12632516/Relationship_Between_Angiotensin_Converting_Enzyme_Gene_Polymorphism_and_Body_Composition_Functional_Performance_and_Blood_Biomarkers_in_Advanced_Cancer_Patients"><img alt="Research paper thumbnail of Relationship Between Angiotensin-Converting Enzyme Gene Polymorphism and Body Composition, Functional Performance, and Blood Biomarkers in Advanced Cancer Patients" class="work-thumbnail" src="https://attachments.academia-assets.com/37752907/thumbnails/1.jpg" /></a></div><div class="wp-workCard wp-workCard_itemContainer"><div class="wp-workCard_item wp-workCard--title"><a class="js-work-strip-work-link text-gray-darker" data-click-track="profile-work-strip-title" href="https://www.academia.edu/12632516/Relationship_Between_Angiotensin_Converting_Enzyme_Gene_Polymorphism_and_Body_Composition_Functional_Performance_and_Blood_Biomarkers_in_Advanced_Cancer_Patients">Relationship Between Angiotensin-Converting Enzyme Gene Polymorphism and Body Composition, Functional Performance, and Blood Biomarkers in Advanced Cancer Patients</a></div><div class="wp-workCard_item"><span class="js-work-more-abstract-truncated">Purpose: Nutritional and functional outcome measures have been shown to vary in patients with chr...</span><a class="js-work-more-abstract" data-broccoli-component="work_strip.more_abstract" data-click-track="profile-work-strip-more-abstract" href="javascript:;"><span> more </span><span><i class="fa fa-caret-down"></i></span></a><span class="js-work-more-abstract-untruncated hidden">Purpose: Nutritional and functional outcome measures have been shown to vary in patients with chronic diseases according to the polymorphic alleles of angiotensin-converting enzyme (ACE), but little is known about the associations between ACE gene polymorphism (ACEGP) and the components of body composition, strength, and selected blood markers in advanced cancer patients (ACP). Experimental Design: Data were collected from an</span></div><div class="wp-workCard_item wp-workCard--actions"><span class="work-strip-bookmark-button-container"></span><a id="3e56d16e4b62eb47fa36d36f13e446b5" class="wp-workCard--action" rel="nofollow" data-click-track="profile-work-strip-download" data-download="{"attachment_id":37752907,"asset_id":12632516,"asset_type":"Work","button_location":"profile"}" href="https://www.academia.edu/attachments/37752907/download_file?st=MTczMjk5MzEwOCw4LjIyMi4yMDguMTQ2&st=MTczMjk5MzEwNyw4LjIyMi4yMDguMTQ2&s=profile"><span><i class="fa fa-arrow-down"></i></span><span>Download</span></a><span class="wp-workCard--action visible-if-viewed-by-owner inline-block" style="display: none;"><span class="js-profile-work-strip-edit-button-wrapper profile-work-strip-edit-button-wrapper" data-work-id="12632516"><a class="js-profile-work-strip-edit-button" tabindex="0"><span><i class="fa fa-pencil"></i></span><span>Edit</span></a></span></span><span id="work-strip-rankings-button-container"></span></div><div class="wp-workCard_item wp-workCard--stats"><span><span><span class="js-view-count view-count u-mr2x" data-work-id="12632516"><i class="fa fa-spinner fa-spin"></i></span><script>$(function () { var workId = 12632516; window.Academia.workViewCountsFetcher.queue(workId, function (count) { var description = window.$h.commaizeInt(count) + " " + window.$h.pluralize(count, 'View'); $(".js-view-count[data-work-id=12632516]").text(description); $(".js-view-count[data-work-id=12632516]").attr('title', description).tooltip(); }); });</script></span></span><span><span class="percentile-widget hidden"><span class="u-mr2x work-percentile"></span></span><script>$(function () { var workId = 12632516; window.Academia.workPercentilesFetcher.queue(workId, function (percentileText) { var container = $(".js-work-strip[data-work-id='12632516']"); container.find('.work-percentile').text(percentileText.charAt(0).toUpperCase() + percentileText.slice(1)); container.find('.percentile-widget').show(); container.find('.percentile-widget').removeClass('hidden'); }); });</script></span><span><script>$(function() { new Works.PaperRankView({ workId: 12632516, container: "", }); });</script></span></div><div id="work-strip-premium-row-container"></div></div></div><script> require.config({ waitSeconds: 90 })(["https://a.academia-assets.com/assets/wow_profile-f77ea15d77ce96025a6048a514272ad8becbad23c641fc2b3bd6e24ca6ff1932.js","https://a.academia-assets.com/assets/work_edit-ad038b8c047c1a8d4fa01b402d530ff93c45fee2137a149a4a5398bc8ad67560.js"], function() { // from javascript_helper.rb var dispatcherData = {} if (true){ window.WowProfile.dispatcher = window.WowProfile.dispatcher || _.clone(Backbone.Events); dispatcherData = { dispatcher: window.WowProfile.dispatcher, downloadLinkId: "3e56d16e4b62eb47fa36d36f13e446b5" } } $('.js-work-strip[data-work-id=12632516]').each(function() { if (!$(this).data('initialized')) { new WowProfile.WorkStripView({ el: this, workJSON: {"id":12632516,"title":"Relationship Between Angiotensin-Converting Enzyme Gene Polymorphism and Body Composition, Functional Performance, and Blood Biomarkers in Advanced Cancer Patients","translated_title":"","metadata":{"abstract":"Purpose: Nutritional and functional outcome measures have been shown to vary in patients with chronic diseases according to the polymorphic alleles of angiotensin-converting enzyme (ACE), but little is known about the associations between ACE gene polymorphism (ACEGP) and the components of body composition, strength, and selected blood markers in advanced cancer patients (ACP). Experimental Design: Data were collected from an","publication_date":{"day":null,"month":null,"year":2000,"errors":{}}},"translated_abstract":"Purpose: Nutritional and functional outcome measures have been shown to vary in patients with chronic diseases according to the polymorphic alleles of angiotensin-converting enzyme (ACE), but little is known about the associations between ACE gene polymorphism (ACEGP) and the components of body composition, strength, and selected blood markers in advanced cancer patients (ACP). Experimental Design: Data were collected from an","internal_url":"https://www.academia.edu/12632516/Relationship_Between_Angiotensin_Converting_Enzyme_Gene_Polymorphism_and_Body_Composition_Functional_Performance_and_Blood_Biomarkers_in_Advanced_Cancer_Patients","translated_internal_url":"","created_at":"2015-05-27T09:37:35.985-07:00","preview_url":null,"current_user_can_edit":null,"current_user_is_owner":null,"owner_id":31600762,"coauthors_can_edit":true,"document_type":"paper","co_author_tags":[],"downloadable_attachments":[{"id":37752907,"title":"","file_type":"pdf","scribd_thumbnail_url":"https://attachments.academia-assets.com/37752907/thumbnails/1.jpg","file_name":"ClinicalCancerResearch.pdf","download_url":"https://www.academia.edu/attachments/37752907/download_file?st=MTczMjk5MzEwOCw4LjIyMi4yMDguMTQ2&st=MTczMjk5MzEwNyw4LjIyMi4yMDguMTQ2&","bulk_download_file_name":"Relationship_Between_Angiotensin_Convert.pdf","bulk_download_url":"https://d1wqtxts1xzle7.cloudfront.net/37752907/ClinicalCancerResearch-libre.pdf?1432744951=\u0026response-content-disposition=attachment%3B+filename%3DRelationship_Between_Angiotensin_Convert.pdf\u0026Expires=1732996707\u0026Signature=Fl5nS3N8kfZYAJOPLLYoM55L7rdQl4k6lAHFUAV9OOCzw0EkzEX1GoovFfr0mjAnSLewM3g7UXRdrLM8nNTTCY1~yMCLjhNnOZe0z0u-nF8DvDyMVlf9Db8btqYQ7CNNOwpKoacGD5iWUuJVZH9wkE81RbxRt6dj8M3-HYl1ZwncSk26EBrZmWT8b-RjB1HvZdbXctjhhVw3xrdIsGUryEUeARIwvXcT4ZvdtBkhSUEqzL1QiznSo~DSnRuwV6XbSCG~lworMaMApepnpzdCDQ-~7BZRULrxki7H4hBKw3JTA2MHtAV79uYTP~fS4kocoRYVBGHYAWb96E~n0C7oUA__\u0026Key-Pair-Id=APKAJLOHF5GGSLRBV4ZA"}],"slug":"Relationship_Between_Angiotensin_Converting_Enzyme_Gene_Polymorphism_and_Body_Composition_Functional_Performance_and_Blood_Biomarkers_in_Advanced_Cancer_Patients","translated_slug":"","page_count":6,"language":"en","content_type":"Work","owner":{"id":31600762,"first_name":"Nancy","middle_initials":null,"last_name":"Hamel","page_name":"NancyHamel","domain_name":"independent","created_at":"2015-05-27T09:36:34.282-07:00","display_name":"Nancy Hamel","url":"https://independent.academia.edu/NancyHamel"},"attachments":[{"id":37752907,"title":"","file_type":"pdf","scribd_thumbnail_url":"https://attachments.academia-assets.com/37752907/thumbnails/1.jpg","file_name":"ClinicalCancerResearch.pdf","download_url":"https://www.academia.edu/attachments/37752907/download_file?st=MTczMjk5MzEwOCw4LjIyMi4yMDguMTQ2&st=MTczMjk5MzEwNyw4LjIyMi4yMDguMTQ2&","bulk_download_file_name":"Relationship_Between_Angiotensin_Convert.pdf","bulk_download_url":"https://d1wqtxts1xzle7.cloudfront.net/37752907/ClinicalCancerResearch-libre.pdf?1432744951=\u0026response-content-disposition=attachment%3B+filename%3DRelationship_Between_Angiotensin_Convert.pdf\u0026Expires=1732996707\u0026Signature=Fl5nS3N8kfZYAJOPLLYoM55L7rdQl4k6lAHFUAV9OOCzw0EkzEX1GoovFfr0mjAnSLewM3g7UXRdrLM8nNTTCY1~yMCLjhNnOZe0z0u-nF8DvDyMVlf9Db8btqYQ7CNNOwpKoacGD5iWUuJVZH9wkE81RbxRt6dj8M3-HYl1ZwncSk26EBrZmWT8b-RjB1HvZdbXctjhhVw3xrdIsGUryEUeARIwvXcT4ZvdtBkhSUEqzL1QiznSo~DSnRuwV6XbSCG~lworMaMApepnpzdCDQ-~7BZRULrxki7H4hBKw3JTA2MHtAV79uYTP~fS4kocoRYVBGHYAWb96E~n0C7oUA__\u0026Key-Pair-Id=APKAJLOHF5GGSLRBV4ZA"}],"research_interests":[{"id":100336,"name":"Body Composition","url":"https://www.academia.edu/Documents/in/Body_Composition"},{"id":306990,"name":"Gene Polymorphism","url":"https://www.academia.edu/Documents/in/Gene_Polymorphism"},{"id":532278,"name":"Cancer Patient","url":"https://www.academia.edu/Documents/in/Cancer_Patient"},{"id":719604,"name":"Angiotensin Converting Enzyme","url":"https://www.academia.edu/Documents/in/Angiotensin_Converting_Enzyme"}],"urls":[{"id":4818033,"url":"http://artsandscience1.concordia.ca/exsci/documents/ClinicalCancerResearch.pdf"}]}, dispatcherData: dispatcherData }); $(this).data('initialized', true); } }); $a.trackClickSource(".js-work-strip-work-link", "profile_work_strip") }); </script> <div class="js-work-strip profile--work_container" data-work-id="12632515"><div class="profile--work_thumbnail hidden-xs"><a class="js-work-strip-work-link" data-click-track="profile-work-strip-thumbnail" href="https://www.academia.edu/12632515/Mutation_analysis_of_PALB2_in_BRCA1_and_BRCA2_negative_breast_and_or_ovarian_cancer_families_from_Eastern_Ontario_Canada"><img alt="Research paper thumbnail of Mutation analysis of PALB2 in BRCA1 and BRCA2-negative breast and/or ovarian cancer families from Eastern Ontario, Canada" class="work-thumbnail" src="https://attachments.academia-assets.com/46037477/thumbnails/1.jpg" /></a></div><div class="wp-workCard wp-workCard_itemContainer"><div class="wp-workCard_item wp-workCard--title"><a class="js-work-strip-work-link text-gray-darker" data-click-track="profile-work-strip-title" href="https://www.academia.edu/12632515/Mutation_analysis_of_PALB2_in_BRCA1_and_BRCA2_negative_breast_and_or_ovarian_cancer_families_from_Eastern_Ontario_Canada">Mutation analysis of PALB2 in BRCA1 and BRCA2-negative breast and/or ovarian cancer families from Eastern Ontario, Canada</a></div><div class="wp-workCard_item"><span>Hereditary Cancer in Clinical Practice</span><span>, 2014</span></div><div class="wp-workCard_item wp-workCard--actions"><span class="work-strip-bookmark-button-container"></span><a id="90a561bb0432e5de0a05c175987622f2" class="wp-workCard--action" rel="nofollow" data-click-track="profile-work-strip-download" data-download="{"attachment_id":46037477,"asset_id":12632515,"asset_type":"Work","button_location":"profile"}" href="https://www.academia.edu/attachments/46037477/download_file?st=MTczMjk5MzEwOCw4LjIyMi4yMDguMTQ2&st=MTczMjk5MzEwOCw4LjIyMi4yMDguMTQ2&s=profile"><span><i class="fa fa-arrow-down"></i></span><span>Download</span></a><span class="wp-workCard--action visible-if-viewed-by-owner inline-block" style="display: none;"><span class="js-profile-work-strip-edit-button-wrapper profile-work-strip-edit-button-wrapper" data-work-id="12632515"><a class="js-profile-work-strip-edit-button" tabindex="0"><span><i class="fa fa-pencil"></i></span><span>Edit</span></a></span></span><span id="work-strip-rankings-button-container"></span></div><div class="wp-workCard_item wp-workCard--stats"><span><span><span class="js-view-count view-count u-mr2x" data-work-id="12632515"><i class="fa fa-spinner fa-spin"></i></span><script>$(function () { var workId = 12632515; 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dispatcherData = { dispatcher: window.WowProfile.dispatcher, downloadLinkId: "90a561bb0432e5de0a05c175987622f2" } } $('.js-work-strip[data-work-id=12632515]').each(function() { if (!$(this).data('initialized')) { new WowProfile.WorkStripView({ el: this, workJSON: {"id":12632515,"title":"Mutation analysis of PALB2 in BRCA1 and BRCA2-negative breast and/or ovarian cancer families from Eastern Ontario, Canada","translated_title":"","metadata":{"grobid_abstract":"Background: PALB2 has emerged as a breast cancer susceptibility gene. Mutations in PALB2 have been identified in almost all breast cancer populations studied to date, but the rarity of these mutations and lack of information regarding their penetrance makes genetic counseling for these families challenging. We studied BRCA1/2 -negative breast and/or ovarian cancer families to a) assess the contribution of PALB2 mutations in this series and b) identify clinical, pathological and family history characteristics that might make PALB2 screening more efficient. Methods: The coding region of the PALB2 gene was analyzed in 175 probands with family histories of breast and/or ovarian cancer ascertained from a single Canadian institution in Eastern Ontario.","publication_date":{"day":null,"month":null,"year":2014,"errors":{}},"publication_name":"Hereditary Cancer in Clinical Practice","grobid_abstract_attachment_id":46037477},"translated_abstract":null,"internal_url":"https://www.academia.edu/12632515/Mutation_analysis_of_PALB2_in_BRCA1_and_BRCA2_negative_breast_and_or_ovarian_cancer_families_from_Eastern_Ontario_Canada","translated_internal_url":"","created_at":"2015-05-27T09:37:35.865-07:00","preview_url":null,"current_user_can_edit":null,"current_user_is_owner":null,"owner_id":31600762,"coauthors_can_edit":true,"document_type":"paper","co_author_tags":[],"downloadable_attachments":[{"id":46037477,"title":"","file_type":"pdf","scribd_thumbnail_url":"https://attachments.academia-assets.com/46037477/thumbnails/1.jpg","file_name":"Mutation_analysis_of_PALB2_in_BRCA1_and_20160529-19853-193wakb.pdf","download_url":"https://www.academia.edu/attachments/46037477/download_file?st=MTczMjk5MzEwOCw4LjIyMi4yMDguMTQ2&st=MTczMjk5MzEwOCw4LjIyMi4yMDguMTQ2&","bulk_download_file_name":"Mutation_analysis_of_PALB2_in_BRCA1_and.pdf","bulk_download_url":"https://d1wqtxts1xzle7.cloudfront.net/46037477/Mutation_analysis_of_PALB2_in_BRCA1_and_20160529-19853-193wakb-libre.pdf?1464514406=\u0026response-content-disposition=attachment%3B+filename%3DMutation_analysis_of_PALB2_in_BRCA1_and.pdf\u0026Expires=1732996707\u0026Signature=EYPO3j~EQOCQqM9kV3QKVr36ZFav8-cTIrz1B9mAkiscX24GEp0yRsSKiNS-AyTlcINJaR0ty6toV7tknFjkfar9Y6wH-WP8eXxHjeOurw~J197w6WmYWQubBOQKOJsQHs7wmD8LBUitLQtYPdvBJAtLhWJ2XB8yYxrvrxIFX0txBM23z7nvrQOiXesWsQUWLzw~-BaWZ32Ne-36jyffkRVm1XSChMQl3yE7ckN65Cpo8xew~tRAHmVwUnJ~hla1EqcoCpwVXRBtohsYX8jQ1A-qnPdIcjnVJKVs58~gwQwTrsutOkTa0KmNWmeFnRRNmW-Mv5FMQg8cUjZYC-riuw__\u0026Key-Pair-Id=APKAJLOHF5GGSLRBV4ZA"}],"slug":"Mutation_analysis_of_PALB2_in_BRCA1_and_BRCA2_negative_breast_and_or_ovarian_cancer_families_from_Eastern_Ontario_Canada","translated_slug":"","page_count":9,"language":"en","content_type":"Work","owner":{"id":31600762,"first_name":"Nancy","middle_initials":null,"last_name":"Hamel","page_name":"NancyHamel","domain_name":"independent","created_at":"2015-05-27T09:36:34.282-07:00","display_name":"Nancy Hamel","url":"https://independent.academia.edu/NancyHamel"},"attachments":[{"id":46037477,"title":"","file_type":"pdf","scribd_thumbnail_url":"https://attachments.academia-assets.com/46037477/thumbnails/1.jpg","file_name":"Mutation_analysis_of_PALB2_in_BRCA1_and_20160529-19853-193wakb.pdf","download_url":"https://www.academia.edu/attachments/46037477/download_file?st=MTczMjk5MzEwOCw4LjIyMi4yMDguMTQ2&st=MTczMjk5MzEwOCw4LjIyMi4yMDguMTQ2&","bulk_download_file_name":"Mutation_analysis_of_PALB2_in_BRCA1_and.pdf","bulk_download_url":"https://d1wqtxts1xzle7.cloudfront.net/46037477/Mutation_analysis_of_PALB2_in_BRCA1_and_20160529-19853-193wakb-libre.pdf?1464514406=\u0026response-content-disposition=attachment%3B+filename%3DMutation_analysis_of_PALB2_in_BRCA1_and.pdf\u0026Expires=1732996708\u0026Signature=P32T0X~SaxUjJmW9CjuuzN-jdxVbj6wbqzhHfr6J08Tfa~YuUc~AvwtC2lTkiEijggxOwfQYKFytjQ7XDE0bS2pHC8I4iAFysO9ABrfJJ~97m2jH0HaBZjXUFYtOaLWqvkB2cvt93zi9zNv2DdvYZjcXjM9PwI38eLDZ1hoQXR97QAMrGoi4TgSBuGOgONalGepfrqpkHSlSrSOtIhrLwX4zap1XfIAEhZ8aJOmi3y~Vnd5JRW0bx5IR8lX7j4CiUaMxlUDIm4~k9zlRtRDZdEHbbXjKNK9SuyYrlBQv41uabXnLKD-RU2JrixYCoLnyMwHfbv5GeZAMpmjXhFXU4A__\u0026Key-Pair-Id=APKAJLOHF5GGSLRBV4ZA"}],"research_interests":[],"urls":[]}, dispatcherData: dispatcherData }); $(this).data('initialized', true); } }); $a.trackClickSource(".js-work-strip-work-link", "profile_work_strip") }); </script> <div class="js-work-strip profile--work_container" data-work-id="12632514"><div class="profile--work_thumbnail hidden-xs"><a class="js-work-strip-work-link" data-click-track="profile-work-strip-thumbnail" href="https://www.academia.edu/12632514/Biallelic_deleterious_BRCA1_mutations_in_a_woman_with_early_onset_ovarian_cancer"><img alt="Research paper thumbnail of Biallelic deleterious BRCA1 mutations in a woman with early-onset ovarian cancer" class="work-thumbnail" src="https://a.academia-assets.com/images/blank-paper.jpg" /></a></div><div class="wp-workCard wp-workCard_itemContainer"><div class="wp-workCard_item wp-workCard--title"><a class="js-work-strip-work-link text-gray-darker" data-click-track="profile-work-strip-title" href="https://www.academia.edu/12632514/Biallelic_deleterious_BRCA1_mutations_in_a_woman_with_early_onset_ovarian_cancer">Biallelic deleterious BRCA1 mutations in a woman with early-onset ovarian cancer</a></div><div class="wp-workCard_item"><span>Cancer Discovery</span><span>, 2013</span></div><div class="wp-workCard_item"><span class="js-work-more-abstract-truncated">BRCA1 and BRCA2 are the most important breast and ovarian cancer susceptibility genes. Biallelic ...