CINXE.COM
(PDF) Germline RECQL mutations are associated with breast cancer susceptibility | Nancy Hamel - Academia.edu
<!DOCTYPE html> <html > <head> <meta charset="utf-8"> <meta rel="search" type="application/opensearchdescription+xml" href="/open_search.xml" title="Academia.edu"> <meta content="width=device-width, initial-scale=1" name="viewport"> <meta name="google-site-verification" content="bKJMBZA7E43xhDOopFZkssMMkBRjvYERV-NaN4R6mrs"> <meta name="csrf-param" content="authenticity_token" /> <meta name="csrf-token" content="85YTeGml9pa9ZZuw4Egh8FDKBiyllzwrkCoIMCqsHOHEF3K1peDKiBcuRcMJxAQoiUgfmJKBZRGsGjG9ROy3pA==" /> <meta name="citation_title" content="Germline RECQL mutations are associated with breast cancer susceptibility" /> <meta name="citation_publication_date" content="2015/01/01" /> <meta name="citation_journal_title" content="Nature Genetics" /> <meta name="citation_author" content="Nancy Hamel" /> <meta name="twitter:card" content="summary" /> <meta name="twitter:url" content="https://www.academia.edu/12632520/Germline_RECQL_mutations_are_associated_with_breast_cancer_susceptibility" /> <meta name="twitter:title" content="Germline RECQL mutations are associated with breast cancer susceptibility" /> <meta name="twitter:description" content="Academia.edu is a platform for academics to share research papers." /> <meta name="twitter:image" content="http://a.academia-assets.com/images/twitter-card.jpeg" /> <meta property="fb:app_id" content="2369844204" /> <meta property="og:type" content="article" /> <meta property="og:url" content="https://www.academia.edu/12632520/Germline_RECQL_mutations_are_associated_with_breast_cancer_susceptibility" /> <meta property="og:title" content="Germline RECQL mutations are associated with breast cancer susceptibility" /> <meta property="og:image" content="http://a.academia-assets.com/images/open-graph-icons/fb-paper.gif" /> <meta property="og:description" content="Germline RECQL mutations are associated with breast cancer susceptibility" /> <meta property="article:author" content="https://independent.academia.edu/NancyHamel" /> <meta name="description" content="Germline RECQL mutations are associated with breast cancer susceptibility" /> <title>(PDF) Germline RECQL mutations are associated with breast cancer susceptibility | Nancy Hamel - Academia.edu</title> <link rel="canonical" href="https://www.academia.edu/22607704/Germline_RECQL_mutations_are_associated_with_breast_cancer_susceptibility" /> <script async src="https://www.googletagmanager.com/gtag/js?id=G-5VKX33P2DS"></script> <script> window.dataLayer = window.dataLayer || []; function gtag(){dataLayer.push(arguments);} gtag('js', new Date()); gtag('config', 'G-5VKX33P2DS', { cookie_domain: 'academia.edu', send_page_view: false, }); gtag('event', 'page_view', { 'controller': "single_work", 'action': "show", 'controller_action': 'single_work#show', 'logged_in': 'false', 'edge': 'unknown', // Send nil if there is no A/B test bucket, in case some records get logged // with missing data - that way we can distinguish between the two cases. // ab_test_bucket should be of the form <ab_test_name>:<bucket> 'ab_test_bucket': null, }) </script> <script> var $controller_name = 'single_work'; var $action_name = "show"; var $rails_env = 'production'; var $app_rev = '7197f109c5c1a17ef1ecb637d00501ccfd7d8d46'; var $domain = 'academia.edu'; var $app_host = "academia.edu"; var $asset_host = "academia-assets.com"; var $start_time = new Date().getTime(); var $recaptcha_key = "6LdxlRMTAAAAADnu_zyLhLg0YF9uACwz78shpjJB"; var $recaptcha_invisible_key = "6Lf3KHUUAAAAACggoMpmGJdQDtiyrjVlvGJ6BbAj"; var $disableClientRecordHit = false; </script> <script> window.require = { config: function() { return function() {} } } </script> <script> window.Aedu = window.Aedu || {}; window.Aedu.hit_data = null; window.Aedu.serverRenderTime = new Date(1733169559000); window.Aedu.timeDifference = new Date().getTime() - 1733169559000; </script> <script type="application/ld+json">{"@context":"https://schema.org","@type":"ScholarlyArticle","abstract":null,"author":[{"@context":"https://schema.org","@type":"Person","name":"Nancy Hamel"}],"contributor":[],"dateCreated":"2015-05-27","dateModified":null,"datePublished":"2015-01-01","headline":"Germline RECQL mutations are associated with breast cancer susceptibility","inLanguage":"en","keywords":["Biological Sciences","Humans","Female","Genetic Association Studies","Pedigree","Base Sequence","Case Control Studies","RecQ Helicases","Molecular Sequence Data"],"locationCreated":null,"publication":"Nature Genetics","publisher":{"@context":"https://schema.org","@type":"Organization","name":null},"image":null,"thumbnailUrl":null,"url":"https://www.academia.edu/12632520/Germline_RECQL_mutations_are_associated_with_breast_cancer_susceptibility","sourceOrganization":[{"@context":"https://schema.org","@type":"EducationalOrganization","name":null}]}</script><link rel="stylesheet" media="all" href="//a.academia-assets.com/assets/single_work_page/loswp-102fa537001ba4d8dcd921ad9bd56c474abc201906ea4843e7e7efe9dfbf561d.css" /><link rel="stylesheet" media="all" href="//a.academia-assets.com/assets/design_system/body-8d679e925718b5e8e4b18e9a4fab37f7eaa99e43386459376559080ac8f2856a.css" /><link rel="stylesheet" media="all" href="//a.academia-assets.com/assets/design_system/button-3cea6e0ad4715ed965c49bfb15dedfc632787b32ff6d8c3a474182b231146ab7.css" /><link rel="stylesheet" media="all" href="//a.academia-assets.com/assets/design_system/text_button-73590134e40cdb49f9abdc8e796cc00dc362693f3f0f6137d6cf9bb78c318ce7.css" /><link crossorigin="" href="https://fonts.gstatic.com/" rel="preconnect" /><link href="https://fonts.googleapis.com/css2?family=DM+Sans:ital,opsz,wght@0,9..40,100..1000;1,9..40,100..1000&family=Gupter:wght@400;500;700&family=IBM+Plex+Mono:wght@300;400&family=Material+Symbols+Outlined:opsz,wght,FILL,GRAD@20,400,0,0&display=swap" rel="stylesheet" /><link rel="stylesheet" media="all" href="//a.academia-assets.com/assets/design_system/common-10fa40af19d25203774df2d4a03b9b5771b45109c2304968038e88a81d1215c5.css" /> </head> <body> <div id='react-modal'></div> <div class="js-upgrade-ie-banner" style="display: none; text-align: center; padding: 8px 0; background-color: #ebe480;"><p style="color: #000; font-size: 12px; margin: 0 0 4px;">Academia.edu no longer supports Internet Explorer.</p><p style="color: #000; font-size: 12px; margin: 0;">To browse Academia.edu and the wider internet faster and more securely, please take a few seconds to <a href="https://www.academia.edu/upgrade-browser">upgrade your browser</a>.