</span><a class="js-work-more-abstract" data-broccoli-component="work_strip.more_abstract" data-click-track="profile-work-strip-more-abstract" href="javascript:;"><span> more </span><span><i class="fa fa-caret-down"></i></span></a><span class="js-work-more-abstract-untruncated hidden">BRCA1 and BRCA2 are the most important breast and ovarian cancer susceptibility genes. Biallelic mutations in BRCA2 can lead to Fanconi anemia and predisposition to cancers, whereas biallelic BRCA1 mutations have not been confirmed, presumably because one wild-type BRCA1 allele is required during embryogenesis. This study describes an individual who was diagnosed with ovarian carcinoma at age 28 and found to have one allele with a deleterious mutation in BRCA1, c.2457delC (p.Asp821Ilefs*25), and a second allele with a variant of unknown significance in BRCA1, c.5207T&amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;gt;C (p.Val1736Ala). Medical records revealed short stature, microcephaly, developmental delay, and significant toxicity from chemotherapy. BRCA1 p.Val1736Ala cosegregated with cancer in multiple families, associated tumors showed loss of wild-type BRCA1, and BRCA1 p.Val1736Ala showed reduced DNA damage localization. These findings represent the first validated example of biallelic deleterious human BRCA1 mutations and have implications for the interpretation of genetic test results. Accurate assessment of genetic testing data for BRCA1 mutations is essential for clinical monitoring and treatment strategies. Here, we report the fi rst validated example of an individual with biallelic BRCA1 mutations, early-onset ovarian cancer, and clinically significant hypersensitivity to chemotherapy.</span></div><div class="wp-workCard_item wp-workCard--actions"><span class="work-strip-bookmark-button-container"></span><span class="wp-workCard--action visible-if-viewed-by-owner inline-block" style="display: none;"><span class="js-profile-work-strip-edit-button-wrapper profile-work-strip-edit-button-wrapper" data-work-id="12632514"><a class="js-profile-work-strip-edit-button" tabindex="0"><span><i class="fa fa-pencil"></i></span><span>Edit</span></a></span></span><span id="work-strip-rankings-button-container"></span></div><div class="wp-workCard_item wp-workCard--stats"><span><span><span class="js-view-count view-count u-mr2x" data-work-id="12632514"><i class="fa fa-spinner fa-spin"></i></span><script>$(function () { var workId = 12632514; window.Academia.workViewCountsFetcher.queue(workId, function (count) { var description = window.$h.commaizeInt(count) + " " + window.$h.pluralize(count, 'View'); $(".js-view-count[data-work-id=12632514]").text(description); $(".js-view-count[data-work-id=12632514]").attr('title', description).tooltip(); }); });</script></span></span><span><span class="percentile-widget hidden"><span class="u-mr2x work-percentile"></span></span><script>$(function () { var workId = 12632514; window.Academia.workPercentilesFetcher.queue(workId, function (percentileText) { var container = $(".js-work-strip[data-work-id='12632514']"); container.find('.work-percentile').text(percentileText.charAt(0).toUpperCase() + percentileText.slice(1)); container.find('.percentile-widget').show(); container.find('.percentile-widget').removeClass('hidden'); }); });</script></span><span><script>$(function() { new Works.PaperRankView({ workId: 12632514, container: "", }); });</script></span></div><div id="work-strip-premium-row-container"></div></div></div><script> require.config({ waitSeconds: 90 })(["https://a.academia-assets.com/assets/wow_profile-f77ea15d77ce96025a6048a514272ad8becbad23c641fc2b3bd6e24ca6ff1932.js","https://a.academia-assets.com/assets/work_edit-ad038b8c047c1a8d4fa01b402d530ff93c45fee2137a149a4a5398bc8ad67560.js"], function() { // from javascript_helper.rb var dispatcherData = {} if (false){ window.WowProfile.dispatcher = window.WowProfile.dispatcher || _.clone(Backbone.Events); dispatcherData = { dispatcher: window.WowProfile.dispatcher, downloadLinkId: "-1" } } $('.js-work-strip[data-work-id=12632514]').each(function() { if (!$(this).data('initialized')) { new WowProfile.WorkStripView({ el: this, workJSON: {"id":12632514,"title":"Biallelic deleterious BRCA1 mutations in a woman with early-onset ovarian cancer","translated_title":"","metadata":{"abstract":"BRCA1 and BRCA2 are the most important breast and ovarian cancer susceptibility genes. Biallelic mutations in BRCA2 can lead to Fanconi anemia and predisposition to cancers, whereas biallelic BRCA1 mutations have not been confirmed, presumably because one wild-type BRCA1 allele is required during embryogenesis. This study describes an individual who was diagnosed with ovarian carcinoma at age 28 and found to have one allele with a deleterious mutation in BRCA1, c.2457delC (p.Asp821Ilefs*25), and a second allele with a variant of unknown significance in BRCA1, c.5207T\u0026amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;gt;C (p.Val1736Ala). Medical records revealed short stature, microcephaly, developmental delay, and significant toxicity from chemotherapy. BRCA1 p.Val1736Ala cosegregated with cancer in multiple families, associated tumors showed loss of wild-type BRCA1, and BRCA1 p.Val1736Ala showed reduced DNA damage localization. These findings represent the first validated example of biallelic deleterious human BRCA1 mutations and have implications for the interpretation of genetic test results. Accurate assessment of genetic testing data for BRCA1 mutations is essential for clinical monitoring and treatment strategies. Here, we report the fi rst validated example of an individual with biallelic BRCA1 mutations, early-onset ovarian cancer, and clinically significant hypersensitivity to chemotherapy.","publication_date":{"day":null,"month":null,"year":2013,"errors":{}},"publication_name":"Cancer Discovery"},"translated_abstract":"BRCA1 and BRCA2 are the most important breast and ovarian cancer susceptibility genes. Biallelic mutations in BRCA2 can lead to Fanconi anemia and predisposition to cancers, whereas biallelic BRCA1 mutations have not been confirmed, presumably because one wild-type BRCA1 allele is required during embryogenesis. This study describes an individual who was diagnosed with ovarian carcinoma at age 28 and found to have one allele with a deleterious mutation in BRCA1, c.2457delC (p.Asp821Ilefs*25), and a second allele with a variant of unknown significance in BRCA1, c.5207T\u0026amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;gt;C (p.Val1736Ala). Medical records revealed short stature, microcephaly, developmental delay, and significant toxicity from chemotherapy. BRCA1 p.Val1736Ala cosegregated with cancer in multiple families, associated tumors showed loss of wild-type BRCA1, and BRCA1 p.Val1736Ala showed reduced DNA damage localization. These findings represent the first validated example of biallelic deleterious human BRCA1 mutations and have implications for the interpretation of genetic test results. Accurate assessment of genetic testing data for BRCA1 mutations is essential for clinical monitoring and treatment strategies. Here, we report the fi rst validated example of an individual with biallelic BRCA1 mutations, early-onset ovarian cancer, and clinically significant hypersensitivity to chemotherapy.","internal_url":"https://www.academia.edu/12632514/Biallelic_deleterious_BRCA1_mutations_in_a_woman_with_early_onset_ovarian_cancer","translated_internal_url":"","created_at":"2015-05-27T09:37:35.761-07:00","preview_url":null,"current_user_can_edit":null,"current_user_is_owner":null,"owner_id":31600762,"coauthors_can_edit":true,"document_type":"paper","co_author_tags":[],"downloadable_attachments":[],"slug":"Biallelic_deleterious_BRCA1_mutations_in_a_woman_with_early_onset_ovarian_cancer","translated_slug":"","page_count":null,"language":"en","content_type":"Work","owner":{"id":31600762,"first_name":"Nancy","middle_initials":null,"last_name":"Hamel","page_name":"NancyHamel","domain_name":"independent","created_at":"2015-05-27T09:36:34.282-07:00","display_name":"Nancy Hamel","url":"https://independent.academia.edu/NancyHamel"},"attachments":[],"research_interests":[{"id":74780,"name":"Mutation","url":"https://www.academia.edu/Documents/in/Mutation"},{"id":81151,"name":"Cancer drug discovery","url":"https://www.academia.edu/Documents/in/Cancer_drug_discovery"}],"urls":[]}, dispatcherData: dispatcherData }); $(this).data('initialized', true); } }); $a.trackClickSource(".js-work-strip-work-link", "profile_work_strip") }); </script> <div class="js-work-strip profile--work_container" data-work-id="12632513"><div class="profile--work_thumbnail hidden-xs"><a class="js-work-strip-work-link" data-click-track="profile-work-strip-thumbnail" href="https://www.academia.edu/12632513/Genetic_architecture_of_prostate_cancer_in_the_Ashkenazi_Jewish_population"><img alt="Research paper thumbnail of Genetic architecture of prostate cancer in the Ashkenazi Jewish population" class="work-thumbnail" src="https://attachments.academia-assets.com/46037443/thumbnails/1.jpg" /></a></div><div class="wp-workCard wp-workCard_itemContainer"><div class="wp-workCard_item wp-workCard--title"><a class="js-work-strip-work-link text-gray-darker" data-click-track="profile-work-strip-title" href="https://www.academia.edu/12632513/Genetic_architecture_of_prostate_cancer_in_the_Ashkenazi_Jewish_population">Genetic architecture of prostate cancer in the Ashkenazi Jewish population</a></div><div class="wp-workCard_item"><span>British Journal of Cancer</span><span>, 2011</span></div><div class="wp-workCard_item wp-workCard--actions"><span class="work-strip-bookmark-button-container"></span><a id="e25b09da5ce6e03a0e52a84695a5607c" class="wp-workCard--action" rel="nofollow" data-click-track="profile-work-strip-download" data-download="{"attachment_id":46037443,"asset_id":12632513,"asset_type":"Work","button_location":"profile"}" href="https://www.academia.edu/attachments/46037443/download_file?st=MTczMjk5MzEwOCw4LjIyMi4yMDguMTQ2&st=MTczMjk5MzEwOCw4LjIyMi4yMDguMTQ2&s=profile"><span><i class="fa fa-arrow-down"></i></span><span>Download</span></a><span class="wp-workCard--action visible-if-viewed-by-owner inline-block" style="display: none;"><span class="js-profile-work-strip-edit-button-wrapper profile-work-strip-edit-button-wrapper" data-work-id="12632513"><a class="js-profile-work-strip-edit-button" tabindex="0"><span><i class="fa fa-pencil"></i></span><span>Edit</span></a></span></span><span id="work-strip-rankings-button-container"></span></div><div class="wp-workCard_item wp-workCard--stats"><span><span><span class="js-view-count view-count u-mr2x" data-work-id="12632513"><i class="fa fa-spinner fa-spin"></i></span><script>$(function () { var workId = 12632513; window.Academia.workViewCountsFetcher.queue(workId, function (count) { var description = window.$h.commaizeInt(count) + " " + window.$h.pluralize(count, 'View'); $(".js-view-count[data-work-id=12632513]").text(description); $(".js-view-count[data-work-id=12632513]").attr('title', description).tooltip(); }); });</script></span></span><span><span class="percentile-widget hidden"><span class="u-mr2x work-percentile"></span></span><script>$(function () { var workId = 12632513; window.Academia.workPercentilesFetcher.queue(workId, function (percentileText) { var container = $(".js-work-strip[data-work-id='12632513']"); container.find('.work-percentile').text(percentileText.charAt(0).toUpperCase() + percentileText.slice(1)); container.find('.percentile-widget').show(); container.find('.percentile-widget').removeClass('hidden'); }); });</script></span><span><script>$(function() { new Works.PaperRankView({ workId: 12632513, container: "", }); });</script></span></div><div id="work-strip-premium-row-container"></div></div></div><script> require.config({ waitSeconds: 90 })(["https://a.academia-assets.com/assets/wow_profile-f77ea15d77ce96025a6048a514272ad8becbad23c641fc2b3bd6e24ca6ff1932.js","https://a.academia-assets.com/assets/work_edit-ad038b8c047c1a8d4fa01b402d530ff93c45fee2137a149a4a5398bc8ad67560.js"], function() { // from javascript_helper.rb var dispatcherData = {} if (true){ window.WowProfile.dispatcher = window.WowProfile.dispatcher || _.clone(Backbone.Events); dispatcherData = { dispatcher: window.WowProfile.dispatcher, downloadLinkId: "e25b09da5ce6e03a0e52a84695a5607c" } } $('.js-work-strip[data-work-id=12632513]').each(function() { if (!$(this).data('initialized')) { new WowProfile.WorkStripView({ el: this, workJSON: {"id":12632513,"title":"Genetic architecture of prostate cancer in the Ashkenazi Jewish population","translated_title":"","metadata":{"grobid_abstract":"BACKGROUND: Recently, numerous prostate cancer risk loci have been identified, some of which show association in specific populations. No study has yet investigated whether these single nucleotide polymorphisms (SNPs) are associated with prostate cancer in the Ashkenazi Jewish (AJ) population. METHODS: A total of 29 known prostate cancer risk SNPs were genotyped in 963 prostate cancer cases and 613 controls of AJ ancestry. These data were combined with data from 1241 additional Ashkenazi controls and tested for association with prostate cancer. Correction for multiple testing was performed using the false discovery rate procedure. RESULTS: Ten of twenty-three SNPs that passed quality control procedures were associated with prostate cancer risk at a false discovery rate of 5%. Of these, nine were originally discovered in studies of individuals of European ancestry. Based on power calculations, the number of significant associations observed is not surprising. CONCLUSION: We see no convincing evidence that the genetic architecture of prostate cancer in the AJ population is substantively different from that observed in other populations of European ancestry.","publication_date":{"day":null,"month":null,"year":2011,"errors":{}},"publication_name":"British Journal of Cancer","grobid_abstract_attachment_id":46037443},"translated_abstract":null,"internal_url":"https://www.academia.edu/12632513/Genetic_architecture_of_prostate_cancer_in_the_Ashkenazi_Jewish_population","translated_internal_url":"","created_at":"2015-05-27T09:37:35.652-07:00","preview_url":null,"current_user_can_edit":null,"current_user_is_owner":null,"owner_id":31600762,"coauthors_can_edit":true,"document_type":"paper","co_author_tags":[],"downloadable_attachments":[{"id":46037443,"title":"","file_type":"pdf","scribd_thumbnail_url":"https://attachments.academia-assets.com/46037443/thumbnails/1.jpg","file_name":"Genetic_architecture_of_prostate_cancer_20160529-32739-1w0co26.pdf","download_url":"https://www.academia.edu/attachments/46037443/download_file?st=MTczMjk5MzEwOCw4LjIyMi4yMDguMTQ2&st=MTczMjk5MzEwOCw4LjIyMi4yMDguMTQ2&","bulk_download_file_name":"Genetic_architecture_of_prostate_cancer.pdf","bulk_download_url":"https://d1wqtxts1xzle7.cloudfront.net/46037443/Genetic_architecture_of_prostate_cancer_20160529-32739-1w0co26-libre.pdf?1464514406=\u0026response-content-disposition=attachment%3B+filename%3DGenetic_architecture_of_prostate_cancer.pdf\u0026Expires=1732996708\u0026Signature=NGp~xpxizP0nT6ujbuHSXklRbYSV86RCmXPW4KNjZ-usIa4JHaSXRfZz5Erwqke7Z3BtJknh5gjXtOB5n~yxbNIdhA-Fs5Cz0W5wx~q7BXODQeSapAAxSPlX2gpit49OJQ4ZlzcCem7QfP4pzgPSiqSUuSMG8yLw-Pk6p2tLB9rPR3tXDgqMkatrz-67EPu0netSaXR3uD2GipgUku~Q-1gj1a5EsRCPfQ9f4Hf-0fNRKJaGHsHG-hB-VkzX6LAblZSAtZdncI7yfX3dSIgYs8Jhr5v~yQ5wIp3AesOHkuf9WInKcLwe6mtJIhHu5c9PjMhr0aPfs0Ni8JkavgEXZQ__\u0026Key-Pair-Id=APKAJLOHF5GGSLRBV4ZA"}],"slug":"Genetic_architecture_of_prostate_cancer_in_the_Ashkenazi_Jewish_population","translated_slug":"","page_count":6,"language":"en","content_type":"Work","owner":{"id":31600762,"first_name":"Nancy","middle_initials":null,"last_name":"Hamel","page_name":"NancyHamel","domain_name":"independent","created_at":"2015-05-27T09:36:34.282-07:00","display_name":"Nancy Hamel","url":"https://independent.academia.edu/NancyHamel"},"attachments":[{"id":46037443,"title":"","file_type":"pdf","scribd_thumbnail_url":"https://attachments.academia-assets.com/46037443/thumbnails/1.jpg","file_name":"Genetic_architecture_of_prostate_cancer_20160529-32739-1w0co26.pdf","download_url":"https://www.academia.edu/attachments/46037443/download_file?st=MTczMjk5MzEwOCw4LjIyMi4yMDguMTQ2&st=MTczMjk5MzEwOCw4LjIyMi4yMDguMTQ2&","bulk_download_file_name":"Genetic_architecture_of_prostate_cancer.pdf","bulk_download_url":"https://d1wqtxts1xzle7.cloudfront.net/46037443/Genetic_architecture_of_prostate_cancer_20160529-32739-1w0co26-libre.pdf?1464514406=\u0026response-content-disposition=attachment%3B+filename%3DGenetic_architecture_of_prostate_cancer.pdf\u0026Expires=1732996708\u0026Signature=NGp~xpxizP0nT6ujbuHSXklRbYSV86RCmXPW4KNjZ-usIa4JHaSXRfZz5Erwqke7Z3BtJknh5gjXtOB5n~yxbNIdhA-Fs5Cz0W5wx~q7BXODQeSapAAxSPlX2gpit49OJQ4ZlzcCem7QfP4pzgPSiqSUuSMG8yLw-Pk6p2tLB9rPR3tXDgqMkatrz-67EPu0netSaXR3uD2GipgUku~Q-1gj1a5EsRCPfQ9f4Hf-0fNRKJaGHsHG-hB-VkzX6LAblZSAtZdncI7yfX3dSIgYs8Jhr5v~yQ5wIp3AesOHkuf9WInKcLwe6mtJIhHu5c9PjMhr0aPfs0Ni8JkavgEXZQ__\u0026Key-Pair-Id=APKAJLOHF5GGSLRBV4ZA"}],"research_interests":[{"id":12980,"name":"Prostate Cancer","url":"https://www.academia.edu/Documents/in/Prostate_Cancer"},{"id":24731,"name":"Apoptosis","url":"https://www.academia.edu/Documents/in/Apoptosis"},{"id":33319,"name":"Nature","url":"https://www.academia.edu/Documents/in/Nature"},{"id":38650,"name":"Cell Division","url":"https://www.academia.edu/Documents/in/Cell_Division"},{"id":52489,"name":"Adipose tissue","url":"https://www.academia.edu/Documents/in/Adipose_tissue"},{"id":121508,"name":"Jews","url":"https://www.academia.edu/Documents/in/Jews"},{"id":206605,"name":"Ashkenazi Jews","url":"https://www.academia.edu/Documents/in/Ashkenazi_Jews"},{"id":372410,"name":"Genotype","url":"https://www.academia.edu/Documents/in/Genotype"},{"id":553283,"name":"Cancer cells","url":"https://www.academia.edu/Documents/in/Cancer_cells"},{"id":561981,"name":"European Continental Ancestry Group","url":"https://www.academia.edu/Documents/in/European_Continental_Ancestry_Group"},{"id":1010893,"name":"Cancers","url":"https://www.academia.edu/Documents/in/Cancers"},{"id":1819399,"name":"Case Control Studies","url":"https://www.academia.edu/Documents/in/Case_Control_Studies"}],"urls":[]}, dispatcherData: dispatcherData }); $(this).data('initialized', true); } }); $a.trackClickSource(".js-work-strip-work-link", "profile_work_strip") }); </script> <div class="js-work-strip profile--work_container" data-work-id="12632512"><div class="profile--work_thumbnail hidden-xs"><a class="js-work-strip-work-link" data-click-track="profile-work-strip-thumbnail" href="https://www.academia.edu/12632512/Germ_line_and_somatic_DICER1_mutations_in_pineoblastoma"><img alt="Research paper thumbnail of Germ-line and somatic DICER1 mutations in pineoblastoma" class="work-thumbnail" src="https://a.academia-assets.com/images/blank-paper.jpg" /></a></div><div class="wp-workCard wp-workCard_itemContainer"><div class="wp-workCard_item wp-workCard--title"><a class="js-work-strip-work-link text-gray-darker" data-click-track="profile-work-strip-title" href="https://www.academia.edu/12632512/Germ_line_and_somatic_DICER1_mutations_in_pineoblastoma">Germ-line and somatic DICER1 mutations in pineoblastoma</a></div><div class="wp-workCard_item"><span>Acta Neuropathologica</span><span>, 2014</span></div><div class="wp-workCard_item"><span class="js-work-more-abstract-truncated">Germ-line RB-1 mutations predispose to pineoblastoma (PinB), but other predisposing genetic facto...</span><a class="js-work-more-abstract" data-broccoli-component="work_strip.more_abstract" data-click-track="profile-work-strip-more-abstract" href="javascript:;"><span> more </span><span><i class="fa fa-caret-down"></i></span></a><span class="js-work-more-abstract-untruncated hidden">Germ-line RB-1 mutations predispose to pineoblastoma (PinB), but other predisposing genetic factors are not well established. We recently identified a germ-line DICER1 mutation in a child with a PinB. This was accompanied by loss of heterozygosity (LOH) of the wild-type allele within the tumour. We set out to establish the prevalence of DICER1 mutations in an opportunistically ascertained series of PinBs. Twenty-one PinB cases were studied: Eighteen cases had not undergone previous testing for DICER1 mutations; three patients were known carriers of germ-line DICER1 mutations. The eighteen PinBs were sequenced by Sanger and/or Fluidigm-based next-generation sequencing to identify DICER1 mutations in blood gDNA and/or tumour gDNA. Testing for somatic DICER1 mutations was also conducted on one case with a known germ-line DICER1 mutation. From the eighteen PinBs, we identified four deleterious DICER1 mutations, three of which were germ line in origin, and one for which a germ line versus somatic origin could not be determined; in all four, the second allele was also inactivated leading to complete loss of DICER1 protein. No somatic DICER1 RNase IIIb mutations were identified. One PinB arising in a germ-line DICER1 mutation carrier was found to have LOH. This study suggests that germ-line DICER1 mutations make a clinically significant contribution to PinB, establishing DICER1 as an important susceptibility gene for PinB and demonstrates PinB to be a manifestation of a germ-line DICER1 mutation. The means by which the second allele is inactivated may differ from other DICER1-related tumours.</span></div><div class="wp-workCard_item wp-workCard--actions"><span class="work-strip-bookmark-button-container"></span><span class="wp-workCard--action visible-if-viewed-by-owner inline-block" style="display: none;"><span class="js-profile-work-strip-edit-button-wrapper profile-work-strip-edit-button-wrapper" data-work-id="12632512"><a class="js-profile-work-strip-edit-button" tabindex="0"><span><i class="fa fa-pencil"></i></span><span>Edit</span></a></span></span><span id="work-strip-rankings-button-container"></span></div><div class="wp-workCard_item wp-workCard--stats"><span><span><span class="js-view-count view-count u-mr2x" data-work-id="12632512"><i class="fa fa-spinner fa-spin"></i></span><script>$(function () { var workId = 12632512; window.Academia.workViewCountsFetcher.queue(workId, function (count) { var description = window.$h.commaizeInt(count) + " " + window.$h.pluralize(count, 'View'); $(".js-view-count[data-work-id=12632512]").text(description); $(".js-view-count[data-work-id=12632512]").attr('title', description).tooltip(); }); });</script></span></span><span><span class="percentile-widget hidden"><span class="u-mr2x work-percentile"></span></span><script>$(function () { var workId = 12632512; window.Academia.workPercentilesFetcher.queue(workId, function (percentileText) { var container = $(".js-work-strip[data-work-id='12632512']"); container.find('.work-percentile').text(percentileText.charAt(0).toUpperCase() + percentileText.slice(1)); container.find('.percentile-widget').show(); container.find('.percentile-widget').removeClass('hidden'); }); });</script></span><span><script>$(function() { new Works.PaperRankView({ workId: 12632512, container: "", }); });</script></span></div><div id="work-strip-premium-row-container"></div></div></div><script> require.config({ waitSeconds: 90 })(["https://a.academia-assets.com/assets/wow_profile-f77ea15d77ce96025a6048a514272ad8becbad23c641fc2b3bd6e24ca6ff1932.js","https://a.academia-assets.com/assets/work_edit-ad038b8c047c1a8d4fa01b402d530ff93c45fee2137a149a4a5398bc8ad67560.js"], function() { // from javascript_helper.rb var dispatcherData = {} if (false){ window.WowProfile.dispatcher = window.WowProfile.dispatcher || _.clone(Backbone.Events); dispatcherData = { dispatcher: window.WowProfile.dispatcher, downloadLinkId: "-1" } } $('.js-work-strip[data-work-id=12632512]').each(function() { if (!$(this).data('initialized')) { new WowProfile.WorkStripView({ el: this, workJSON: {"id":12632512,"title":"Germ-line and somatic DICER1 mutations in pineoblastoma","translated_title":"","metadata":{"abstract":"Germ-line RB-1 mutations predispose to pineoblastoma (PinB), but other predisposing genetic factors are not well established. We recently identified a germ-line DICER1 mutation in a child with a PinB. This was accompanied by loss of heterozygosity (LOH) of the wild-type allele within the tumour. We set out to establish the prevalence of DICER1 mutations in an opportunistically ascertained series of PinBs. Twenty-one PinB cases were studied: Eighteen cases had not undergone previous testing for DICER1 mutations; three patients were known carriers of germ-line DICER1 mutations. The eighteen PinBs were sequenced by Sanger and/or Fluidigm-based next-generation sequencing to identify DICER1 mutations in blood gDNA and/or tumour gDNA. Testing for somatic DICER1 mutations was also conducted on one case with a known germ-line DICER1 mutation. From the eighteen PinBs, we identified four deleterious DICER1 mutations, three of which were germ line in origin, and one for which a germ line versus somatic origin could not be determined; in all four, the second allele was also inactivated leading to complete loss of DICER1 protein. No somatic DICER1 RNase IIIb mutations were identified. One PinB arising in a germ-line DICER1 mutation carrier was found to have LOH. This study suggests that germ-line DICER1 mutations make a clinically significant contribution to PinB, establishing DICER1 as an important susceptibility gene for PinB and demonstrates PinB to be a manifestation of a germ-line DICER1 mutation. The means by which the second allele is inactivated may differ from other DICER1-related tumours.","publication_date":{"day":null,"month":null,"year":2014,"errors":{}},"publication_name":"Acta Neuropathologica"},"translated_abstract":"Germ-line RB-1 mutations predispose to pineoblastoma (PinB), but other predisposing genetic factors are not well established. We recently identified a germ-line DICER1 mutation in a child with a PinB. This was accompanied by loss of heterozygosity (LOH) of the wild-type allele within the tumour. We set out to establish the prevalence of DICER1 mutations in an opportunistically ascertained series of PinBs. Twenty-one PinB cases were studied: Eighteen cases had not undergone previous testing for DICER1 mutations; three patients were known carriers of germ-line DICER1 mutations. The eighteen PinBs were sequenced by Sanger and/or Fluidigm-based next-generation sequencing to identify DICER1 mutations in blood gDNA and/or tumour gDNA. Testing for somatic DICER1 mutations was also conducted on one case with a known germ-line DICER1 mutation. From the eighteen PinBs, we identified four deleterious DICER1 mutations, three of which were germ line in origin, and one for which a germ line versus somatic origin could not be determined; in all four, the second allele was also inactivated leading to complete loss of DICER1 protein. No somatic DICER1 RNase IIIb mutations were identified. One PinB arising in a germ-line DICER1 mutation carrier was found to have LOH. This study suggests that germ-line DICER1 mutations make a clinically significant contribution to PinB, establishing DICER1 as an important susceptibility gene for PinB and demonstrates PinB to be a manifestation of a germ-line DICER1 mutation. The means by which the second allele is inactivated may differ from other DICER1-related tumours.","internal_url":"https://www.academia.edu/12632512/Germ_line_and_somatic_DICER1_mutations_in_pineoblastoma","translated_internal_url":"","created_at":"2015-05-27T09:37:35.539-07:00","preview_url":null,"current_user_can_edit":null,"current_user_is_owner":null,"owner_id":31600762,"coauthors_can_edit":true,"document_type":"paper","co_author_tags":[],"downloadable_attachments":[],"slug":"Germ_line_and_somatic_DICER1_mutations_in_pineoblastoma","translated_slug":"","page_count":null,"language":"en","content_type":"Work","owner":{"id":31600762,"first_name":"Nancy","middle_initials":null,"last_name":"Hamel","page_name":"NancyHamel","domain_name":"independent","created_at":"2015-05-27T09:36:34.282-07:00","display_name":"Nancy Hamel","url":"https://independent.academia.edu/NancyHamel"},"attachments":[],"research_interests":[{"id":22506,"name":"Adolescent","url":"https://www.academia.edu/Documents/in/Adolescent"},{"id":64933,"name":"Child","url":"https://www.academia.edu/Documents/in/Child"},{"id":133057,"name":"Young Adult","url":"https://www.academia.edu/Documents/in/Young_Adult"},{"id":134346,"name":"Infant","url":"https://www.academia.edu/Documents/in/Infant"},{"id":244814,"name":"Clinical Sciences","url":"https://www.academia.edu/Documents/in/Clinical_Sciences"},{"id":341087,"name":"Family Health","url":"https://www.academia.edu/Documents/in/Family_Health"},{"id":613283,"name":"Pineal Gland","url":"https://www.academia.edu/Documents/in/Pineal_Gland"},{"id":1239755,"name":"Neurosciences","url":"https://www.academia.edu/Documents/in/Neurosciences"},{"id":1425045,"name":"Brain Neoplasms","url":"https://www.academia.edu/Documents/in/Brain_Neoplasms"}],"urls":[]}, dispatcherData: dispatcherData }); $(this).data('initialized', true); } }); $a.trackClickSource(".js-work-strip-work-link", "profile_work_strip") }); </script> <div class="js-work-strip profile--work_container" data-work-id="12632511"><div class="profile--work_thumbnail hidden-xs"><a class="js-work-strip-work-link" data-click-track="profile-work-strip-thumbnail" href="https://www.academia.edu/12632511/Analysis_of_PALB2_FANCN_associated_breast_cancer_families"><img alt="Research paper thumbnail of Analysis of PALB2/FANCN-associated breast cancer families" class="work-thumbnail" src="https://attachments.academia-assets.com/46037466/thumbnails/1.jpg" /></a></div><div class="wp-workCard wp-workCard_itemContainer"><div class="wp-workCard_item wp-workCard--title"><a class="js-work-strip-work-link text-gray-darker" data-click-track="profile-work-strip-title" href="https://www.academia.edu/12632511/Analysis_of_PALB2_FANCN_associated_breast_cancer_families">Analysis of PALB2/FANCN-associated breast cancer families</a></div><div class="wp-workCard_item"><span>Proceedings of the National Academy of Sciences</span><span>, 2007</span></div><div class="wp-workCard_item wp-workCard--actions"><span class="work-strip-bookmark-button-container"></span><a id="d5e10bfa636257c65ab066e69abde3cb" class="wp-workCard--action" rel="nofollow" data-click-track="profile-work-strip-download" data-download="{"attachment_id":46037466,"asset_id":12632511,"asset_type":"Work","button_location":"profile"}" href="https://www.academia.edu/attachments/46037466/download_file?st=MTczMjk5MzEwOCw4LjIyMi4yMDguMTQ2&st=MTczMjk5MzEwOCw4LjIyMi4yMDguMTQ2&s=profile"><span><i class="fa fa-arrow-down"></i></span><span>Download</span></a><span class="wp-workCard--action visible-if-viewed-by-owner inline-block" style="display: none;"><span class="js-profile-work-strip-edit-button-wrapper profile-work-strip-edit-button-wrapper" data-work-id="12632511"><a class="js-profile-work-strip-edit-button" tabindex="0"><span><i class="fa fa-pencil"></i></span><span>Edit</span></a></span></span><span id="work-strip-rankings-button-container"></span></div><div class="wp-workCard_item wp-workCard--stats"><span><span><span class="js-view-count view-count u-mr2x" data-work-id="12632511"><i class="fa fa-spinner fa-spin"></i></span><script>$(function () { var workId = 12632511; window.Academia.workViewCountsFetcher.queue(workId, function (count) { var description = window.