</p></div><script>// Show this banner for all versions of IE if (!!window.MSInputMethodContext || /(MSIE)/.test(navigator.userAgent)) { document.querySelector('.js-upgrade-ie-banner').style.display = 'block'; }</script> <div class="bootstrap login"><div class="modal fade login-modal" id="login-modal"><div class="login-modal-dialog modal-dialog"><div class="modal-content"><div class="modal-header"><button class="close close" data-dismiss="modal" type="button"><span aria-hidden="true">×</span><span class="sr-only">Close</span></button><h4 class="modal-title text-center"><strong>Log In</strong></h4></div><div class="modal-body"><div class="row"><div class="col-xs-10 col-xs-offset-1"><button class="btn btn-fb btn-lg btn-block btn-v-center-content" id="login-facebook-oauth-button"><svg style="float: left; width: 19px; line-height: 1em; margin-right: .3em;" aria-hidden="true" focusable="false" data-prefix="fab" data-icon="facebook-square" class="svg-inline--fa fa-facebook-square fa-w-14" role="img" xmlns="http://www.w3.org/2000/svg" viewBox="0 0 448 512"><path fill="currentColor" d="M400 32H48A48 48 0 0 0 0 80v352a48 48 0 0 0 48 48h137.25V327.69h-63V256h63v-54.64c0-62.15 37-96.48 93.67-96.48 27.14 0 55.52 4.84 55.52 4.84v61h-31.27c-30.81 0-40.42 19.12-40.42 38.73V256h68.78l-11 71.69h-57.78V480H400a48 48 0 0 0 48-48V80a48 48 0 0 0-48-48z"></path></svg><small><strong>Log in</strong> with <strong>Facebook</strong></small></button><br /><button class="btn btn-google btn-lg btn-block btn-v-center-content" id="login-google-oauth-button"><svg style="float: left; width: 22px; line-height: 1em; margin-right: .3em;" aria-hidden="true" focusable="false" data-prefix="fab" data-icon="google-plus" class="svg-inline--fa fa-google-plus fa-w-16" role="img" xmlns="http://www.w3.org/2000/svg" viewBox="0 0 512 512"><path fill="currentColor" d="M256,8C119.1,8,8,119.1,8,256S119.1,504,256,504,504,392.9,504,256,392.9,8,256,8ZM185.3,380a124,124,0,0,1,0-248c31.3,0,60.1,11,83,32.3l-33.6,32.6c-13.2-12.9-31.3-19.1-49.4-19.1-42.9,0-77.2,35.5-77.2,78.1S142.3,334,185.3,334c32.6,0,64.9-19.1,70.1-53.3H185.3V238.1H302.2a109.2,109.2,0,0,1,1.9,20.7c0,70.8-47.5,121.2-118.8,121.2ZM415.5,273.8v35.5H380V273.8H344.5V238.3H380V202.8h35.5v35.5h35.2v35.5Z"></path></svg><small><strong>Log in</strong> with <strong>Google</strong></small></button><br /><style type="text/css">.sign-in-with-apple-button { width: 100%; height: 52px; border-radius: 3px; border: 1px solid black; cursor: pointer; }</style><script src="https://appleid.cdn-apple.com/appleauth/static/jsapi/appleid/1/en_US/appleid.auth.js" type="text/javascript"></script><div class="sign-in-with-apple-button" data-border="false" data-color="white" id="appleid-signin"><span ="Sign Up with Apple" class="u-fs11"></span></div><script>AppleID.auth.init({ clientId: 'edu.academia.applesignon', scope: 'name email', redirectURI: 'https://www.academia.edu/sessions', state: "6674f6c62886b6118aa25e443f279c5ca28c6502b124e565fee8bd0b41517402", });</script><script>// Hacky way of checking if on fast loswp if (window.loswp == null) { (function() { const Google = window?.Aedu?.Auth?.OauthButton?.Login?.Google; const Facebook = window?.Aedu?.Auth?.OauthButton?.Login?.Facebook; if (Google) { new Google({ el: '#login-google-oauth-button', rememberMeCheckboxId: 'remember_me', track: null }); } if (Facebook) { new Facebook({ el: '#login-facebook-oauth-button', rememberMeCheckboxId: 'remember_me', track: null }); } })(); }</script></div></div></div><div class="modal-body"><div class="row"><div class="col-xs-10 col-xs-offset-1"><div class="hr-heading login-hr-heading"><span class="hr-heading-text">or</span></div></div></div></div><div class="modal-body"><div class="row"><div class="col-xs-10 col-xs-offset-1"><form class="js-login-form" action="https://www.academia.edu/sessions" accept-charset="UTF-8" method="post"><input name="utf8" type="hidden" value="✓" autocomplete="off" /><input type="hidden" name="authenticity_token" value="R8bFZu8ROYrkQzPowtl4afXIYS7WzB+sXAV9Ymkn0G1wR6SrI1QFlE4I7ZsrVV2xLEp4muHaRpZgNUTvB2d7KA==" autocomplete="off" /><div class="form-group"><label class="control-label" for="login-modal-email-input" style="font-size: 14px;">Email</label><input class="form-control" id="login-modal-email-input" name="login" type="email" /></div><div class="form-group"><label class="control-label" for="login-modal-password-input" style="font-size: 14px;">Password</label><input class="form-control" id="login-modal-password-input" name="password" type="password" /></div><input type="hidden" name="post_login_redirect_url" id="post_login_redirect_url" value="https://www.academia.edu/12632520/Germline_RECQL_mutations_are_associated_with_breast_cancer_susceptibility" autocomplete="off" /><div class="checkbox"><label><input type="checkbox" name="remember_me" id="remember_me" value="1" checked="checked" /><small style="font-size: 12px; margin-top: 2px; display: inline-block;">Remember me on this computer</small></label></div><br><input type="submit" name="commit" value="Log In" class="btn btn-primary btn-block btn-lg js-login-submit" data-disable-with="Log In" /></br></form><script>typeof window?.Aedu?.recaptchaManagedForm === 'function' && window.Aedu.recaptchaManagedForm( document.querySelector('.js-login-form'), document.querySelector('.js-login-submit') );</script><small style="font-size: 12px;"><br />or <a data-target="#login-modal-reset-password-container" data-toggle="collapse" href="javascript:void(0)">reset password</a></small><div class="collapse" id="login-modal-reset-password-container"><br /><div class="well margin-0x"><form class="js-password-reset-form" action="https://www.academia.edu/reset_password" accept-charset="UTF-8" method="post"><input name="utf8" type="hidden" value="✓" autocomplete="off" /><input type="hidden" name="authenticity_token" value="tXri/nKcf715DrpupIH7FLttQWXPuUr0NHNp1s2yZxKC+4MzvtlDo9NFZB1NDd7MYu9Y0fivE84IQ1Bbo/LMVw==" autocomplete="off" /><p>Enter the email address you signed up with and we'll email you a reset link.</p><div class="form-group"><input class="form-control" name="email" type="email" /></div><input class="btn btn-primary btn-block g-recaptcha js-password-reset-submit" data-sitekey="6Lf3KHUUAAAAACggoMpmGJdQDtiyrjVlvGJ6BbAj" type="submit" value="Email me a link" /></form></div></div><script> require.config({ waitSeconds: 90 })(["https://a.academia-assets.com/assets/collapse-45805421cf446ca5adf7aaa1935b08a3a8d1d9a6cc5d91a62a2a3a00b20b3e6a.js"], function() { // from javascript_helper.rb $("#login-modal-reset-password-container").on("shown.bs.collapse", function() { $(this).find("input[type=email]").focus(); }); }); </script> </div></div></div><div class="modal-footer"><div class="text-center"><small style="font-size: 12px;">Need an account? <a rel="nofollow" href="https://www.academia.edu/signup">Click here to sign up</a></small></div></div></div></div></div></div><script>// If we are on subdomain or non-bootstrapped page, redirect to login page instead of showing modal (function(){ if (typeof $ === 'undefined') return; var host = window.location.hostname; if ((host === $domain || host === "www."