$h.commaizeInt(count) + " " + window.$h.pluralize(count, 'View'); $(".js-view-count[data-work-id=12632511]").text(description); $(".js-view-count[data-work-id=12632511]").attr('title', description).tooltip(); }); });</script></span></span><span><span class="percentile-widget hidden"><span class="u-mr2x work-percentile"></span></span><script>$(function () { var workId = 12632511; window.Academia.workPercentilesFetcher.queue(workId, function (percentileText) { var container = $(".js-work-strip[data-work-id='12632511']"); container.find('.work-percentile').text(percentileText.charAt(0).toUpperCase() + percentileText.slice(1)); container.find('.percentile-widget').show(); container.find('.percentile-widget').removeClass('hidden'); }); });</script></span><span><script>$(function() { new Works.PaperRankView({ workId: 12632511, container: "", }); });</script></span></div><div id="work-strip-premium-row-container"></div></div></div><script> require.config({ waitSeconds: 90 })(["https://a.academia-assets.com/assets/wow_profile-f77ea15d77ce96025a6048a514272ad8becbad23c641fc2b3bd6e24ca6ff1932.js","https://a.academia-assets.com/assets/work_edit-ad038b8c047c1a8d4fa01b402d530ff93c45fee2137a149a4a5398bc8ad67560.js"], function() { // from javascript_helper.rb var dispatcherData = {} if (true){ window.WowProfile.dispatcher = window.WowProfile.dispatcher || _.clone(Backbone.Events); dispatcherData = { dispatcher: window.WowProfile.dispatcher, downloadLinkId: "d5e10bfa636257c65ab066e69abde3cb" } } $('.js-work-strip[data-work-id=12632511]').each(function() { if (!$(this).data('initialized')) { new WowProfile.WorkStripView({ el: this, workJSON: {"id":12632511,"title":"Analysis of PALB2/FANCN-associated breast cancer families","translated_title":"","metadata":{"grobid_abstract":"No more than 戏30% of hereditary breast cancer has been accounted for by mutations in known genes. Most of these genes, such as BRCA1, BRCA2, TP53, CHEK2, ATM, and FANCJ/BRIP1, function in DNA repair, raising the possibility that germ line mutations in other genes that contribute to this process also predispose to breast cancer. Given its close relationship with BRCA2, PALB2 was sequenced in affected probands from 68 BRCA1/BRCA2-negative breast cancer families of Ashkenazi Jewish, French Canadian, or mixed ethnic descent. The average BRCAPRO score was 0.58. A truncating mutation (229delT) was identified in one family with a strong history of breast cancer (seven breast cancers in three female mutation carriers). This mutation and its associated breast cancers were characterized with another recently reported but unstudied mutation (2521delA) that is also associated with a strong family history of breast cancer. There was no loss of heterozygosity in tumors with either mutation. Moreover, comparative genomic hybridization analysis showed major similarities to that of BRCA2 tumors but with some notable differences, especially loss of 18q, a change that was previously unknown in BRCA2 tumors and less common in sporadic breast cancer. This study supports recent observations that PALB2 mutations are present, albeit not frequently, in breast cancer families. The apparently high penetrance noted in this study suggests that at least some PALB2 mutations are associated with a substantially increased risk for the disease.","publication_date":{"day":null,"month":null,"year":2007,"errors":{}},"publication_name":"Proceedings of the National Academy of Sciences","grobid_abstract_attachment_id":46037466},"translated_abstract":null,"internal_url":"https://www.academia.edu/12632511/Analysis_of_PALB2_FANCN_associated_breast_cancer_families","translated_internal_url":"","created_at":"2015-05-27T09:37:35.419-07:00","preview_url":null,"current_user_can_edit":null,"current_user_is_owner":null,"owner_id":31600762,"coauthors_can_edit":true,"document_type":"paper","co_author_tags":[],"downloadable_attachments":[{"id":46037466,"title":"","file_type":"pdf","scribd_thumbnail_url":"https://attachments.academia-assets.com/46037466/thumbnails/1.jpg","file_name":"Analysis_of_PALB2FANCN-associated_breast20160529-27068-1ithhnt.pdf","download_url":"https://www.academia.edu/attachments/46037466/download_file?st=MTczMjk5MzEwOCw4LjIyMi4yMDguMTQ2&st=MTczMjk5MzEwOCw4LjIyMi4yMDguMTQ2&","bulk_download_file_name":"Analysis_of_PALB2_FANCN_associated_breas.pdf","bulk_download_url":"https://d1wqtxts1xzle7.cloudfront.net/46037466/Analysis_of_PALB2FANCN-associated_breast20160529-27068-1ithhnt-libre.pdf?1464514406=\u0026response-content-disposition=attachment%3B+filename%3DAnalysis_of_PALB2_FANCN_associated_breas.pdf\u0026Expires=1732996708\u0026Signature=dQqEUBTIpqDy9hrXtvMuyC21BAPYfN3WMfQBJFQJ8sq3aAWdfiqh4T5UxpeUiMgXTvQ7OI38xJjXMV7Ri9vb8FhOZF0hZmcMuZZg2oaSb4y~Jka1sXGCkJZi55cizfkIBMTk1tNsbsG~hQ0ML~szn~-NVEYckA-QmxlXx9wNRFVcQiDu6H9tl8eAr~q9cE--okwIdINSyQG~WTiw~7B3sN6XU7poN48qlU-CmweYJsGg2Lb5e2iii30~YOB17fOSvI5E0gnvzd1F~nsgtDEhNS8t2mDYMW4AIE1vDumgcRydNkyfnmYIzsXTUmd8mLpJMUrfByhemwEXqGT~QsCDwg__\u0026Key-Pair-Id=APKAJLOHF5GGSLRBV4ZA"}],"slug":"Analysis_of_PALB2_FANCN_associated_breast_cancer_families","translated_slug":"","page_count":6,"language":"en","content_type":"Work","owner":{"id":31600762,"first_name":"Nancy","middle_initials":null,"last_name":"Hamel","page_name":"NancyHamel","domain_name":"independent","created_at":"2015-05-27T09:36:34.282-07:00","display_name":"Nancy Hamel","url":"https://independent.academia.edu/NancyHamel"},"attachments":[{"id":46037466,"title":"","file_type":"pdf","scribd_thumbnail_url":"https://attachments.academia-assets.com/46037466/thumbnails/1.jpg","file_name":"Analysis_of_PALB2FANCN-associated_breast20160529-27068-1ithhnt.pdf","download_url":"https://www.academia.edu/attachments/46037466/download_file?st=MTczMjk5MzEwOCw4LjIyMi4yMDguMTQ2&st=MTczMjk5MzEwOCw4LjIyMi4yMDguMTQ2&","bulk_download_file_name":"Analysis_of_PALB2_FANCN_associated_breas.pdf","bulk_download_url":"https://d1wqtxts1xzle7.cloudfront.net/46037466/Analysis_of_PALB2FANCN-associated_breast20160529-27068-1ithhnt-libre.pdf?1464514406=\u0026response-content-disposition=attachment%3B+filename%3DAnalysis_of_PALB2_FANCN_associated_breas.pdf\u0026Expires=1732996708\u0026Signature=dQqEUBTIpqDy9hrXtvMuyC21BAPYfN3WMfQBJFQJ8sq3aAWdfiqh4T5UxpeUiMgXTvQ7OI38xJjXMV7Ri9vb8FhOZF0hZmcMuZZg2oaSb4y~Jka1sXGCkJZi55cizfkIBMTk1tNsbsG~hQ0ML~szn~-NVEYckA-QmxlXx9wNRFVcQiDu6H9tl8eAr~q9cE--okwIdINSyQG~WTiw~7B3sN6XU7poN48qlU-CmweYJsGg2Lb5e2iii30~YOB17fOSvI5E0gnvzd1F~nsgtDEhNS8t2mDYMW4AIE1vDumgcRydNkyfnmYIzsXTUmd8mLpJMUrfByhemwEXqGT~QsCDwg__\u0026Key-Pair-Id=APKAJLOHF5GGSLRBV4ZA"}],"research_interests":[{"id":6802,"name":"Breast Cancer","url":"https://www.academia.edu/Documents/in/Breast_Cancer"},{"id":23067,"name":"DNA repair","url":"https://www.academia.edu/Documents/in/DNA_repair"},{"id":28235,"name":"Multidisciplinary","url":"https://www.academia.edu/Documents/in/Multidisciplinary"},{"id":32159,"name":"Family history","url":"https://www.academia.edu/Documents/in/Family_history"},{"id":82270,"name":"Close relationships","url":"https://www.academia.edu/Documents/in/Close_relationships"},{"id":99023,"name":"Melanoma","url":"https://www.academia.edu/Documents/in/Melanoma"},{"id":176832,"name":"Fanconi anemia","url":"https://www.academia.edu/Documents/in/Fanconi_anemia"},{"id":188349,"name":"Pedigree","url":"https://www.academia.edu/Documents/in/Pedigree"}],"urls":[]}, dispatcherData: dispatcherData }); 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Two decades later, adenomatous polyps were found, followed by multiple primary invasive adenocarcinomas of both the colon and the stomach. Premature chromatid separation and mosaic variegated aneuploidy, combined with structural chromosomal abnormalities, were detected in his cells. We identified a germline homozygous intronic mutation, c.2386-11A鈫扜, in the spindle-assembly checkpoint gene BUB1B, which creates a de novo splice site that is favored over the authentic (i.e., preferentially used) site. Our findings expand the phenotype associated with BUB1B mutations and the mosaic variegated aneuploidy syndrome to include common adult-onset cancers and provide evidence for the interdependency of the APC protein (encoded by the adenomatous polyposis coli gene) and the BUBR1 protein (encoded by BUB1B) in humans. (Funded by the Turner Family Cancer Research Fund and others.)","publication_date":{"day":null,"month":null,"year":2010,"errors":{}},"publication_name":"New England Journal of Medicine","grobid_abstract_attachment_id":46037454},"translated_abstract":null,"internal_url":"https://www.academia.edu/12632510/Homozygous_BUB1B_Mutation_and_Susceptibility_to_Gastrointestinal_Neoplasia","translated_internal_url":"","created_at":"2015-05-27T09:37:35.290-07:00","preview_url":null,"current_user_can_edit":null,"current_user_is_owner":null,"owner_id":31600762,"coauthors_can_edit":true,"document_type":"paper","co_author_tags":[],"downloadable_attachments":[{"id":46037454,"title":"","file_type":"pdf","scribd_thumbnail_url":"https://attachments.academia-assets.com/46037454/thumbnails/1.jpg","file_name":"Homozygous_BUB1B_mutation_and_susceptibi20160529-32739-67kipl.pdf","download_url":"https://www.academia.edu/attachments/46037454/download_file?st=MTczMjk5MzEwOCw4LjIyMi4yMDguMTQ2&st=MTczMjk5MzEwOCw4LjIyMi4yMDguMTQ2&","bulk_download_file_name":"Homozygous_BUB1B_Mutation_and_Susceptibi.pdf","bulk_download_url":"https://d1wqtxts1xzle7.cloudfront.net/46037454/Homozygous_BUB1B_mutation_and_susceptibi20160529-32739-67kipl-libre.pdf?1464514407=\u0026response-content-disposition=attachment%3B+filename%3DHomozygous_BUB1B_Mutation_and_Susceptibi.pdf\u0026Expires=1732996708\u0026Signature=H48LCpz72pGvl7FQLZjA0SLuy6kaqbuYmkWXgM5QQ3pb27BtEYUqfTLYIqjg-oEZHevyrMg6x~J6PJuMhvKdwVNC230JyJ02OdGn0RN2ZSws-1geb2kFJy~VncGhsX4sMsRnoWU0Lr9ULUPi2tn6WtUbrUSo37vFdP98wkvsFwhFnIQKFvBIfv3i8xfIW-wlPhAjJ3vfiV9MtzEK~eJaRHzimVatTbAoviqKl0t8dm4lHMGv~7fPqTi58qnHw2z9mEuGmUuuPw0iklTrDVXVcdlyPrlrOMxIFfarHw1ZTSxnTGImjC~QaeGbSGTOyJ7PHdE1AEVBAiTItthwDrdVJw__\u0026Key-Pair-Id=APKAJLOHF5GGSLRBV4ZA"}],"slug":"Homozygous_BUB1B_Mutation_and_Susceptibility_to_Gastrointestinal_Neoplasia","translated_slug":"","page_count":10,"language":"en","content_type":"Work","owner":{"id":31600762,"first_name":"Nancy","middle_initials":null,"last_name":"Hamel","page_name":"NancyHamel","domain_name":"independent","created_at":"2015-05-27T09:36:34.282-07:00","display_name":"Nancy Hamel","url":"https://independent.academia.edu/NancyHamel"},"attachments":[{"id":46037454,"title":"","file_type":"pdf","scribd_thumbnail_url":"https://attachments.academia-assets.com/46037454/thumbnails/1.jpg","file_name":"Homozygous_BUB1B_mutation_and_susceptibi20160529-32739-67kipl.pdf","download_url":"https://www.academia.edu/attachments/46037454/download_file?st=MTczMjk5MzEwOCw4LjIyMi4yMDguMTQ2&st=MTczMjk5MzEwOCw4LjIyMi4yMDguMTQ2&","bulk_download_file_name":"Homozygous_BUB1B_Mutation_and_Susceptibi.pdf","bulk_download_url":"https://d1wqtxts1xzle7.cloudfront.net/46037454/Homozygous_BUB1B_mutation_and_susceptibi20160529-32739-67kipl-libre.pdf?1464514407=\u0026response-content-disposition=attachment%3B+filename%3DHomozygous_BUB1B_Mutation_and_Susceptibi.pdf\u0026Expires=1732996708\u0026Signature=H48LCpz72pGvl7FQLZjA0SLuy6kaqbuYmkWXgM5QQ3pb27BtEYUqfTLYIqjg-oEZHevyrMg6x~J6PJuMhvKdwVNC230JyJ02OdGn0RN2ZSws-1geb2kFJy~VncGhsX4sMsRnoWU0Lr9ULUPi2tn6WtUbrUSo37vFdP98wkvsFwhFnIQKFvBIfv3i8xfIW-wlPhAjJ3vfiV9MtzEK~eJaRHzimVatTbAoviqKl0t8dm4lHMGv~7fPqTi58qnHw2z9mEuGmUuuPw0iklTrDVXVcdlyPrlrOMxIFfarHw1ZTSxnTGImjC~QaeGbSGTOyJ7PHdE1AEVBAiTItthwDrdVJw__\u0026Key-Pair-Id=APKAJLOHF5GGSLRBV4ZA"}],"research_interests":[{"id":153639,"name":"Karyotyping","url":"https://www.academia.edu/Documents/in/Karyotyping"},{"id":188349,"name":"Pedigree","url":"https://www.academia.edu/Documents/in/Pedigree"},{"id":213897,"name":"Phenotype","url":"https://www.academia.edu/Documents/in/Phenotype"},{"id":289271,"name":"Aged","url":"https://www.academia.edu/Documents/in/Aged"},{"id":537661,"name":"Genomic instability","url":"https://www.academia.edu/Documents/in/Genomic_instability"},{"id":799412,"name":"Chromosome Disorders","url":"https://www.academia.edu/Documents/in/Chromosome_Disorders"},{"id":846443,"name":"Mosaicism","url":"https://www.academia.edu/Documents/in/Mosaicism"},{"id":963748,"name":"Adenoma","url":"https://www.academia.edu/Documents/in/Adenoma"},{"id":1161066,"name":"New England Journalof Medicine","url":"https://www.academia.edu/Documents/in/New_England_Journalof_Medicine"},{"id":1745478,"name":"Adenocarcinoma","url":"https://www.academia.edu/Documents/in/Adenocarcinoma"}],"urls":[]}, dispatcherData: dispatcherData }); $(this).data('initialized', true); } }); $a.trackClickSource(".js-work-strip-work-link", "profile_work_strip") }); </script> <div class="js-work-strip profile--work_container" data-work-id="12632509"><div class="profile--work_thumbnail hidden-xs"><a class="js-work-strip-work-link" data-click-track="profile-work-strip-thumbnail" href="https://www.academia.edu/12632509/Familial_prostate_cancer_the_damage_done_and_lessons_learnt"><img alt="Research paper thumbnail of Familial prostate cancer: the damage done and lessons learnt" class="work-thumbnail" src="https://a.academia-assets.com/images/blank-paper.jpg" /></a></div><div class="wp-workCard wp-workCard_itemContainer"><div class="wp-workCard_item wp-workCard--title"><a class="js-work-strip-work-link text-gray-darker" data-click-track="profile-work-strip-title" href="https://www.academia.edu/12632509/Familial_prostate_cancer_the_damage_done_and_lessons_learnt">Familial prostate cancer: the damage done and lessons learnt</a></div><div class="wp-workCard_item"><span>Nature Reviews Urology</span><span>, 2013</span></div><div class="wp-workCard_item"><span class="js-work-more-abstract-truncated">A 51-year-old French Canadian man presented to his family physician owing to an extensive family ...