+$domain) && (typeof $().modal === 'function')) { $("#nav_log_in").click(function(e) { // Don't follow the link and open the modal e.preventDefault(); $("#login-modal").on('shown.bs.modal', function() { $(this).find("#login-modal-email-input").focus() }).modal('show'); }); } })()</script> <div id="fb-root"></div><script>window.fbAsyncInit = function() { FB.init({ appId: "2369844204", version: "v8.0", status: true, cookie: true, xfbml: true }); // Additional initialization code. if (window.InitFacebook) { // facebook.ts already loaded, set it up. window.InitFacebook(); } else { // Set a flag for facebook.ts to find when it loads. window.academiaAuthReadyFacebook = true; } };</script> <div id="google-root"></div><script>window.loadGoogle = function() { if (window.InitGoogle) { // google.ts already loaded, set it up. window.InitGoogle("331998490334-rsn3chp12mbkiqhl6e7lu2q0mlbu0f1b"); } else { // Set a flag for google.ts to use when it loads. window.GoogleClientID = "331998490334-rsn3chp12mbkiqhl6e7lu2q0mlbu0f1b"; } };</script> <div class="header--container" id="main-header-container"><div class="header--inner-container header--inner-container-ds2"><div class="header-ds2--left-wrapper"><div class="header-ds2--left-wrapper-inner"><a data-main-header-link-target="logo_home" href="https://www.academia.edu/"><img class="hide-on-desktop-redesign" style="height: 24px; width: 24px;" alt="Academia.edu" src="//a.academia-assets.com/images/academia-logo-redesign-2015-A.svg" width="24" height="24" /><img width="145.2" height="18" class="hide-on-mobile-redesign" style="height: 24px;" alt="Academia.edu" src="//a.academia-assets.com/images/academia-logo-redesign-2015.svg" /></a><div class="header--search-container header--search-container-ds2"><form class="js-SiteSearch-form select2-no-default-pills" action="https://www.academia.edu/search" accept-charset="UTF-8" method="get"><input name="utf8" type="hidden" value="✓" autocomplete="off" /><svg style="width: 14px; height: 14px;" aria-hidden="true" focusable="false" data-prefix="fas" data-icon="search" class="header--search-icon svg-inline--fa fa-search fa-w-16" role="img" xmlns="http://www.w3.org/2000/svg" viewBox="0 0 512 512"><path fill="currentColor" d="M505 442.7L405.3 343c-4.5-4.5-10.6-7-17-7H372c27.6-35.3 44-79.7 44-128C416 93.1 322.9 0 208 0S0 93.1 0 208s93.1 208 208 208c48.3 0 92.7-16.4 128-44v16.3c0 6.4 2.5 12.5 7 17l99.7 99.7c9.4 9.4 24.6 9.4 33.9 0l28.3-28.3c9.4-9.4 9.4-24.6.1-34zM208 336c-70.7 0-128-57.2-128-128 0-70.7 57.2-128 128-128 70.7 0 128 57.2 128 128 0 70.7-57.2 128-128 128z"></path></svg><input class="header--search-input header--search-input-ds2 js-SiteSearch-form-input" data-main-header-click-target="search_input" name="q" placeholder="Search" type="text" /></form></div></div></div><nav class="header--nav-buttons header--nav-buttons-ds2 js-main-nav"><a class="ds2-5-button ds2-5-button--secondary js-header-login-url header-button-ds2 header-login-ds2 hide-on-mobile-redesign" href="https://www.academia.edu/login" rel="nofollow">Log In</a><a class="ds2-5-button ds2-5-button--secondary header-button-ds2 hide-on-mobile-redesign" href="https://www.academia.edu/signup" rel="nofollow">Sign Up</a><button class="header--hamburger-button header--hamburger-button-ds2 hide-on-desktop-redesign js-header-hamburger-button"><div class="icon-bar"></div><div class="icon-bar" style="margin-top: 4px;"></div><div class="icon-bar" style="margin-top: 4px;"></div></button></nav></div><ul class="header--dropdown-container js-header-dropdown"><li class="header--dropdown-row"><a class="header--dropdown-link" href="https://www.academia.edu/login" rel="nofollow">Log In</a></li><li class="header--dropdown-row"><a class="header--dropdown-link" href="https://www.academia.edu/signup" rel="nofollow">Sign Up</a></li><li class="header--dropdown-row js-header-dropdown-expand-button"><button class="header--dropdown-button">more<svg aria-hidden="true" focusable="false" data-prefix="fas" data-icon="caret-down" class="header--dropdown-button-icon svg-inline--fa fa-caret-down fa-w-10" role="img" xmlns="http://www.w3.org/2000/svg" viewBox="0 0 320 512"><path fill="currentColor" d="M31.3 192h257.3c17.8 0 26.7 21.5 14.1 34.1L174.1 354.8c-7.8 7.8-20.5 7.8-28.3 0L17.2 226.1C4.6 213.5 13.5 192 31.3 192z"></path></svg></button></li><li><ul class="header--expanded-dropdown-container"><li class="header--dropdown-row"><a class="header--dropdown-link" href="https://www.academia.edu/about">About</a></li><li class="header--dropdown-row"><a class="header--dropdown-link" href="https://www.academia.edu/press">Press</a></li><li class="header--dropdown-row"><a class="header--dropdown-link" href="https://medium.com/@academia">Blog</a></li><li class="header--dropdown-row"><a class="header--dropdown-link" href="https://www.academia.edu/documents">Papers</a></li><li class="header--dropdown-row"><a class="header--dropdown-link" href="https://www.academia.edu/terms">Terms</a></li><li class="header--dropdown-row"><a class="header--dropdown-link" href="https://www.academia.edu/privacy">Privacy</a></li><li class="header--dropdown-row"><a class="header--dropdown-link" href="https://www.academia.edu/copyright">Copyright</a></li><li class="header--dropdown-row"><a class="header--dropdown-link" href="https://www.academia.edu/hiring"><svg aria-hidden="true" focusable="false" data-prefix="fas" data-icon="briefcase" class="header--dropdown-row-icon svg-inline--fa fa-briefcase fa-w-16" role="img" xmlns="http://www.w3.org/2000/svg" viewBox="0 0 512 512"><path fill="currentColor" d="M320 336c0 8.84-7.16 16-16 16h-96c-8.84 0-16-7.16-16-16v-48H0v144c0 25.6 22.4 48 48 48h416c25.6 0 48-22.4 48-48V288H320v48zm144-208h-80V80c0-25.6-22.4-48-48-48H176c-25.6 0-48 22.4-48 48v48H48c-25.6 0-48 22.4-48 48v80h512v-80c0-25.6-22.4-48-48-48zm-144 0H192V96h128v32z"></path></svg>We're Hiring!</a></li><li class="header--dropdown-row"><a class="header--dropdown-link" href="https://support.academia.edu/"><svg aria-hidden="true" focusable="false" data-prefix="fas" data-icon="question-circle" class="header--dropdown-row-icon svg-inline--fa fa-question-circle fa-w-16" role="img" xmlns="http://www.w3.org/2000/svg" viewBox="0 0 512 512"><path fill="currentColor" d="M504 256c0 136.997-111.043 248-248 248S8 392.997 8 256C8 119.083 119.043 8 256 8s248 111.083 248 248zM262.655 90c-54.497 0-89.255 22.957-116.549 63.758-3.536 5.286-2.353 12.415 2.715 16.258l34.699 26.31c5.205 3.947 12.621 3.008 16.665-2.122 17.864-22.658 30.113-35.797 57.303-35.797 20.429 0 45.698 13.148 45.698 32.958 0 14.976-12.363 22.667-32.534 33.976C247.128 238.528 216 254.941 216 296v4c0 6.627 5.373 12 12 12h56c6.627 0 12-5.373 12-12v-1.333c0-28.462 83.186-29.647 83.186-106.667 0-58.002-60.165-102-116.531-102zM256 338c-25.365 0-46 20.635-46 46 0 25.364 20.635 46 46 46s46-20.636 46-46c0-25.365-20.635-46-46-46z"></path></svg>Help Center</a></li><li class="header--dropdown-row js-header-dropdown-collapse-button"><button class="header--dropdown-button">less<svg aria-hidden="true" focusable="false" data-prefix="fas" data-icon="caret-up" class="header--dropdown-button-icon svg-inline--fa fa-caret-up fa-w-10" role="img" xmlns="http://www.w3.org/2000/svg" viewBox="0 0 320 512"><path fill="currentColor" d="M288.662 352H31.338c-17.818 0-26.741-21.543-14.142-34.142l128.662-128.662c7.81-7.81 20.474-7.81 28.284 0l128.662 128.662c12.6 12.599 3.676 34.142-14.142 34.142z"></path></svg></button></li></ul></li></ul></div> <script src="//a.academia-assets.com/assets/webpack_bundles/fast_loswp-bundle-86832e264efa375cdd3fa5979579c95643bf6a5c1b20c95ec7a98005fcb4b9a4.js" defer="defer"></script><script>window.loswp = {}; window.loswp.author = 31600762; window.loswp.bulkDownloadFilterCounts = {}; window.loswp.hasDownloadableAttachment = true; window.loswp.hasViewableAttachments = true; // TODO: just use routes for this window.loswp.loginUrl = "https://www.academia.edu/login?post_login_redirect_url=https%3A%2F%2Fwww.academia.edu%2F12632520%2FGermline_RECQL_mutations_are_associated_with_breast_cancer_susceptibility%3Fauto%3Ddownload"; window.loswp.translateUrl = "https://www.academia.edu/login?post_login_redirect_url=https%3A%2F%2Fwww.academia.edu%2F12632520%2FGermline_RECQL_mutations_are_associated_with_breast_cancer_susceptibility%3Fshow_translation%3Dtrue"; window.loswp.previewableAttachments = [{"id":46037465,"identifier":"Attachment_46037465","shouldShowBulkDownload":false}]; window.loswp.shouldDetectTimezone = true; window.loswp.shouldShowBulkDownload = true; window.loswp.showSignupCaptcha = false window.loswp.willEdgeCache = false; window.loswp.work = {"work":{"id":12632520,"created_at":"2015-05-27T09:37:37.111-07:00","from_world_paper_id":136918916,"updated_at":"2024-11-18T06:41:34.848-08:00","_data":{"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":"2015,,","publication_name":"Nature Genetics","grobid_abstract_attachment_id":"46037465"},"document_type":"paper","pre_hit_view_count_baseline":null,"quality":"high","language":"en","title":"Germline RECQL mutations are associated with breast cancer susceptibility","broadcastable":false,"draft":null,"has_indexable_attachment":true,"indexable":true}}["work"]; window.loswp.workCoauthors = [31600762]; window.loswp.locale = "en"; window.loswp.countryCode = "SG"; window.loswp.cwvAbTestBucket = ""; window.loswp.designVariant = "ds_vanilla"; window.loswp.fullPageMobileSutdModalVariant = "full_page_mobile_sutd_modal"; window.loswp.useOptimizedScribd4genScript = false; window.loswp.appleClientId = 'edu.academia.applesignon';</script><script defer="" src="https://accounts.google.com/gsi/client"></script><div class="ds-loswp-container"><div class="ds-work-card--grid-container"><div class="ds-work-card--container js-loswp-work-card"><div class="ds-work-card--cover"><div class="ds-work-cover--wrapper"><div class="ds-work-cover--container"><button class="ds-work-cover--clickable js-swp-download-button" data-signup-modal="{"location":"swp-splash-paper-cover","attachmentId":46037465,"attachmentType":"pdf"}"><img alt="First page of “Germline RECQL mutations are associated with breast cancer susceptibility”" class="ds-work-cover--cover-thumbnail" src="https://0.academia-photos.com/attachment_thumbnails/46037465/mini_magick20190210-1169-1asm6b1.png?1549843414" /><img alt="PDF Icon" class="ds-work-cover--file-icon" src="//a.academia-assets.com/assets/single_work_splash/adobe.icon-574afd46eb6b03a77a153a647fb47e30546f9215c0ee6a25df597a779717f9ef.svg" /><div class="ds-work-cover--hover-container"><span class="material-symbols-outlined" style="font-size: 20px" translate="no">download</span><p>Download Free PDF</p></div><div class="ds-work-cover--ribbon-container">Download Free PDF</div><div class="ds-work-cover--ribbon-triangle"></div></button></div></div></div><div class="ds-work-card--work-information"><h1 class="ds-work-card--work-title">Germline RECQL mutations are associated with breast cancer susceptibility</h1><div class="ds-work-card--work-authors ds-work-card--detail"><a class="ds-work-card--author js-wsj-grid-card-author ds2-5-body-md ds2-5-body-link" data-author-id="31600762" href="https://independent.academia.edu/NancyHamel"><img alt="Profile image of Nancy Hamel" class="ds-work-card--author-avatar" src="//a.academia-assets.com/images/s65_no_pic.png" />Nancy Hamel</a></div><div class="ds-work-card--detail"><p class="ds-work-card--detail ds2-5-body-sm">2015, Nature Genetics</p><div class="ds-work-card--work-metadata"><div class="ds-work-card--work-metadata__stat"><span class="material-symbols-outlined" style="font-size: 20px" translate="no">visibility</span><p class="ds2-5-body-sm" id="work-metadata-view-count">…</p></div><div class="ds-work-card--work-metadata__stat"><span class="material-symbols-outlined" style="font-size: 20px" translate="no">description</span><p class="ds2-5-body-sm">7 pages</p></div><div class="ds-work-card--work-metadata__stat"><span class="material-symbols-outlined" style="font-size: 20px" translate="no">link</span><p class="ds2-5-body-sm">1 file</p></div></div><script>(async () => { const workId = 12632520; const worksViewsPath = "/v0/works/views?subdomain_param=api&work_ids%5B%5D=12632520"; const getWorkViews = async (workId) => { const response = await fetch(worksViewsPath); if (!response.ok) { throw new Error('Failed to load work views'); } const data = await response.json(); return data.views[workId]; }; // Get the view count for the work - we send this immediately rather than waiting for // the DOM to load, so it can be available as soon as possible (but without holding up // the backend or other resource requests, because it's a bit expensive and not critical). const viewCount = await getWorkViews(workId); const updateViewCount = (viewCount) => { const viewCountNumber = Number(viewCount); if (!viewCountNumber) { throw new Error('Failed to parse view count'); } const commaizedViewCount = viewCountNumber.toLocaleString(); const viewCountBody = document.getElementById('work-metadata-view-count'); if (viewCountBody) { viewCountBody.textContent = `${commaizedViewCount} views`; } else { throw new Error('Failed to find work views element'); } }; // If the DOM is still loading, wait for it to be ready before updating the view count. if (document.readyState === "loading") { document.addEventListener('DOMContentLoaded', () => { updateViewCount(viewCount); }); // Otherwise, just