</span><a class="js-work-more-abstract" data-broccoli-component="work_strip.more_abstract" data-click-track="profile-work-strip-more-abstract" href="javascript:;"><span> more </span><span><i class="fa fa-caret-down"></i></span></a><span class="js-work-more-abstract-untruncated hidden">A 51-year-old French Canadian man presented to his family physician owing to an extensive family history of prostate cancer in five brothers, his father and two paternal uncles. His serum PSA level was 4.9 ng/ml and a six-core biopsy revealed the presence of a prostate adenocarcinoma with a Gleason score of 7 (3+4). He was treated with radical prostatectomy. Repeat PSA tests revealed a gradual rise in PSA levels despite androgen deprivation therapy with bicalutamide and goserelin over the course of 3 years. Genetic evaluation was undertaken in view of his personal and family history. The proband died at the age of 58 years of widespread metastasis. PSA testing, six-core biopsy, genetic counselling and mutation analysis for French Canadian founder mutations in the BRCA1 and BRCA2 genes, histopathological review of tumour tissue from family members, examination of loss of heterozygosity at the BRCA2 gene locus, immunohistochemistry to determine the expression of the ERG nuclear oncoprotein in prostate tumours, genotyping with eight selected risk-associated single nucleotide polymorphisms, Doppler ultrasonography of the leg, CT of the abdomen and pelvis with intravenous and oral contrast, chest CT with intravenous contrast for the assessment of metastatic prostate cancer, genetic testing for the G84E variant in the HOXB13 gene. Early-onset and aggressive prostate cancer associated with a nonsense French Canadian BRCA2 founder mutation, c.5857G&amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;gt;T (p.Glu1953(*)). Radical prostatectomy, hormone therapy with bicalutamide and goserelin, palliative chemotherapy initially with docetaxel plus prednisone then with mitoxantrone plus prednisone, as well as genetic counselling and testing for the proband and his family members.</span></div><div class="wp-workCard_item wp-workCard--actions"><span class="work-strip-bookmark-button-container"></span><span class="wp-workCard--action visible-if-viewed-by-owner inline-block" style="display: none;"><span class="js-profile-work-strip-edit-button-wrapper profile-work-strip-edit-button-wrapper" data-work-id="12632509"><a class="js-profile-work-strip-edit-button" tabindex="0"><span><i class="fa fa-pencil"></i></span><span>Edit</span></a></span></span><span id="work-strip-rankings-button-container"></span></div><div class="wp-workCard_item wp-workCard--stats"><span><span><span class="js-view-count view-count u-mr2x" data-work-id="12632509"><i class="fa fa-spinner fa-spin"></i></span><script>$(function () { var workId = 12632509; window.Academia.workViewCountsFetcher.queue(workId, function (count) { var description = window.$h.commaizeInt(count) + " " + window.$h.pluralize(count, 'View'); $(".js-view-count[data-work-id=12632509]").text(description); $(".js-view-count[data-work-id=12632509]").attr('title', description).tooltip(); }); });</script></span></span><span><span class="percentile-widget hidden"><span class="u-mr2x work-percentile"></span></span><script>$(function () { var workId = 12632509; window.Academia.workPercentilesFetcher.queue(workId, function (percentileText) { var container = $(".js-work-strip[data-work-id='12632509']"); container.find('.work-percentile').text(percentileText.charAt(0).toUpperCase() + percentileText.slice(1)); container.find('.percentile-widget').show(); container.find('.percentile-widget').removeClass('hidden'); }); });</script></span><span><script>$(function() { new Works.PaperRankView({ workId: 12632509, container: "", }); });</script></span></div><div id="work-strip-premium-row-container"></div></div></div><script> require.config({ waitSeconds: 90 })(["https://a.academia-assets.com/assets/wow_profile-f77ea15d77ce96025a6048a514272ad8becbad23c641fc2b3bd6e24ca6ff1932.js","https://a.academia-assets.com/assets/work_edit-ad038b8c047c1a8d4fa01b402d530ff93c45fee2137a149a4a5398bc8ad67560.js"], function() { // from javascript_helper.rb var dispatcherData = {} if (false){ window.WowProfile.dispatcher = window.WowProfile.dispatcher || _.clone(Backbone.Events); dispatcherData = { dispatcher: window.WowProfile.dispatcher, downloadLinkId: "-1" } } $('.js-work-strip[data-work-id=12632509]').each(function() { if (!$(this).data('initialized')) { new WowProfile.WorkStripView({ el: this, workJSON: {"id":12632509,"title":"Familial prostate cancer: the damage done and lessons learnt","translated_title":"","metadata":{"abstract":"A 51-year-old French Canadian man presented to his family physician owing to an extensive family history of prostate cancer in five brothers, his father and two paternal uncles. His serum PSA level was 4.9 ng/ml and a six-core biopsy revealed the presence of a prostate adenocarcinoma with a Gleason score of 7 (3+4). He was treated with radical prostatectomy. Repeat PSA tests revealed a gradual rise in PSA levels despite androgen deprivation therapy with bicalutamide and goserelin over the course of 3 years. Genetic evaluation was undertaken in view of his personal and family history. The proband died at the age of 58 years of widespread metastasis. PSA testing, six-core biopsy, genetic counselling and mutation analysis for French Canadian founder mutations in the BRCA1 and BRCA2 genes, histopathological review of tumour tissue from family members, examination of loss of heterozygosity at the BRCA2 gene locus, immunohistochemistry to determine the expression of the ERG nuclear oncoprotein in prostate tumours, genotyping with eight selected risk-associated single nucleotide polymorphisms, Doppler ultrasonography of the leg, CT of the abdomen and pelvis with intravenous and oral contrast, chest CT with intravenous contrast for the assessment of metastatic prostate cancer, genetic testing for the G84E variant in the HOXB13 gene. Early-onset and aggressive prostate cancer associated with a nonsense French Canadian BRCA2 founder mutation, c.5857G\u0026amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;gt;T (p.Glu1953(*)). Radical prostatectomy, hormone therapy with bicalutamide and goserelin, palliative chemotherapy initially with docetaxel plus prednisone then with mitoxantrone plus prednisone, as well as genetic counselling and testing for the proband and his family members.","publication_date":{"day":null,"month":null,"year":2013,"errors":{}},"publication_name":"Nature Reviews Urology"},"translated_abstract":"A 51-year-old French Canadian man presented to his family physician owing to an extensive family history of prostate cancer in five brothers, his father and two paternal uncles. His serum PSA level was 4.9 ng/ml and a six-core biopsy revealed the presence of a prostate adenocarcinoma with a Gleason score of 7 (3+4). He was treated with radical prostatectomy. Repeat PSA tests revealed a gradual rise in PSA levels despite androgen deprivation therapy with bicalutamide and goserelin over the course of 3 years. Genetic evaluation was undertaken in view of his personal and family history. The proband died at the age of 58 years of widespread metastasis. PSA testing, six-core biopsy, genetic counselling and mutation analysis for French Canadian founder mutations in the BRCA1 and BRCA2 genes, histopathological review of tumour tissue from family members, examination of loss of heterozygosity at the BRCA2 gene locus, immunohistochemistry to determine the expression of the ERG nuclear oncoprotein in prostate tumours, genotyping with eight selected risk-associated single nucleotide polymorphisms, Doppler ultrasonography of the leg, CT of the abdomen and pelvis with intravenous and oral contrast, chest CT with intravenous contrast for the assessment of metastatic prostate cancer, genetic testing for the G84E variant in the HOXB13 gene. Early-onset and aggressive prostate cancer associated with a nonsense French Canadian BRCA2 founder mutation, c.5857G\u0026amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;gt;T (p.Glu1953(*)). Radical prostatectomy, hormone therapy with bicalutamide and goserelin, palliative chemotherapy initially with docetaxel plus prednisone then with mitoxantrone plus prednisone, as well as genetic counselling and testing for the proband and his family members.","internal_url":"https://www.academia.edu/12632509/Familial_prostate_cancer_the_damage_done_and_lessons_learnt","translated_internal_url":"","created_at":"2015-05-27T09:37:35.173-07:00","preview_url":null,"current_user_can_edit":null,"current_user_is_owner":null,"owner_id":31600762,"coauthors_can_edit":true,"document_type":"paper","co_author_tags":[],"downloadable_attachments":[],"slug":"Familial_prostate_cancer_the_damage_done_and_lessons_learnt","translated_slug":"","page_count":null,"language":"en","content_type":"Work","owner":{"id":31600762,"first_name":"Nancy","middle_initials":null,"last_name":"Hamel","page_name":"NancyHamel","domain_name":"independent","created_at":"2015-05-27T09:36:34.282-07:00","display_name":"Nancy Hamel","url":"https://independent.academia.edu/NancyHamel"},"attachments":[],"research_interests":[{"id":188349,"name":"Pedigree","url":"https://www.academia.edu/Documents/in/Pedigree"},{"id":244814,"name":"Clinical Sciences","url":"https://www.academia.edu/Documents/in/Clinical_Sciences"}],"urls":[]}, dispatcherData: dispatcherData }); $(this).data('initialized', true); } }); $a.trackClickSource(".js-work-strip-work-link", "profile_work_strip") }); </script> <div class="js-work-strip profile--work_container" data-work-id="12632508"><div class="profile--work_thumbnail hidden-xs"><a class="js-work-strip-work-link" data-click-track="profile-work-strip-thumbnail" href="https://www.academia.edu/12632508/Germline_and_somatic_SMARCA4_mutations_characterize_small_cell_carcinoma_of_the_ovary_hypercalcemic_type"><img alt="Research paper thumbnail of Germline and somatic SMARCA4 mutations characterize small cell carcinoma of the ovary, hypercalcemic type" class="work-thumbnail" src="https://a.academia-assets.com/images/blank-paper.jpg" /></a></div><div class="wp-workCard wp-workCard_itemContainer"><div class="wp-workCard_item wp-workCard--title"><a class="js-work-strip-work-link text-gray-darker" data-click-track="profile-work-strip-title" href="https://www.academia.edu/12632508/Germline_and_somatic_SMARCA4_mutations_characterize_small_cell_carcinoma_of_the_ovary_hypercalcemic_type">Germline and somatic SMARCA4 mutations characterize small cell carcinoma of the ovary, hypercalcemic type</a></div><div class="wp-workCard_item"><span>Nature Genetics</span><span>, 2014</span></div><div class="wp-workCard_item"><span class="js-work-more-abstract-truncated">Small cell carcinoma of the ovary, hypercalcemic type (SCCOHT) is the most common undifferentiate...</span><a class="js-work-more-abstract" data-broccoli-component="work_strip.more_abstract" data-click-track="profile-work-strip-more-abstract" href="javascript:;"><span> more </span><span><i class="fa fa-caret-down"></i></span></a><span class="js-work-more-abstract-untruncated hidden">Small cell carcinoma of the ovary, hypercalcemic type (SCCOHT) is the most common undifferentiated ovarian malignancy in women under 40 years of age. We sequenced the exomes of six individuals from three families with SCCOHT. After discovering segregating deleterious germline mutations in SMARCA4 in all three families, we tested DNA from a fourth affected family, which also carried a segregating SMARCA4 germline mutation. All the familial tumors sequenced harbored either a somatic mutation or loss of the wild-type allele. Immunohistochemical analysis of these cases and additional familial and non-familial cases showed loss of SMARCA4 (BRG1) protein in 38 of 40 tumors overall. Sequencing of cases with available DNA identified at least one germline or somatic deleterious SMARCA4 mutation in 30 of 32 cases. Additionally, the SCCOHT cell line BIN-67 had biallelic deleterious mutations in SMARCA4. Our findings identify alterations in SMARCA4 as the major cause of SCCOHT, which could lead to improvements in genetic counseling and new treatment approaches.</span></div><div class="wp-workCard_item wp-workCard--actions"><span class="work-strip-bookmark-button-container"></span><span class="wp-workCard--action visible-if-viewed-by-owner inline-block" style="display: none;"><span class="js-profile-work-strip-edit-button-wrapper profile-work-strip-edit-button-wrapper" data-work-id="12632508"><a class="js-profile-work-strip-edit-button" tabindex="0"><span><i class="fa fa-pencil"></i></span><span>Edit</span></a></span></span><span id="work-strip-rankings-button-container"></span></div><div class="wp-workCard_item wp-workCard--stats"><span><span><span class="js-view-count view-count u-mr2x" data-work-id="12632508"><i class="fa fa-spinner fa-spin"></i></span><script>$(function () { var workId = 12632508; window.Academia.workViewCountsFetcher.queue(workId, function (count) { var description = window.$h.commaizeInt(count) + " " + window.$h.pluralize(count, 'View'); $(".js-view-count[data-work-id=12632508]").text(description); $(".js-view-count[data-work-id=12632508]").attr('title', description).tooltip(); }); });</script></span></span><span><span class="percentile-widget hidden"><span class="u-mr2x work-percentile"></span></span><script>$(function () { var workId = 12632508; window.Academia.workPercentilesFetcher.queue(workId, function (percentileText) { var container = $(".js-work-strip[data-work-id='12632508']"); container.find('.work-percentile').text(percentileText.charAt(0).toUpperCase() + percentileText.slice(1)); container.find('.percentile-widget').show(); container.find('.percentile-widget').removeClass('hidden'); }); });</script></span><span><script>$(function() { new Works.PaperRankView({ workId: 12632508, container: "", }); });</script></span></div><div id="work-strip-premium-row-container"></div></div></div><script> require.config({ waitSeconds: 90 })(["https://a.academia-assets.com/assets/wow_profile-f77ea15d77ce96025a6048a514272ad8becbad23c641fc2b3bd6e24ca6ff1932.js","https://a.academia-assets.com/assets/work_edit-ad038b8c047c1a8d4fa01b402d530ff93c45fee2137a149a4a5398bc8ad67560.js"], function() { // from javascript_helper.rb var dispatcherData = {} if (false){ window.WowProfile.dispatcher = window.WowProfile.dispatcher || _.clone(Backbone.Events); dispatcherData = { dispatcher: window.WowProfile.dispatcher, downloadLinkId: "-1" } } $('.js-work-strip[data-work-id=12632508]').each(function() { if (!