update it immediately. } else { updateViewCount(viewCount); } })();</script></div><div class="ds-work-card--button-container"><button class="ds2-5-button js-swp-download-button" data-signup-modal="{"location":"continue-reading-button--work-card","attachmentId":46037465,"attachmentType":"pdf","workUrl":"https://www.academia.edu/12632520/Germline_RECQL_mutations_are_associated_with_breast_cancer_susceptibility"}">See full PDF</button><button class="ds2-5-button ds2-5-button--secondary js-swp-download-button" data-signup-modal="{"location":"download-pdf-button--work-card","attachmentId":46037465,"attachmentType":"pdf","workUrl":"https://www.academia.edu/12632520/Germline_RECQL_mutations_are_associated_with_breast_cancer_susceptibility"}"><span class="material-symbols-outlined" style="font-size: 20px" translate="no">download</span>Download PDF</button></div></div></div></div><div data-auto_select="false" data-client_id="331998490334-rsn3chp12mbkiqhl6e7lu2q0mlbu0f1b" data-doc_id="46037465" data-landing_url="https://www.academia.edu/12632520/Germline_RECQL_mutations_are_associated_with_breast_cancer_susceptibility" data-login_uri="https://www.academia.edu/registrations/google_one_tap" data-moment_callback="onGoogleOneTapEvent" id="g_id_onload"></div><div class="ds-top-related-works--grid-container"><div class="ds-related-content--container ds-top-related-works--container"><h2 class="ds-related-content--heading">Related papers</h2><div class="ds-related-work--container js-wsj-grid-card" data-collection-position="0" data-entity-id="15435160" data-sort-order="default"><a class="ds-related-work--title js-wsj-grid-card-title ds2-5-body-md ds2-5-body-link" href="https://www.academia.edu/15435160/Variants_in_DNA_double_strand_break_repair_genes_and_breast_cancer_susceptibility">Variants in DNA double-strand break repair genes and breast cancer susceptibility</a><div class="ds-related-work--metadata"><a class="js-wsj-grid-card-author ds2-5-body-sm ds2-5-body-link" data-author-id="34578550" href="https://independent.academia.edu/BettinaKuschel">Bettina Kuschel</a></div><p class="ds-related-work--metadata ds2-5-body-xs">Human Molecular Genetics, 2002</p><div class="ds-related-work--ctas"><button class="ds2-5-text-link ds2-5-text-link--inline js-swp-download-button" data-signup-modal="{"location":"wsj-grid-card-download-pdf-modal","work_title":"Variants in DNA double-strand break repair genes and breast cancer susceptibility","attachmentId":43201992,"attachmentType":"pdf","work_url":"https://www.academia.edu/15435160/Variants_in_DNA_double_strand_break_repair_genes_and_breast_cancer_susceptibility","alternativeTracking":true}"><span class="material-symbols-outlined" style="font-size: 18px" translate="no">download</span><span class="ds2-5-text-link__content">Download free PDF</span></button><a class="ds2-5-text-link ds2-5-text-link--inline js-wsj-grid-card-view-pdf" href="https://www.academia.edu/15435160/Variants_in_DNA_double_strand_break_repair_genes_and_breast_cancer_susceptibility"><span class="ds2-5-text-link__content">View PDF</span><span class="material-symbols-outlined" style="font-size: 18px" translate="no">chevron_right</span></a></div></div><div class="ds-related-work--container js-wsj-grid-card" data-collection-position="1" data-entity-id="26217128" data-sort-order="default"><a class="ds-related-work--title js-wsj-grid-card-title ds2-5-body-md ds2-5-body-link" href="https://www.academia.edu/26217128/Prevalence_of_Germline_Mutations_in_Genes_Engaged_in_DNA_Damage_Repair_by_Homologous_Recombination_in_Patients_with_Triple_Negative_and_Hereditary_Non_Triple_Negative_Breast_Cancers">Prevalence of Germline Mutations in Genes Engaged in DNA Damage Repair by Homologous Recombination in Patients with Triple-Negative and Hereditary Non-Triple-Negative Breast Cancers</a><div class="ds-related-work--metadata"><a class="js-wsj-grid-card-author ds2-5-body-sm ds2-5-body-link" data-author-id="50126016" href="https://independent.academia.edu/AgnieszkaKurlapska">Agnieszka Kurlapska</a></div><p class="ds-related-work--metadata ds2-5-body-xs">PloS one, 2015</p><p class="ds-related-work--abstract ds2-5-body-sm">This study sought to assess the prevalence of common germline mutations in several genes engaged in the repair of DNA double-strand break by homologous recombination in patients with triple-negative breast cancers and hereditary non-triple-negative breast cancers. Tumors deficient in this type of DNA damage repair are known to be especially sensitive to DNA cross-linking agents (e.g., platinum drugs) and to poly(ADP-ribose) polymerase (PARP) inhibitors. Genetic testing was performed for 36 common germline mutations in genes engaged in the repair of DNA by homologous recombination, i.e., BRCA1, BRCA2, CHEK2, NBN, ATM, PALB2, BARD1, and RAD51D, in 202 consecutive patients with triple-negative breast cancers and hereditary non-triple-negative breast cancers. Thirty five (22.2%) of 158 patients in the triple-negative group carried mutations in genes involved in DNA repair by homologous recombination, while 10 (22.7%) of the 44 patients in the hereditary non-triple-negative group carried...</p><div class="ds-related-work--ctas"><button class="ds2-5-text-link ds2-5-text-link--inline js-swp-download-button" data-signup-modal="{"location":"wsj-grid-card-download-pdf-modal","work_title":"Prevalence of Germline Mutations in Genes Engaged in DNA Damage Repair by Homologous Recombination in Patients with Triple-Negative and Hereditary Non-Triple-Negative Breast Cancers","attachmentId":46536441,"attachmentType":"pdf","work_url":"https://www.academia.edu/26217128/Prevalence_of_Germline_Mutations_in_Genes_Engaged_in_DNA_Damage_Repair_by_Homologous_Recombination_in_Patients_with_Triple_Negative_and_Hereditary_Non_Triple_Negative_Breast_Cancers","alternativeTracking":true}"><span class="material-symbols-outlined" style="font-size: 18px" translate="no">download</span><span class="ds2-5-text-link__content">Download free PDF</span></button><a class="ds2-5-text-link ds2-5-text-link--inline js-wsj-grid-card-view-pdf" href="https://www.academia.edu/26217128/Prevalence_of_Germline_Mutations_in_Genes_Engaged_in_DNA_Damage_Repair_by_Homologous_Recombination_in_Patients_with_Triple_Negative_and_Hereditary_Non_Triple_Negative_Breast_Cancers"><span class="ds2-5-text-link__content">View PDF</span><span class="material-symbols-outlined" style="font-size: 18px" translate="no">chevron_right</span></a></div></div><div class="ds-related-work--container js-wsj-grid-card" data-collection-position="2" data-entity-id="70238043" data-sort-order="default"><a class="ds-related-work--title js-wsj-grid-card-title ds2-5-body-md ds2-5-body-link" href="https://www.academia.edu/70238043/Prevalence_of_RECQL_germline_variants_in_Pakistani_early_onset_and_familial_breast_cancer_patients">Prevalence of RECQL germline variants in Pakistani early-onset and familial breast cancer patients</a><div class="ds-related-work--metadata"><a class="js-wsj-grid-card-author ds2-5-body-sm ds2-5-body-link" data-author-id="51295730" href="https://independent.academia.edu/nailamalkani">naila malkani</a></div><p class="ds-related-work--metadata ds2-5-body-xs">Hereditary Cancer in Clinical Practice, 2020</p><p class="ds-related-work--abstract ds2-5-body-sm">Background The RecQ Like Helicase ( RECQL ) gene has previously been shown to predispose to breast cancer mainly in European populations, in particular to estrogen receptor (ER) and/or progesterone receptor (PR) positive tumor. Here, we investigated the contribution of pathogenic RECQL germline variants to hereditary breast cancer in early-onset and familial breast cancer patients from Pakistan. Methods Comprehensive RECQL variant analysis was performed in 302 BRCA1 and BRCA2 negative patients with ER and/or PR positive breast tumors using denaturing high-performance liquid chromatography followed by DNA sequencing. Novel variants were classified using Sherloc guidelines. Results One novel pathogenic protein-truncating variant (p.W75*) was identified in a 37-year-old familial breast cancer patient. The pathogenic variant frequencies were 0.3% (1/302) in early-onset and familial breast cancer patients and 0.8% (1/133) in familial patients. Further, three novel variants of unknown sig...</p><div class="ds-related-work--ctas"><button class="ds2-5-text-link ds2-5-text-link--inline js-swp-download-button" data-signup-modal="{"location":"wsj-grid-card-download-pdf-modal","work_title":"Prevalence of RECQL germline variants in Pakistani early-onset and familial breast cancer patients","attachmentId":80068512,"attachmentType":"pdf","work_url":"https://www.academia.edu/70238043/Prevalence_of_RECQL_germline_variants_in_Pakistani_early_onset_and_familial_breast_cancer_patients","alternativeTracking":true}"><span class="material-symbols-outlined" style="font-size: 18px" translate="no">download</span><span class="ds2-5-text-link__content">Download free PDF</span></button><a class="ds2-5-text-link ds2-5-text-link--inline js-wsj-grid-card-view-pdf" href="https://www.academia.edu/70238043/Prevalence_of_RECQL_germline_variants_in_Pakistani_early_onset_and_familial_breast_cancer_patients"><span class="ds2-5-text-link__content">View PDF</span><span class="material-symbols-outlined" style="font-size: 18px" translate="no">chevron_right</span></a></div></div><div class="ds-related-work--container js-wsj-grid-card" data-collection-position="3" data-entity-id="73106366" data-sort-order="default"><a class="ds-related-work--title js-wsj-grid-card-title ds2-5-body-md ds2-5-body-link" href="https://www.academia.edu/73106366/DNA_double_strand_break_repair_genotype_and_phenotype_and_breast_cancer_risk_within_sisters_from_the_New_York_site_of_the_Breast_Cancer_Family_Registry_BCFR_">DNA double-strand break repair genotype and phenotype and breast cancer risk within sisters from the New York site of the Breast Cancer Family Registry (BCFR)</a><div class="ds-related-work--metadata"><a class="js-wsj-grid-card-author ds2-5-body-sm ds2-5-body-link" data-author-id="39070245" href="https://independent.academia.edu/ReginaSantella">Regina Santella</a></div><p class="ds-related-work--metadata ds2-5-body-xs">Cancer Causes & Control, 2013</p><div class="ds-related-work--ctas"><button class="ds2-5-text-link ds2-5-text-link--inline js-swp-download-button" data-signup-modal="{"location":"wsj-grid-card-download-pdf-modal","work_title":"DNA double-strand break repair genotype and phenotype and breast cancer risk within sisters from the New York site of the Breast Cancer Family Registry (BCFR)","attachmentId":81758145,"attachmentType":"pdf","work_url":"https://www.academia.edu/73106366/DNA_double_strand_break_repair_genotype_and_phenotype_and_breast_cancer_risk_within_sisters_from_the_New_York_site_of_the_Breast_Cancer_Family_Registry_BCFR_","alternativeTracking":true}"><span class="material-symbols-outlined" style="font-size: 18px" translate="no">download</span><span class="ds2-5-text-link__content">Download free PDF</span></button><a class="ds2-5-text-link ds2-5-text-link--inline js-wsj-grid-card-view-pdf" href="https://www.academia.edu/73106366/DNA_double_strand_break_repair_genotype_and_phenotype_and_breast_cancer_risk_within_sisters_from_the_New_York_site_of_the_Breast_Cancer_Family_Registry_BCFR_"><span class="ds2-5-text-link__content">View PDF</span><span class="material-symbols-outlined" style="font-size: 18px" translate="no">chevron_right</span></a></div></div><div class="ds-related-work--container js-wsj-grid-card" data-collection-position="4" data-entity-id="53789918" data-sort-order="default"><a class="ds-related-work--title js-wsj-grid-card-title ds2-5-body-md ds2-5-body-link" href="https://www.academia.edu/53789918/Clinicopathological_and_functional_significance_of_RECQL1_helicase_in_sporadic_breast_cancers">Clinicopathological and functional significance of RECQL1 helicase in sporadic breast cancers</a><div class="ds-related-work--metadata"><a class="js-wsj-grid-card-author ds2-5-body-sm ds2-5-body-link" data-author-id="1262780" href="https://uclan.academia.edu/MohammedAAleskandarany">Mohammed A. Aleskandarany</a></div><p class="ds-related-work--metadata ds2-5-body-xs">Molecular cancer therapeutics, 2016</p><p class="ds-related-work--abstract ds2-5-body-sm">RECQL1, a key member of the RecQ family of DNA helicases, is required for DNA replication and DNA repair. Two recent studies have shown that germ-line RECQL1 mutations are associated with increased breast cancer susceptibility. Whether altered RECQL1 expression has clinicopathological significance in sporadic breast cancers is unknown. We evaluated RECQL1 at the transcriptomic level [METABRIC cohort, n=1977] and at the protein level [cohort 1, n=897; cohort 2, n= 252; cohort 3 (BRCA-germline deficient), n=74]. In RECQL1-depleted breast cancer cells we investigated anthracycline sensitivity. High RECQL1 mRNA was associated with intClust.3 (p=0.026) which is characterised by low genomic instability. On the other hand, low RECQL1 mRNA was linked to intClust.8 (luminal A ER+ sub-group) (p=0.0455) and intClust.9 (luminal B ER+ sub-group) (p=0.0346) molecular phenotypes. Low RECQL1 expression was associated with shorter breast cancer specific survival (p=0.001). At the protein level, low ...