$(this).data('initialized')) { new WowProfile.WorkStripView({ el: this, workJSON: {"id":12632508,"title":"Germline and somatic SMARCA4 mutations characterize small cell carcinoma of the ovary, hypercalcemic type","translated_title":"","metadata":{"abstract":"Small cell carcinoma of the ovary, hypercalcemic type (SCCOHT) is the most common undifferentiated ovarian malignancy in women under 40 years of age. We sequenced the exomes of six individuals from three families with SCCOHT. After discovering segregating deleterious germline mutations in SMARCA4 in all three families, we tested DNA from a fourth affected family, which also carried a segregating SMARCA4 germline mutation. All the familial tumors sequenced harbored either a somatic mutation or loss of the wild-type allele. Immunohistochemical analysis of these cases and additional familial and non-familial cases showed loss of SMARCA4 (BRG1) protein in 38 of 40 tumors overall. Sequencing of cases with available DNA identified at least one germline or somatic deleterious SMARCA4 mutation in 30 of 32 cases. Additionally, the SCCOHT cell line BIN-67 had biallelic deleterious mutations in SMARCA4. Our findings identify alterations in SMARCA4 as the major cause of SCCOHT, which could lead to improvements in genetic counseling and new treatment approaches.","publication_date":{"day":null,"month":null,"year":2014,"errors":{}},"publication_name":"Nature Genetics"},"translated_abstract":"Small cell carcinoma of the ovary, hypercalcemic type (SCCOHT) is the most common undifferentiated ovarian malignancy in women under 40 years of age. We sequenced the exomes of six individuals from three families with SCCOHT. After discovering segregating deleterious germline mutations in SMARCA4 in all three families, we tested DNA from a fourth affected family, which also carried a segregating SMARCA4 germline mutation. All the familial tumors sequenced harbored either a somatic mutation or loss of the wild-type allele. Immunohistochemical analysis of these cases and additional familial and non-familial cases showed loss of SMARCA4 (BRG1) protein in 38 of 40 tumors overall. Sequencing of cases with available DNA identified at least one germline or somatic deleterious SMARCA4 mutation in 30 of 32 cases. Additionally, the SCCOHT cell line BIN-67 had biallelic deleterious mutations in SMARCA4. Our findings identify alterations in SMARCA4 as the major cause of SCCOHT, which could lead to improvements in genetic counseling and new treatment approaches.","internal_url":"https://www.academia.edu/12632508/Germline_and_somatic_SMARCA4_mutations_characterize_small_cell_carcinoma_of_the_ovary_hypercalcemic_type","translated_internal_url":"","created_at":"2015-05-27T09:37:35.077-07:00","preview_url":null,"current_user_can_edit":null,"current_user_is_owner":null,"owner_id":31600762,"coauthors_can_edit":true,"document_type":"paper","co_author_tags":[],"downloadable_attachments":[],"slug":"Germline_and_somatic_SMARCA4_mutations_characterize_small_cell_carcinoma_of_the_ovary_hypercalcemic_type","translated_slug":"","page_count":null,"language":"en","content_type":"Work","owner":{"id":31600762,"first_name":"Nancy","middle_initials":null,"last_name":"Hamel","page_name":"NancyHamel","domain_name":"independent","created_at":"2015-05-27T09:36:34.282-07:00","display_name":"Nancy Hamel","url":"https://independent.academia.edu/NancyHamel"},"attachments":[],"research_interests":[{"id":12071,"name":"Immunohistochemistry","url":"https://www.academia.edu/Documents/in/Immunohistochemistry"},{"id":23323,"name":"Transcription Factors","url":"https://www.academia.edu/Documents/in/Transcription_Factors"},{"id":47884,"name":"Biological Sciences","url":"https://www.academia.edu/Documents/in/Biological_Sciences"},{"id":74780,"name":"Mutation","url":"https://www.academia.edu/Documents/in/Mutation"},{"id":212690,"name":"Non small cell carcinoma","url":"https://www.academia.edu/Documents/in/Non_small_cell_carcinoma"},{"id":809882,"name":"Base Sequence","url":"https://www.academia.edu/Documents/in/Base_Sequence"},{"id":1634669,"name":"Exome","url":"https://www.academia.edu/Documents/in/Exome"},{"id":2058817,"name":"Immunoblotting","url":"https://www.academia.edu/Documents/in/Immunoblotting"},{"id":2467566,"name":"Molecular Sequence Data","url":"https://www.academia.edu/Documents/in/Molecular_Sequence_Data"}],"urls":[]}, dispatcherData: dispatcherData }); $(this).data('initialized', true); } }); $a.trackClickSource(".js-work-strip-work-link", "profile_work_strip") }); </script> <div class="js-work-strip profile--work_container" data-work-id="12632507"><div class="profile--work_thumbnail hidden-xs"><a class="js-work-strip-work-link" data-click-track="profile-work-strip-thumbnail" href="https://www.academia.edu/12632507/Familial_rhabdoid_tumour_avant_la_lettre_from_pathology_review_to_exome_sequencing_and_back_again"><img alt="Research paper thumbnail of Familial rhabdoid tumour ' avant la lettre '-from pathology review to exome sequencing and back again" class="work-thumbnail" src="https://attachments.academia-assets.com/46037462/thumbnails/1.jpg" /></a></div><div class="wp-workCard wp-workCard_itemContainer"><div class="wp-workCard_item wp-workCard--title"><a class="js-work-strip-work-link text-gray-darker" data-click-track="profile-work-strip-title" href="https://www.academia.edu/12632507/Familial_rhabdoid_tumour_avant_la_lettre_from_pathology_review_to_exome_sequencing_and_back_again">Familial rhabdoid tumour ' avant la lettre '-from pathology review to exome sequencing and back again</a></div><div class="wp-workCard_item"><span>The Journal of Pathology</span><span>, 2013</span></div><div class="wp-workCard_item wp-workCard--actions"><span class="work-strip-bookmark-button-container"></span><a id="8dc4b6dec721e3dceab29ca346d39e5e" class="wp-workCard--action" rel="nofollow" data-click-track="profile-work-strip-download" data-download="{"attachment_id":46037462,"asset_id":12632507,"asset_type":"Work","button_location":"profile"}" href="https://www.academia.edu/attachments/46037462/download_file?st=MTczMjk5MzEwOCw4LjIyMi4yMDguMTQ2&st=MTczMjk5MzEwOCw4LjIyMi4yMDguMTQ2&s=profile"><span><i class="fa fa-arrow-down"></i></span><span>Download</span></a><span class="wp-workCard--action visible-if-viewed-by-owner inline-block" style="display: none;"><span class="js-profile-work-strip-edit-button-wrapper profile-work-strip-edit-button-wrapper" data-work-id="12632507"><a class="js-profile-work-strip-edit-button" tabindex="0"><span><i class="fa fa-pencil"></i></span><span>Edit</span></a></span></span><span id="work-strip-rankings-button-container"></span></div><div class="wp-workCard_item wp-workCard--stats"><span><span><span class="js-view-count view-count u-mr2x" data-work-id="12632507"><i class="fa fa-spinner fa-spin"></i></span><script>$(function () { var workId = 12632507; window.Academia.workViewCountsFetcher.queue(workId, function (count) { var description = window.$h.commaizeInt(count) + " " + window.$h.pluralize(count, 'View'); $(".js-view-count[data-work-id=12632507]").text(description); $(".js-view-count[data-work-id=12632507]").attr('title', description).tooltip(); }); });</script></span></span><span><span class="percentile-widget hidden"><span class="u-mr2x work-percentile"></span></span><script>$(function () { var workId = 12632507; window.Academia.workPercentilesFetcher.queue(workId, function (percentileText) { var container = $(".js-work-strip[data-work-id='12632507']"); container.find('.work-percentile').text(percentileText.charAt(0).toUpperCase() + percentileText.slice(1)); container.find('.percentile-widget').show(); container.find('.percentile-widget').removeClass('hidden'); }); });</script></span><span><script>$(function() { new Works.PaperRankView({ workId: 12632507, container: "", }); });</script></span></div><div id="work-strip-premium-row-container"></div></div></div><script> require.config({ waitSeconds: 90 })(["https://a.academia-assets.com/assets/wow_profile-f77ea15d77ce96025a6048a514272ad8becbad23c641fc2b3bd6e24ca6ff1932.js","https://a.academia-assets.com/assets/work_edit-ad038b8c047c1a8d4fa01b402d530ff93c45fee2137a149a4a5398bc8ad67560.js"], function() { // from javascript_helper.rb var dispatcherData = {} if (true){ window.WowProfile.dispatcher = window.WowProfile.dispatcher || _.clone(Backbone.Events); dispatcherData = { dispatcher: window.WowProfile.dispatcher, downloadLinkId: "8dc4b6dec721e3dceab29ca346d39e5e" } } $('.js-work-strip[data-work-id=12632507]').each(function() { if (!$(this).data('initialized')) { new WowProfile.WorkStripView({ el: this, workJSON: {"id":12632507,"title":"Familial rhabdoid tumour ' avant la lettre '-from pathology review to exome sequencing and back again","translated_title":"","metadata":{"grobid_abstract":"Here we provide compelling evidence that next-generation sequencing will revolutionize diagnostics. We reappraised a case from 1991, published in 1993, describing the unique occurrence of an ovarian immature teratoma arising in a young woman and a clonally distinct intracerebral immature teratoma developing in her daughter. We conducted whole-exome sequencing on constitutional DNA from the mother and her daughter and identified a previously unreported nonsense mutation (c.3533G\u003eA; p.Trp1178 * ) in the chromatin remodelling gene, SMARCA4, that was present in both individuals and was subject to nonsense-mediated decay. Tumour analysis by Sanger sequencing revealed a somatic SMARCA4 mutation in both the mother (c.2438+1G\u003eT) and her daughter (c.3229C\u003eT; p.Arg1077 * ), which are predicted to be truncating. As immature teratomas are classified as germ cell tumours, we performed a comprehensive mutation survey of 106 apparently sporadic germ cell tumours, but did not find any other clearly deleterious SMARCA4 mutations. Recently, inactivating mutations in SMARCA4 have been found in two cases of rhabdoid tumour predisposition syndrome type 2. In the light of these findings, renewed efforts to locate previously unobtainable tumour samples were successfully undertaken. Histopathological and immunohistochemical re-analysis of the daughter's tumour revealed that it was indeed a rhabdoid tumour (atypical teratoid/rhabdoid tumour). In this context, the original pathology report of the mother's ovarian tumour was re-interpreted as describing a malignant rhabdoid tumour of the ovary. This report raises the question as to whether molecular genetic analysis should be included in tumour classification, alongside more traditional microscopy-based methods. The use of new sequencing technologies, particularly when applied to archived samples, will lead to many more 'molecular rediagnoses'. This is the earliest known case of rhabdoid tumour predisposition syndrome type 2 and the first described case with an autosomal dominant pattern of inheritance, only discovered through an exome sequencing project.","publication_date":{"day":null,"month":null,"year":2013,"errors":{}},"publication_name":"The Journal of Pathology","grobid_abstract_attachment_id":46037462},"translated_abstract":null,"internal_url":"https://www.academia.edu/12632507/Familial_rhabdoid_tumour_avant_la_lettre_from_pathology_review_to_exome_sequencing_and_back_again","translated_internal_url":"","created_at":"2015-05-27T09:37:34.983-07:00","preview_url":null,"current_user_can_edit":null,"current_user_is_owner":null,"owner_id":31600762,"coauthors_can_edit":true,"document_type":"paper","co_author_tags":[],"downloadable_attachments":[{"id":46037462,"title":"","file_type":"pdf","scribd_thumbnail_url":"https://attachments.academia-assets.com/46037462/thumbnails/1.jpg","file_name":"Familial_Rhabdoid_Tumour_Avant_La_Lettre20160529-19863-1rmsdp6.pdf","download_url":"https://www.academia.edu/attachments/46037462/download_file?st=MTczMjk5MzEwOCw4LjIyMi4yMDguMTQ2&st=MTczMjk5MzEwOCw4LjIyMi4yMDguMTQ2&","bulk_download_file_name":"Familial_rhabdoid_tumour_avant_la_lettre.pdf","bulk_download_url":"https://d1wqtxts1xzle7.cloudfront.net/46037462/Familial_Rhabdoid_Tumour_Avant_La_Lettre20160529-19863-1rmsdp6-libre.pdf?1464514405=\u0026response-content-disposition=attachment%3B+filename%3DFamilial_rhabdoid_tumour_avant_la_lettre.pdf\u0026Expires=1732996708\u0026Signature=PsIrKAHzQnBJOwgN27imP~19yZkuYKkeX-rGXmXjDE7lSYAj9u7PPWkYhhI~kBPDd2uVosPjFVrGLDz8sFbbRSffYA-VZQvXCTio07NU-QUT9vfbIQw1xExZUggFD~n5xIM~Op3eT~um~eoUSoxwNM54trxCjsA2oku1lJFPM2CAZ7jWWPxYPd-xzXubV3LGtTtQjkEQ6Nzv4TfxOB4q~flBT6ES9HxKgpJEYsstNvkrIhgw~pT1kAgHvs6op2jepSfhnF3lethRREKzrkA-6FhC~zbnSJZVhtpXZjUPzyMWla-yjYbESV9n5VZML~pb31mVC4Bco4iCUBHaw08myg__\u0026Key-Pair-Id=APKAJLOHF5GGSLRBV4ZA"}],"slug":"Familial_rhabdoid_tumour_avant_la_lettre_from_pathology_review_to_exome_sequencing_and_back_again","translated_slug":"","page_count":9,"language":"en","content_type":"Work","owner":{"id":31600762,"first_name":"Nancy","middle_initials":null,"last_name":"Hamel","page_name":"NancyHamel","domain_name":"independent","created_at":"2015-05-27T09:36:34.282-07:00","display_name":"Nancy Hamel","url":"https://independent.academia.edu/NancyHamel"},"attachments":[{"id":46037462,"title":"","file_type":"pdf","scribd_thumbnail_url":"https://attachments.academia-assets.com/46037462/thumbnails/1.jpg","file_name":"Familial_Rhabdoid_Tumour_Avant_La_Lettre20160529-19863-1rmsdp6.pdf","download_url":"https://www.academia.edu/attachments/46037462/download_file?st=MTczMjk5MzEwOCw4LjIyMi4yMDguMTQ2&st=MTczMjk5MzEwOCw4LjIyMi4yMDguMTQ2&","bulk_download_file_name":"Familial_rhabdoid_tumour_avant_la_lettre.pdf","bulk_download_url":"https://d1wqtxts1xzle7.cloudfront.net/46037462/Familial_Rhabdoid_Tumour_Avant_La_Lettre20160529-19863-1rmsdp6-libre.pdf?1464514405=\u0026response-content-disposition=attachment%3B+filename%3DFamilial_rhabdoid_tumour_avant_la_lettre.pdf\u0026Expires=1732996708\u0026Signature=PsIrKAHzQnBJOwgN27imP~19yZkuYKkeX-rGXmXjDE7lSYAj9u7PPWkYhhI~kBPDd2uVosPjFVrGLDz8sFbbRSffYA-VZQvXCTio07NU-QUT9vfbIQw1xExZUggFD~n5xIM~Op3eT~um~eoUSoxwNM54trxCjsA2oku1lJFPM2CAZ7jWWPxYPd-xzXubV3LGtTtQjkEQ6Nzv4TfxOB4q~flBT6ES9HxKgpJEYsstNvkrIhgw~pT1kAgHvs6op2jepSfhnF3lethRREKzrkA-6FhC~zbnSJZVhtpXZjUPzyMWla-yjYbESV9n5VZML~pb31mVC4Bco4iCUBHaw08myg__\u0026Key-Pair-Id=APKAJLOHF5GGSLRBV4ZA"}],"research_interests":[{"id":23323,"name":"Transcription Factors","url":"https://www.academia.edu/Documents/in/Transcription_Factors"},{"id":74780,"name":"Mutation","url":"https://www.academia.edu/Documents/in/Mutation"},{"id":188349,"name":"Pedigree","url":"https://www.academia.edu/Documents/in/Pedigree"},{"id":244814,"name":"Clinical Sciences","url":"https://www.academia.edu/Documents/in/Clinical_Sciences"},{"id":883404,"name":"Teratoma","url":"https://www.academia.edu/Documents/in/Teratoma"},{"id":1634669,"name":"Exome","url":"https://www.academia.edu/Documents/in/Exome"}],"urls":[]}, dispatcherData: dispatcherData }); $(this).data('initialized', true); } }); $a.trackClickSource(".js-work-strip-work-link", "profile_work_strip") }); </script> <div class="js-work-strip profile--work_container" data-work-id="12632506"><div class="profile--work_thumbnail hidden-xs"><a class="js-work-strip-work-link" data-click-track="profile-work-strip-thumbnail" rel="nofollow" href="https://www.academia.edu/12632506/Germline_DICER1_mutation_and_associated_loss_of_heterozygosity_in_a_pineoblastoma"><img alt="Research paper thumbnail of Germline DICER1 mutation and associated loss of heterozygosity in a pineoblastoma" class="work-thumbnail" src="https://a.academia-assets.com/images/blank-paper.jpg" /></a></div><div class="wp-workCard wp-workCard_itemContainer"><div class="wp-workCard_item wp-workCard--title"><a class="js-work-strip-work-link text-gray-darker" data-click-track="profile-work-strip-title" rel="nofollow" href="https://www.academia.edu/12632506/Germline_DICER1_mutation_and_associated_loss_of_heterozygosity_in_a_pineoblastoma">Germline DICER1 mutation and associated loss of heterozygosity in a pineoblastoma</a></div><div class="wp-workCard_item"><span>Journal of Medical Genetics</span><span>, 2012</span></div><div class="wp-workCard_item wp-workCard--actions"><span class="work-strip-bookmark-button-container"></span><span class="wp-workCard--action visible-if-viewed-by-owner inline-block" style="display: none;"><span class="js-profile-work-strip-edit-button-wrapper profile-work-strip-edit-button-wrapper" data-work-id="12632506"><a class="js-profile-work-strip-edit-button" tabindex="0"><span><i class="fa fa-pencil"></i></span><span>Edit</span></a></span></span><span id="work-strip-rankings-button-container"></span></div><div class="wp-workCard_item wp-workCard--stats"><span><span><span class="js-view-count view-count u-mr2x" data-work-id="12632506"><i class="fa fa-spinner fa-spin"></i></span><script>$(function () { var workId = 12632506; 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$(this).data('initialized', true); } }); $a.trackClickSource(".js-work-strip-work-link", "profile_work_strip") }); </script> <div class="js-work-strip profile--work_container" data-work-id="12632505"><div class="profile--work_thumbnail hidden-xs"><a class="js-work-strip-work-link" data-click-track="profile-work-strip-thumbnail" href="https://www.academia.edu/12632505/Germline_DICER1_mutations_and_familial_cystic_nephroma"><img alt="Research paper thumbnail of Germline DICER1 mutations and familial cystic nephroma" class="work-thumbnail" src="https://a.academia-assets.com/images/blank-paper.jpg" /></a></div><div class="wp-workCard wp-workCard_itemContainer"><div class="wp-workCard_item wp-workCard--title"><a class="js-work-strip-work-link text-gray-darker" data-click-track="profile-work-strip-title" href="https://www.academia.edu/12632505/Germline_DICER1_mutations_and_familial_cystic_nephroma">Germline DICER1 mutations and familial cystic nephroma</a></div><div class="wp-workCard_item"><span>Journal of Medical Genetics</span><span>, 2010</span></div><div class="wp-workCard_item"><span class="js-work-more-abstract-truncated">Multilocular cystic nephroma (CN) is a benign kidney tumour and is part of a family of kidney neo...