</p><div class="ds-related-work--ctas"><button class="ds2-5-text-link ds2-5-text-link--inline js-swp-download-button" data-signup-modal="{"location":"wsj-grid-card-download-pdf-modal","work_title":"Clinicopathological and functional significance of RECQL1 helicase in sporadic breast cancers","attachmentId":70466623,"attachmentType":"pdf","work_url":"https://www.academia.edu/53789918/Clinicopathological_and_functional_significance_of_RECQL1_helicase_in_sporadic_breast_cancers","alternativeTracking":true}"><span class="material-symbols-outlined" style="font-size: 18px" translate="no">download</span><span class="ds2-5-text-link__content">Download free PDF</span></button><a class="ds2-5-text-link ds2-5-text-link--inline js-wsj-grid-card-view-pdf" href="https://www.academia.edu/53789918/Clinicopathological_and_functional_significance_of_RECQL1_helicase_in_sporadic_breast_cancers"><span class="ds2-5-text-link__content">View PDF</span><span class="material-symbols-outlined" style="font-size: 18px" translate="no">chevron_right</span></a></div></div><div class="ds-related-work--container js-wsj-grid-card" data-collection-position="5" data-entity-id="15537249" data-sort-order="default"><a class="ds-related-work--title js-wsj-grid-card-title ds2-5-body-md ds2-5-body-link" href="https://www.academia.edu/15537249/Breast_cancer_risk_and_common_single_nucleotide_polymorphisms_in_homologous_recombination_DNA_repair_pathway_genes_XRCC2_XRCC3_NBS1_and_RAD51">Breast cancer risk and common single nucleotide polymorphisms in homologous recombination DNA repair pathway genes XRCC2, XRCC3, NBS1 and RAD51</a><div class="ds-related-work--metadata"><a class="js-wsj-grid-card-author ds2-5-body-sm ds2-5-body-link" data-author-id="34692562" href="https://independent.academia.edu/SusanaSilva45">Susana Nunes da Silva</a></div><p class="ds-related-work--metadata ds2-5-body-xs">Cancer Epidemiology, 2010</p><div class="ds-related-work--ctas"><button class="ds2-5-text-link ds2-5-text-link--inline js-swp-download-button" data-signup-modal="{"location":"wsj-grid-card-download-pdf-modal","work_title":"Breast cancer risk and common single nucleotide polymorphisms in homologous recombination DNA repair pathway genes XRCC2, XRCC3, NBS1 and RAD51","attachmentId":43110936,"attachmentType":"pdf","work_url":"https://www.academia.edu/15537249/Breast_cancer_risk_and_common_single_nucleotide_polymorphisms_in_homologous_recombination_DNA_repair_pathway_genes_XRCC2_XRCC3_NBS1_and_RAD51","alternativeTracking":true}"><span class="material-symbols-outlined" style="font-size: 18px" translate="no">download</span><span class="ds2-5-text-link__content">Download free PDF</span></button><a class="ds2-5-text-link ds2-5-text-link--inline js-wsj-grid-card-view-pdf" href="https://www.academia.edu/15537249/Breast_cancer_risk_and_common_single_nucleotide_polymorphisms_in_homologous_recombination_DNA_repair_pathway_genes_XRCC2_XRCC3_NBS1_and_RAD51"><span class="ds2-5-text-link__content">View PDF</span><span class="material-symbols-outlined" style="font-size: 18px" translate="no">chevron_right</span></a></div></div><div class="ds-related-work--container js-wsj-grid-card" data-collection-position="6" data-entity-id="20959058" data-sort-order="default"><a class="ds-related-work--title js-wsj-grid-card-title ds2-5-body-md ds2-5-body-link" href="https://www.academia.edu/20959058/High_prevalence_and_breast_cancer_predisposing_role_of_the_BLM_c_1642_C_T_Q548X_mutation_in_Russia">High prevalence and breast cancer predisposing role of the BLM c.1642 C>T (Q548X) mutation in Russia</a><div class="ds-related-work--metadata"><a class="js-wsj-grid-card-author ds2-5-body-sm ds2-5-body-link" data-author-id="42215018" href="https://cambridge.academia.edu/AlexeyLarionov">Alexey Larionov</a></div><p class="ds-related-work--metadata ds2-5-body-xs">International Journal of Cancer, 2012</p><div class="ds-related-work--ctas"><button class="ds2-5-text-link ds2-5-text-link--inline js-swp-download-button" data-signup-modal="{"location":"wsj-grid-card-download-pdf-modal","work_title":"High prevalence and breast cancer predisposing role of the BLM c.1642 C\u003eT (Q548X) mutation in Russia","attachmentId":42590609,"attachmentType":"pdf","work_url":"https://www.academia.edu/20959058/High_prevalence_and_breast_cancer_predisposing_role_of_the_BLM_c_1642_C_T_Q548X_mutation_in_Russia","alternativeTracking":true}"><span class="material-symbols-outlined" style="font-size: 18px" translate="no">download</span><span class="ds2-5-text-link__content">Download free PDF</span></button><a class="ds2-5-text-link ds2-5-text-link--inline js-wsj-grid-card-view-pdf" href="https://www.academia.edu/20959058/High_prevalence_and_breast_cancer_predisposing_role_of_the_BLM_c_1642_C_T_Q548X_mutation_in_Russia"><span class="ds2-5-text-link__content">View PDF</span><span class="material-symbols-outlined" style="font-size: 18px" translate="no">chevron_right</span></a></div></div><div class="ds-related-work--container js-wsj-grid-card" data-collection-position="7" data-entity-id="95943665" data-sort-order="default"><a class="ds-related-work--title js-wsj-grid-card-title ds2-5-body-md ds2-5-body-link" href="https://www.academia.edu/95943665/Genomic_hallmarks_of_homologous_recombination_deficiency_in_invasive_breast_carcinomas">Genomic hallmarks of homologous recombination deficiency in invasive breast carcinomas</a><div class="ds-related-work--metadata"><a class="js-wsj-grid-card-author ds2-5-body-sm ds2-5-body-link" data-author-id="32696015" href="https://independent.academia.edu/ThierryDubois2">Thierry Dubois</a></div><p class="ds-related-work--metadata ds2-5-body-xs">International Journal of Cancer, 2015</p><div class="ds-related-work--ctas"><button class="ds2-5-text-link ds2-5-text-link--inline js-swp-download-button" data-signup-modal="{"location":"wsj-grid-card-download-pdf-modal","work_title":"Genomic hallmarks of homologous recombination deficiency in invasive breast carcinomas","attachmentId":97981201,"attachmentType":"pdf","work_url":"https://www.academia.edu/95943665/Genomic_hallmarks_of_homologous_recombination_deficiency_in_invasive_breast_carcinomas","alternativeTracking":true}"><span class="material-symbols-outlined" style="font-size: 18px" translate="no">download</span><span class="ds2-5-text-link__content">Download free PDF</span></button><a class="ds2-5-text-link ds2-5-text-link--inline js-wsj-grid-card-view-pdf" href="https://www.academia.edu/95943665/Genomic_hallmarks_of_homologous_recombination_deficiency_in_invasive_breast_carcinomas"><span class="ds2-5-text-link__content">View PDF</span><span class="material-symbols-outlined" style="font-size: 18px" translate="no">chevron_right</span></a></div></div><div class="ds-related-work--container js-wsj-grid-card" data-collection-position="8" data-entity-id="122606197" data-sort-order="default"><a class="ds-related-work--title js-wsj-grid-card-title ds2-5-body-md