</span><a class="js-work-more-abstract" data-broccoli-component="work_strip.more_abstract" data-click-track="profile-work-strip-more-abstract" href="javascript:;"><span> more </span><span><i class="fa fa-caret-down"></i></span></a><span class="js-work-more-abstract-untruncated hidden">Multilocular cystic nephroma (CN) is a benign kidney tumour and is part of a family of kidney neoplasms including cystic partially differentiated nephroblastoma and Wilms tumour (WT). CN is rarely familial or bilateral, but it occurs in about 10% of families where pleuropulmonary blastoma (PPB) is present. Recently, germline mutations in DICER1 were found in familial PPB. To search for DICER1 mutations in two families with familial CN; PPB was present in one family. Additionally, to test germline DNA from 50 children with sporadic WT for DICER1 mutations. Both families with multiple CN were found to have mutations in DICER1 leading to premature stop codons, predicted to result in loss of the ribonuclease and dsRNA binding domains. These domains are essential to the function of DICER1. No germline mutations were found in any of the 50 children who had developed WT. It has been established that DICER1 mutations cause familial CN and may be implicated in bilateral CN. No germline mutations were found in the patients with WT, suggesting that DICER1 mutations are unlikely to have a major role in the aetiology of sporadic WT. These results provide further evidence implicating miRNA dysregulation in tumourigenesis.</span></div><div class="wp-workCard_item wp-workCard--actions"><span class="work-strip-bookmark-button-container"></span><span class="wp-workCard--action visible-if-viewed-by-owner inline-block" style="display: none;"><span class="js-profile-work-strip-edit-button-wrapper profile-work-strip-edit-button-wrapper" data-work-id="12632505"><a class="js-profile-work-strip-edit-button" tabindex="0"><span><i class="fa fa-pencil"></i></span><span>Edit</span></a></span></span><span id="work-strip-rankings-button-container"></span></div><div class="wp-workCard_item wp-workCard--stats"><span><span><span class="js-view-count view-count u-mr2x" data-work-id="12632505"><i class="fa fa-spinner fa-spin"></i></span><script>$(function () { var workId = 12632505; window.Academia.workViewCountsFetcher.queue(workId, function (count) { var description = window.$h.commaizeInt(count) + " " + window.$h.pluralize(count, 'View'); $(".js-view-count[data-work-id=12632505]").text(description); $(".js-view-count[data-work-id=12632505]").attr('title', description).tooltip(); }); });</script></span></span><span><span class="percentile-widget hidden"><span class="u-mr2x work-percentile"></span></span><script>$(function () { var workId = 12632505; window.Academia.workPercentilesFetcher.queue(workId, function (percentileText) { var container = $(".js-work-strip[data-work-id='12632505']"); container.find('.work-percentile').text(percentileText.charAt(0).toUpperCase() + percentileText.slice(1)); container.find('.percentile-widget').show(); container.find('.percentile-widget').removeClass('hidden'); }); });</script></span><span><script>$(function() { new Works.PaperRankView({ workId: 12632505, container: "", }); });</script></span></div><div id="work-strip-premium-row-container"></div></div></div><script> require.config({ waitSeconds: 90 })(["https://a.academia-assets.com/assets/wow_profile-f77ea15d77ce96025a6048a514272ad8becbad23c641fc2b3bd6e24ca6ff1932.js","https://a.academia-assets.com/assets/work_edit-ad038b8c047c1a8d4fa01b402d530ff93c45fee2137a149a4a5398bc8ad67560.js"], function() { // from javascript_helper.rb var dispatcherData = {} if (false){ window.WowProfile.dispatcher = window.WowProfile.dispatcher || _.clone(Backbone.Events); dispatcherData = { dispatcher: window.WowProfile.dispatcher, downloadLinkId: "-1" } } $('.js-work-strip[data-work-id=12632505]').each(function() { if (!$(this).data('initialized')) { new WowProfile.WorkStripView({ el: this, workJSON: {"id":12632505,"title":"Germline DICER1 mutations and familial cystic nephroma","translated_title":"","metadata":{"abstract":"Multilocular cystic nephroma (CN) is a benign kidney tumour and is part of a family of kidney neoplasms including cystic partially differentiated nephroblastoma and Wilms tumour (WT). CN is rarely familial or bilateral, but it occurs in about 10% of families where pleuropulmonary blastoma (PPB) is present. Recently, germline mutations in DICER1 were found in familial PPB. To search for DICER1 mutations in two families with familial CN; PPB was present in one family. Additionally, to test germline DNA from 50 children with sporadic WT for DICER1 mutations. Both families with multiple CN were found to have mutations in DICER1 leading to premature stop codons, predicted to result in loss of the ribonuclease and dsRNA binding domains. These domains are essential to the function of DICER1. No germline mutations were found in any of the 50 children who had developed WT. It has been established that DICER1 mutations cause familial CN and may be implicated in bilateral CN. No germline mutations were found in the patients with WT, suggesting that DICER1 mutations are unlikely to have a major role in the aetiology of sporadic WT. These results provide further evidence implicating miRNA dysregulation in tumourigenesis.","publication_date":{"day":null,"month":null,"year":2010,"errors":{}},"publication_name":"Journal of Medical Genetics"},"translated_abstract":"Multilocular cystic nephroma (CN) is a benign kidney tumour and is part of a family of kidney neoplasms including cystic partially differentiated nephroblastoma and Wilms tumour (WT). CN is rarely familial or bilateral, but it occurs in about 10% of families where pleuropulmonary blastoma (PPB) is present. Recently, germline mutations in DICER1 were found in familial PPB. To search for DICER1 mutations in two families with familial CN; PPB was present in one family. Additionally, to test germline DNA from 50 children with sporadic WT for DICER1 mutations. Both families with multiple CN were found to have mutations in DICER1 leading to premature stop codons, predicted to result in loss of the ribonuclease and dsRNA binding domains. These domains are essential to the function of DICER1. No germline mutations were found in any of the 50 children who had developed WT. It has been established that DICER1 mutations cause familial CN and may be implicated in bilateral CN. No germline mutations were found in the patients with WT, suggesting that DICER1 mutations are unlikely to have a major role in the aetiology of sporadic WT. These results provide further evidence implicating miRNA dysregulation in tumourigenesis.","internal_url":"https://www.academia.edu/12632505/Germline_DICER1_mutations_and_familial_cystic_nephroma","translated_internal_url":"","created_at":"2015-05-27T09:37:34.799-07:00","preview_url":null,"current_user_can_edit":null,"current_user_is_owner":null,"owner_id":31600762,"coauthors_can_edit":true,"document_type":"paper","co_author_tags":[],"downloadable_attachments":[],"slug":"Germline_DICER1_mutations_and_familial_cystic_nephroma","translated_slug":"","page_count":null,"language":"en","content_type":"Work","owner":{"id":31600762,"first_name":"Nancy","middle_initials":null,"last_name":"Hamel","page_name":"NancyHamel","domain_name":"independent","created_at":"2015-05-27T09:36:34.282-07:00","display_name":"Nancy Hamel","url":"https://independent.academia.edu/NancyHamel"},"attachments":[],"research_interests":[{"id":156,"name":"Genetics","url":"https://www.academia.edu/Documents/in/Genetics"},{"id":2568,"name":"Medical Genetics","url":"https://www.academia.edu/Documents/in/Medical_Genetics"},{"id":6574,"name":"Family","url":"https://www.academia.edu/Documents/in/Family"},{"id":22506,"name":"Adolescent","url":"https://www.academia.edu/Documents/in/Adolescent"},{"id":47884,"name":"Biological Sciences","url":"https://www.academia.edu/Documents/in/Biological_Sciences"},{"id":64933,"name":"Child","url":"https://www.academia.edu/Documents/in/Child"},{"id":74780,"name":"Mutation","url":"https://www.academia.edu/Documents/in/Mutation"},{"id":133057,"name":"Young Adult","url":"https://www.academia.edu/Documents/in/Young_Adult"},{"id":134346,"name":"Infant","url":"https://www.academia.edu/Documents/in/Infant"},{"id":188349,"name":"Pedigree","url":"https://www.academia.edu/Documents/in/Pedigree"},{"id":809882,"name":"Base Sequence","url":"https://www.academia.edu/Documents/in/Base_Sequence"},{"id":2036633,"name":"Medical","url":"https://www.academia.edu/Documents/in/Medical"},{"id":2467566,"name":"Molecular Sequence Data","url":"https://www.academia.edu/Documents/in/Molecular_Sequence_Data"}],"urls":[]}, dispatcherData: dispatcherData }); $(this).data('initialized', true); } }); $a.trackClickSource(".js-work-strip-work-link", "profile_work_strip") }); </script> <div class="js-work-strip profile--work_container" data-work-id="12632504"><div class="profile--work_thumbnail hidden-xs"><a class="js-work-strip-work-link" data-click-track="profile-work-strip-thumbnail" href="https://www.academia.edu/12632504/Mixed_Ovarian_Germ_Cell_Tumor_in_a_BRCA2_Mutation_Carrier"><img alt="Research paper thumbnail of Mixed Ovarian Germ Cell Tumor in a BRCA2 Mutation Carrier" class="work-thumbnail" src="https://a.academia-assets.com/images/blank-paper.jpg" /></a></div><div class="wp-workCard wp-workCard_itemContainer"><div class="wp-workCard_item wp-workCard--title"><a class="js-work-strip-work-link text-gray-darker" data-click-track="profile-work-strip-title" href="https://www.academia.edu/12632504/Mixed_Ovarian_Germ_Cell_Tumor_in_a_BRCA2_Mutation_Carrier">Mixed Ovarian Germ Cell Tumor in a BRCA2 Mutation Carrier</a></div><div class="wp-workCard_item"><span>International Journal of Gynecological Pathology</span><span>, 2007</span></div><div class="wp-workCard_item"><span class="js-work-more-abstract-truncated">BRCA2 germ-line mutations confer an increased risk of developing breast and ovarian cancer. We re...</span><a class="js-work-more-abstract" data-broccoli-component="work_strip.more_abstract" data-click-track="profile-work-strip-more-abstract" href="javascript:;"><span> more </span><span><i class="fa fa-caret-down"></i></span></a><span class="js-work-more-abstract-untruncated hidden">BRCA2 germ-line mutations confer an increased risk of developing breast and ovarian cancer. We report the occurrence of a mixed ovarian germ cell tumor (GCT) (50% embryonal carcinoma, 20%-25% choriocarcinoma, 10%-15% dysgerminoma, and 10%-15% immature teratoma) in a 33-year-old Ashkenazi Jewish woman, carrier of the BRCA2:6174delT mutation. The mutation is also present in the patient&amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;#39;s father, who was diagnosed with breast cancer at age 59 and with prostate cancer at age 69. This is the first report of a GCT in a BRCA2 mutation carrier; there was one previous report of an ovarian dysgerminoma in a BRCA1 carrier. Molecular analysis of the proband&amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;#39;s tumor DNA revealed there was no loss of heterozygosity of the wild-type allele in the tumor, as is usually the case for epithelial BRCA-related ovarian tumors. This suggests either that biallelic inactivation of BRCA2 is not required for GCT development or that this is a chance event unrelated to the presence of the mutation.</span></div><div class="wp-workCard_item wp-workCard--actions"><span class="work-strip-bookmark-button-container"></span><span class="wp-workCard--action visible-if-viewed-by-owner inline-block" style="display: none;"><span class="js-profile-work-strip-edit-button-wrapper profile-work-strip-edit-button-wrapper" data-work-id="12632504"><a class="js-profile-work-strip-edit-button" tabindex="0"><span><i class="fa fa-pencil"></i></span><span>Edit</span></a></span></span><span id="work-strip-rankings-button-container"></span></div><div class="wp-workCard_item wp-workCard--stats"><span><span><span class="js-view-count view-count u-mr2x" data-work-id="12632504"><i class="fa fa-spinner fa-spin"></i></span><script>$(function () { var workId = 12632504; window.Academia.workViewCountsFetcher.queue(workId, function (count) { var description = window.$h.commaizeInt(count) + " " + window.$h.pluralize(count, 'View'); $(".js-view-count[data-work-id=12632504]").text(description); $(".js-view-count[data-work-id=12632504]").attr('title', description).tooltip(); }); });</script></span></span><span><span class="percentile-widget hidden"><span class="u-mr2x work-percentile"></span></span><script>$(function () { var workId = 12632504; window.Academia.workPercentilesFetcher.queue(workId, function (percentileText) { var container = $(".js-work-strip[data-work-id='12632504']"); container.find('.work-percentile').text(percentileText.charAt(0).toUpperCase() + percentileText.slice(1)); container.find('.percentile-widget').show(); container.find('.percentile-widget').removeClass('hidden'); }); });</script></span><span><script>$(function() { new Works.PaperRankView({ workId: 12632504, container: "", }); });</script></span></div><div id="work-strip-premium-row-container"></div></div></div><script> require.config({ waitSeconds: 90 })(["https://a.academia-assets.com/assets/wow_profile-f77ea15d77ce96025a6048a514272ad8becbad23c641fc2b3bd6e24ca6ff1932.js","https://a.academia-assets.com/assets/work_edit-ad038b8c047c1a8d4fa01b402d530ff93c45fee2137a149a4a5398bc8ad67560.js"], function() { // from javascript_helper.rb var dispatcherData = {} if (false){ window.WowProfile.dispatcher = window.WowProfile.dispatcher || _.clone(Backbone.Events); dispatcherData = { dispatcher: window.WowProfile.dispatcher, downloadLinkId: "-1" } } $('.js-work-strip[data-work-id=12632504]').each(function() { if (!$(this).data('initialized')) { new WowProfile.WorkStripView({ el: this, workJSON: {"id":12632504,"title":"Mixed Ovarian Germ Cell Tumor in a BRCA2 Mutation Carrier","translated_title":"","metadata":{"abstract":"BRCA2 germ-line mutations confer an increased risk of developing breast and ovarian cancer. We report the occurrence of a mixed ovarian germ cell tumor (GCT) (50% embryonal carcinoma, 20%-25% choriocarcinoma, 10%-15% dysgerminoma, and 10%-15% immature teratoma) in a 33-year-old Ashkenazi Jewish woman, carrier of the BRCA2:6174delT mutation. The mutation is also present in the patient\u0026amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;#39;s father, who was diagnosed with breast cancer at age 59 and with prostate cancer at age 69. This is the first report of a GCT in a BRCA2 mutation carrier; there was one previous report of an ovarian dysgerminoma in a BRCA1 carrier. Molecular analysis of the proband\u0026amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;#39;s tumor DNA revealed there was no loss of heterozygosity of the wild-type allele in the tumor, as is usually the case for epithelial BRCA-related ovarian tumors. This suggests either that biallelic inactivation of BRCA2 is not required for GCT development or that this is a chance event unrelated to the presence of the mutation.","publication_date":{"day":null,"month":null,"year":2007,"errors":{}},"publication_name":"International Journal of Gynecological Pathology"},"translated_abstract":"BRCA2 germ-line mutations confer an increased risk of developing breast and ovarian cancer. We report the occurrence of a mixed ovarian germ cell tumor (GCT) (50% embryonal carcinoma, 20%-25% choriocarcinoma, 10%-15% dysgerminoma, and 10%-15% immature teratoma) in a 33-year-old Ashkenazi Jewish woman, carrier of the BRCA2:6174delT mutation. The mutation is also present in the patient\u0026amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;#39;s father, who was diagnosed with breast cancer at age 59 and with prostate cancer at age 69. This is the first report of a GCT in a BRCA2 mutation carrier; there was one previous report of an ovarian dysgerminoma in a BRCA1 carrier. Molecular analysis of the proband\u0026amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;#39;s tumor DNA revealed there was no loss of heterozygosity of the wild-type allele in the tumor, as is usually the case for epithelial BRCA-related ovarian tumors. This suggests either that biallelic inactivation of BRCA2 is not required for GCT development or that this is a chance event unrelated to the presence of the mutation.","internal_url":"https://www.academia.edu/12632504/Mixed_Ovarian_Germ_Cell_Tumor_in_a_BRCA2_Mutation_Carrier","translated_internal_url":"","created_at":"2015-05-27T09:37:34.684-07:00","preview_url":null,"current_user_can_edit":null,"current_user_is_owner":null,"owner_id":31600762,"coauthors_can_edit":true,"document_type":"paper","co_author_tags":[],"downloadable_attachments":[],"slug":"Mixed_Ovarian_Germ_Cell_Tumor_in_a_BRCA2_Mutation_Carrier","translated_slug":"","page_count":null,"language":"en","content_type":"Work","owner":{"id":31600762,"first_name":"Nancy","middle_initials":null,"last_name":"Hamel","page_name":"NancyHamel","domain_name":"independent","created_at":"2015-05-27T09:36:34.282-07:00","display_name":"Nancy Hamel","url":"https://independent.academia.edu/NancyHamel"},"attachments":[],"research_interests":[{"id":156,"name":"Genetics","url":"https://www.academia.edu/Documents/in/Genetics"},{"id":74780,"name":"Mutation","url":"https://www.academia.edu/Documents/in/Mutation"},{"id":121508,"name":"Jews","url":"https://www.academia.edu/Documents/in/Jews"},{"id":188349,"name":"Pedigree","url":"https://www.academia.edu/Documents/in/Pedigree"},{"id":339107,"name":"Gynecology","url":"https://www.academia.edu/Documents/in/Gynecology"},{"id":883404,"name":"Teratoma","url":"https://www.academia.edu/Documents/in/Teratoma"}],"urls":[]}, dispatcherData: dispatcherData }); $(this).data('initialized', true); } }); $a.trackClickSource(".js-work-strip-work-link", "profile_work_strip") }); </script> <div class="js-work-strip profile--work_container" data-work-id="12632503"><div class="profile--work_thumbnail hidden-xs"><a class="js-work-strip-work-link" data-click-track="profile-work-strip-thumbnail" href="https://www.academia.edu/12632503/Increased_risk_of_head_and_neck_cancer_in_association_withGSTT1_nullizygosity_for_individuals_with_low_exposure_to_tobacco"><img alt="Research paper thumbnail of Increased risk of head and neck cancer in association withGSTT1 nullizygosity for individuals with low exposure to tobacco" class="work-thumbnail" src="https://attachments.academia-assets.com/46037448/thumbnails/1.jpg" /></a></div><div class="wp-workCard wp-workCard_itemContainer"><div class="wp-workCard_item wp-workCard--title"><a class="js-work-strip-work-link text-gray-darker" data-click-track="profile-work-strip-title" href="https://www.academia.edu/12632503/Increased_risk_of_head_and_neck_cancer_in_association_withGSTT1_nullizygosity_for_individuals_with_low_exposure_to_tobacco">Increased risk of head and neck cancer in association withGSTT1 nullizygosity for individuals with low exposure to tobacco</a></div><div class="wp-workCard_item"><span>International Journal of Cancer</span><span>, 2000</span></div><div class="wp-workCard_item wp-workCard--actions"><span class="work-strip-bookmark-button-container"></span><a id="1513315ffe2cf3643502747dbdeeeda7" class="wp-workCard--action" rel="nofollow" data-click-track="profile-work-strip-download" data-download="{"attachment_id":46037448,"asset_id":12632503,"asset_type":"Work","button_location":"profile"}" href="https://www.academia.edu/attachments/46037448/download_file?st=MTczMjk5MzEwOCw4LjIyMi4yMDguMTQ2&st=MTczMjk5MzEwOCw4LjIyMi4yMDguMTQ2&s=profile"><span><i class="fa fa-arrow-down"></i></span><span>Download</span></a><span class="wp-workCard--action visible-if-viewed-by-owner inline-block" style="display: none;"><span class="js-profile-work-strip-edit-button-wrapper profile-work-strip-edit-button-wrapper" data-work-id="12632503"><a class="js-profile-work-strip-edit-button" tabindex="0"><span><i class="fa fa-pencil"></i></span><span>Edit</span></a></span></span><span id="work-strip-rankings-button-container"></span></div><div class="wp-workCard_item wp-workCard--stats"><span><span><span class="js-view-count view-count u-mr2x" data-work-id="12632503"><i class="fa fa-spinner fa-spin"></i></span><script>$(function () { var workId = 12632503; 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dispatcherData = { dispatcher: window.WowProfile.dispatcher, downloadLinkId: "1513315ffe2cf3643502747dbdeeeda7" } } $('.js-work-strip[data-work-id=12632503]').each(function() { if (!$(this).data('initialized')) { new WowProfile.WorkStripView({ el: this, workJSON: {"id":12632503,"title":"Increased risk of head and neck cancer in association withGSTT1 nullizygosity for individuals with low exposure to tobacco","translated_title":"","metadata":{"grobid_abstract":"Increased risk of head and neck cancer in association with GSTT1 nullizygosity for individuals with low exposure to tobacco Tobacco and alcohol are important contributing factors to the development of squamous cell carcinoma of the head and neck (SCCHN) . However, recent case-control studies indicate that SCCHN is also associated with a family history of this cancer . In addition, second primary tumors, which are often a hallmark of inherited susceptibility to cancer, occur in up to 30% of patients with SCCHN (Day and Blot, 1992;. A family history of SCCHN is should involve selecting large groups of SCCHN patients and well-matched controls with low levels of tobacco and alcohol exposure to perform such association studies.","publication_date":{"day":null,"month":null,"year":2000,"errors":{}},"publication_name":"International Journal of 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$a.trackClickSource(".js-work-strip-work-link", "profile_work_strip") }); </script> <div class="js-work-strip profile--work_container" data-work-id="12632502"><div class="profile--work_thumbnail hidden-xs"><a class="js-work-strip-work-link" data-click-track="profile-work-strip-thumbnail" href="https://www.academia.edu/12632502/Extending_the_phenotypes_associated_with_DICER1_mutations"><img alt="Research paper thumbnail of Extending the phenotypes associated with DICER1 mutations" class="work-thumbnail" src="https://attachments.academia-assets.com/46037444/thumbnails/1.jpg" /></a></div><div class="wp-workCard wp-workCard_itemContainer"><div class="wp-workCard_item wp-workCard--title"><a class="js-work-strip-work-link text-gray-darker" data-click-track="profile-work-strip-title" href="https://www.academia.edu/12632502/Extending_the_phenotypes_associated_with_DICER1_mutations">Extending the phenotypes associated with DICER1 mutations</a></div><div class="wp-workCard_item"><span>Human 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$(this).data('initialized', true); } }); $a.trackClickSource(".js-work-strip-work-link", "profile_work_strip") }); </script> <div class="js-work-strip profile--work_container" data-work-id="12525762"><div class="profile--work_thumbnail hidden-xs"><a class="js-work-strip-work-link" data-click-track="profile-work-strip-thumbnail" href="https://www.academia.edu/12525762/Functional_redundancy_of_exon_12_of_BRCA2_revealed_by_a_comprehensive_analysis_of_the_c_6853A_G_p_I2285V_variant"><img alt="Research paper thumbnail of Functional redundancy of exon 12 of BRCA2 revealed by a comprehensive analysis of the c.6853A>G (p.I2285V) variant" class="work-thumbnail" src="https://attachments.academia-assets.com/46115797/thumbnails/1.jpg" /></a></div><div class="wp-workCard wp-workCard_itemContainer"><div class="wp-workCard_item wp-workCard--title"><a class="js-work-strip-work-link text-gray-darker" data-click-track="profile-work-strip-title" href="https://www.academia.edu/12525762/Functional_redundancy_of_exon_12_of_BRCA2_revealed_by_a_comprehensive_analysis_of_the_c_6853A_G_p_I2285V_variant">Functional redundancy of exon 12 of BRCA2 revealed by a comprehensive analysis of the c.6853A>G (p.I2285V) variant</a></div><div class="wp-workCard_item wp-workCard--coauthors"><span>by </span><span><a class="" data-click-track="profile-work-strip-authors" href="https://mcgill.academia.edu/GeorgeChong">George Chong</a> and <a class="" data-click-track="profile-work-strip-authors" href="https://independent.academia.edu/NancyHamel">Nancy Hamel</a></span></div><div class="wp-workCard_item"><span>Human Mutation</span><span>, 2009</span></div><div class="wp-workCard_item wp-workCard--actions"><span class="work-strip-bookmark-button-container"></span><a id="85c75def12970f3b827845f905467b52" class="wp-workCard--action" rel="nofollow" data-click-track="profile-work-strip-download" data-download="{"attachment_id":46115797,"asset_id":12525762,"asset_type":"Work","button_location":"profile"}" href="https://www.academia.edu/attachments/46115797/download_file?st=MTczMjk5MzEwOCw4LjIyMi4yMDguMTQ2&st=MTczMjk5MzEwOCw4LjIyMi4yMDguMTQ2&s=profile"><span><i class="fa fa-arrow-down"></i></span><span>Download</span></a><span class="wp-workCard--action visible-if-viewed-by-owner inline-block" style="display: none;"><span class="js-profile-work-strip-edit-button-wrapper profile-work-strip-edit-button-wrapper" data-work-id="12525762"><a class="js-profile-work-strip-edit-button" tabindex="0"><span><i class="fa fa-pencil"></i></span><span>Edit</span></a></span></span><span id="work-strip-rankings-button-container"></span></div><div class="wp-workCard_item wp-workCard--stats"><span><span><span class="js-view-count view-count u-mr2x" data-work-id="12525762"><i class="fa fa-spinner fa-spin"></i></span><script>$(function () { var workId = 12525762; 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We observed that BRCA2: c.6853A\u003eG (p.I2285V) (Brest cancer Information Core [BIC] name: 7081A\u003eG; http://nhgri.nih.gov/bic/) co-occurs in trans with the founder mutation c.5946delT (p.S1982RfsX22) (BIC name: 6174delT), supporting the published classification of p.I2285V as a neutral variant. However, we also noted that when compared with wild-type BRCA2, p.I2285V resulted in increased exclusion of exon 12. Functional assay using allelic complementation in Brca2-null mouse embryonic stem cells revealed that p.I2285V, an allele with exon 12 deleted and wild-type BRCA2 were all phenotypically indistinguishable, as measured by sensitivity to DNA-damaging agents, effect on irradiation-induced Rad51 foci formation, homologous recombination and overall genomic integrity. An allele frequency study showed the p.I2285V variant was identified in 15/722 (2.1%) Ashkenazi Jewish cases and 10/475 (2.1%) ethnically-matched controls, odds ratio: 0.99 (95% confidence interval: 0.44-2.21), P = 0.97. Thus the p.I2285V variant is not associated with an increased risk for breast cancer. Taken together, our clinical and functional studies strongly suggest that exon 12 is functionally redundant and therefore missense variants in this exon are likely to be neutral. Such comprehensive functional studies will be important adjuncts to genetic studies of variants.","publication_date":{"day":null,"month":null,"year":2009,"errors":{}},"publication_name":"Human Mutation","grobid_abstract_attachment_id":46115797},"translated_abstract":null,"internal_url":"https://www.academia.edu/12525762/Functional_redundancy_of_exon_12_of_BRCA2_revealed_by_a_comprehensive_analysis_of_the_c_6853A_G_p_I2285V_variant","translated_internal_url":"","created_at":"2015-05-22T06:17:34.953-07:00","preview_url":null,"current_user_can_edit":null,"current_user_is_owner":null,"owner_id":31414531,"coauthors_can_edit":true,"document_type":"paper","co_author_tags":[{"id":605592,"work_id":12525762,"tagging_user_id":31414531,"tagged_user_id":31600762,"co_author_invite_id":231411,"email":"n***l@mail.mcgill.ca","display_order":null,"name":"Nancy Hamel","title":"Functional redundancy of exon 12 of BRCA2 revealed by a comprehensive analysis of the c.6853A\u003eG (p.I2285V) variant"}],"downloadable_attachments":[{"id":46115797,"title":"","file_type":"pdf","scribd_thumbnail_url":"https://attachments.academia-assets.com/46115797/thumbnails/1.jpg","file_name":"Functional_redundancy_of_exon_12_of_BRCA20160531-8904-adqu7g.pdf","download_url":"https://www.academia.edu/attachments/46115797/download_file?st=MTczMjk5MzEwOCw4LjIyMi4yMDguMTQ2&st=MTczMjk5MzEwOCw4LjIyMi4yMDguMTQ2&","bulk_download_file_name":"Functional_redundancy_of_exon_12_of_BRCA.pdf","bulk_download_url":"https://d1wqtxts1xzle7.cloudfront.net/46115797/Functional_redundancy_of_exon_12_of_BRCA20160531-8904-adqu7g-libre.pdf?1464747169=\u0026response-content-disposition=attachment%3B+filename%3DFunctional_redundancy_of_exon_12_of_BRCA.pdf\u0026Expires=1732996708\u0026Signature=ZtKIYx~KTOtjI33mQEG59Gn1t6vQLF0dj86dUcAe~1WA5hoUsE-y5JlvQN7tENdOXFvcZsl0hxHEsZmshfklq~8owzE4Uw9TGcXuA7IRX17O8PErWgfY6jHRJIAiRe1ec361smSO4N24naa1KtHp7wlBDWJ1hGXlH5KfaYxCqsmP9rvwuv-i9zwbKLJLkogoiIyjUxNQzgjswn9Ro0djF79nPSfkTB3IRCcrTLeJePczBQjq9Qq4qtVjO5vF9tVISgfuSQDSd7lkSDBq1vg7-65gTThMls7PoHvH9L1JuQgwifPIhetFRbHQNWYyW50RmS2Jl8Em3VZP6-Jz7hoRjg__\u0026Key-Pair-Id=APKAJLOHF5GGSLRBV4ZA"}],"slug":"Functional_redundancy_of_exon_12_of_BRCA2_revealed_by_a_comprehensive_analysis_of_the_c_6853A_G_p_I2285V_variant","translated_slug":"","page_count":15,"language":"en","content_type":"Work","owner":{"id":31414531,"first_name":"George","middle_initials":null,"last_name":"Chong","page_name":"GeorgeChong","domain_name":"mcgill","created_at":"2015-05-22T06:13:45.610-07:00","display_name":"George Chong","url":"https://mcgill.academia.edu/GeorgeChong"},"attachments":[{"id":46115797,"title":"","file_type":"pdf","scribd_thumbnail_url":"https://attachments.academia-assets.com/46115797/thumbnails/1.jpg","file_name":"Functional_redundancy_of_exon_12_of_BRCA20160531-8904-adqu7g.pdf","download_url":"https://www.academia.edu/attachments/46115797/download_file?st=MTczMjk5MzEwOCw4LjIyMi4yMDguMTQ2&st=MTczMjk5MzEwOCw4LjIyMi4yMDguMTQ2&","bulk_download_file_name":"Functional_redundancy_of_exon_12_of_BRCA.pdf","bulk_download_url":"https://d1wqtxts1xzle7.cloudfront.net/46115797/Functional_redundancy_of_exon_12_of_BRCA20160531-8904-adqu7g-libre.pdf?1464747169=\u0026response-content-disposition=attachment%3B+filename%3DFunctional_redundancy_of_exon_12_of_BRCA.pdf\u0026Expires=1732996708\u0026Signature=ZtKIYx~KTOtjI33mQEG59Gn1t6vQLF0dj86dUcAe~1WA5hoUsE-y5JlvQN7tENdOXFvcZsl0hxHEsZmshfklq~8owzE4Uw9TGcXuA7IRX17O8PErWgfY6jHRJIAiRe1ec361smSO4N24naa1KtHp7wlBDWJ1hGXlH5KfaYxCqsmP9rvwuv-i9zwbKLJLkogoiIyjUxNQzgjswn9Ro0djF79nPSfkTB3IRCcrTLeJePczBQjq9Qq4qtVjO5vF9tVISgfuSQDSd7lkSDBq1vg7-65gTThMls7PoHvH9L1JuQgwifPIhetFRbHQNWYyW50RmS2Jl8Em3VZP6-Jz7hoRjg__\u0026Key-Pair-Id=APKAJLOHF5GGSLRBV4ZA"}],"research_interests":[{"id":156,"name":"Genetics","url":"https://www.academia.edu/Documents/in/Genetics"},{"id":41720,"name":"Human","url":"https://www.academia.edu/Documents/in/Human"},{"id":84760,"name":"Mice","url":"https://www.academia.edu/Documents/in/Mice"},{"id":244814,"name":"Clinical Sciences","url":"https://www.academia.edu/Documents/in/Clinical_Sciences"},{"id":577933,"name":"Genetic variation","url":"https://www.academia.edu/Documents/in/Genetic_variation"}],"urls":[]}, dispatcherData: dispatcherData }); 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Recently, a rare, recurrent mutation (G84E) in HOXB13 was reported to be associated with prostate cancer risk. Confirmation and characterization of this finding is necessary to potentially translate this information to the clinic. To examine this finding in a large international sample of prostate cancer families, we genotyped this mutation and 14 other SNPs in or flanking HOXB13 in 2,443 prostate cancer families recruited by the International Consortium for Prostate Cancer Genetics (ICPCG). At least one mutation carrier was found in 112 prostate cancer families (4.6 %), all of European descent. Within carrier families, the G84E mutation was more common in men with a diagnosis of K. A. Cooney and W. B. 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