ds2-5-body-link" href="https://www.academia.edu/122606197/Clinical_relevance_of_double_heterozygosity_revealed_by_next_generation_sequencing_of_homologous_recombination_repair_pathway_genes_in_South_African_breast_cancer_patients">Clinical relevance of double heterozygosity revealed by next-generation sequencing of homologous recombination repair pathway genes in South African breast cancer patients</a><div class="ds-related-work--metadata"><a class="js-wsj-grid-card-author ds2-5-body-sm ds2-5-body-link" data-author-id="191220145" href="https://independent.academia.edu/NerinaChrisnaVanDerMerwe">Nerina Chrisna Van Der Merwe</a></div><p class="ds-related-work--metadata ds2-5-body-xs">Breast cancer research and treatment, 2024</p><div class="ds-related-work--ctas"><button class="ds2-5-text-link ds2-5-text-link--inline js-swp-download-button" data-signup-modal="{"location":"wsj-grid-card-download-pdf-modal","work_title":"Clinical relevance of double heterozygosity revealed by next-generation sequencing of homologous recombination repair pathway genes in South African breast cancer patients","attachmentId":117240268,"attachmentType":"pdf","work_url":"https://www.academia.edu/122606197/Clinical_relevance_of_double_heterozygosity_revealed_by_next_generation_sequencing_of_homologous_recombination_repair_pathway_genes_in_South_African_breast_cancer_patients","alternativeTracking":true}"><span class="material-symbols-outlined" style="font-size: 18px" translate="no">download</span><span class="ds2-5-text-link__content">Download free PDF</span></button><a class="ds2-5-text-link ds2-5-text-link--inline js-wsj-grid-card-view-pdf" href="https://www.academia.edu/122606197/Clinical_relevance_of_double_heterozygosity_revealed_by_next_generation_sequencing_of_homologous_recombination_repair_pathway_genes_in_South_African_breast_cancer_patients"><span class="ds2-5-text-link__content">View PDF</span><span class="material-symbols-outlined" style="font-size: 18px" translate="no">chevron_right</span></a></div></div><div class="ds-related-work--container js-wsj-grid-card" data-collection-position="9" data-entity-id="16695516" data-sort-order="default"><a class="ds-related-work--title js-wsj-grid-card-title ds2-5-body-md ds2-5-body-link" href="https://www.academia.edu/16695516/Polymorphism_of_the_homologous_recombination_repair_genes_RAD51_and_XRCC3_in_breast_cancer">Polymorphism of the homologous recombination repair genes RAD51 and XRCC3 in breast cancer</a><div class="ds-related-work--metadata"><a class="js-wsj-grid-card-author ds2-5-body-sm ds2-5-body-link" data-author-id="36076305" href="https://independent.academia.edu/JanuszBlasiak">Janusz Blasiak</a></div><p class="ds-related-work--metadata ds2-5-body-xs">Experimental and Molecular Pathology, 2009</p><p class="ds-related-work--abstract ds2-5-body-sm">The RAD51 protein and its paralog, XRCC3, play an important role in the repair of DNA double-strand breaks (DSBs) by homologous recombination. Since DSBs may contribute to the pathogenesis of breast cancer and variability in DNA repair genes may be linked with some cancers, we performed a case-control study (135 cases and 175 controls) to check the association between the genotypes of the Thr241Met polymorphism of the XRCC3 gene and the 135G&amp;amp;amp;amp;amp;amp;amp;amp;amp;gt;C polymorphism of the RAD51 gene and breast cancer occurrence and progression. Genotypes were determined in peripheral blood lymphocytes by RFLP-PCR. We did not find any association between either polymorphism singly and breast cancer occurrence. Both polymorphisms were not related to tumor size, estrogen and progesterone receptors status, cancer type and grade. However, the Thr241Met genotype of the XRCC3 polymorphism slightly increased the risk of local metastasis in breast cancer patients (OR 2.56, 95% CI 1.27-5.17). The combined Thr241Met/135G&amp;amp;amp;amp;amp;amp;amp;amp;amp;gt;C genotype decreased the risk of breast cancer occurrence (OR 0.22, 95% CI 0.08-0.59). Our results suggest that the variability of the DNA homologous recombination repair genes RAD51 and XRCC3 may play a role in breast cancer occurrence and progression, but this role may be underlined by a mutual interaction between these genes.</p><div class="ds-related-work--ctas"><button class="ds2-5-text-link ds2-5-text-link--inline js-swp-download-button" data-signup-modal="{"location":"wsj-grid-card-download-pdf-modal","work_title":"Polymorphism of the homologous recombination repair genes RAD51 and XRCC3 in breast cancer","attachmentId":42414711,"attachmentType":"pdf","work_url":"https://www.academia.edu/16695516/Polymorphism_of_the_homologous_recombination_repair_genes_RAD51_and_XRCC3_in_breast_cancer","alternativeTracking":true}"><span class="material-symbols-outlined" style="font-size: 18px" translate="no">download</span><span class="ds2-5-text-link__content">Download free PDF</span></button><a class="ds2-5-text-link ds2-5-text-link--inline js-wsj-grid-card-view-pdf" href="https://www.academia.edu/16695516/Polymorphism_of_the_homologous_recombination_repair_genes_RAD51_and_XRCC3_in_breast_cancer"><span class="ds2-5-text-link__content">View PDF</span><span class="material-symbols-outlined" style="font-size: 18px" translate="no">chevron_right</span></a></div></div></div></div><div class="ds-sticky-ctas--wrapper js-loswp-sticky-ctas hidden"><div class="ds-sticky-ctas--grid-container"><div class="ds-sticky-ctas--container"><button class="ds2-5-button js-swp-download-button" data-signup-modal="{"location":"continue-reading-button--sticky-ctas","attachmentId":46037465,"attachmentType":"pdf","workUrl":null}">See full PDF</button><button class="ds2-5-button ds2-5-button--secondary js-swp-download-button" data-signup-modal="{"location":"download-pdf-button--sticky-ctas","attachmentId":46037465,"attachmentType":"pdf","workUrl":null}"><span class="material-symbols-outlined" style="font-size: 20px" translate="no">download</span>Download PDF</button></div></div></div><div class="ds-below-fold--grid-container"><div class="ds-work--container js-loswp-embedded-document"><div class="attachment_preview" data-attachment="Attachment_46037465" style="display: none"><div class="js-scribd-document-container"><div class="scribd--document-loading js-scribd-document-loader" style="display: block;"><img alt="Loading..." src="//a.academia-assets.com/images/loaders/paper-load.gif" /><p>Loading Preview</p></div></div><div style="text-align: center;"><div class="scribd--no-preview-alert js-preview-unavailable"><p>Sorry, preview is currently unavailable. You can download the paper by clicking the button above.</p></div></div></div></div><div class="ds-sidebar--container js-work-sidebar"><div class="ds-related-content--container"><h2 class="ds-related-content--heading">Related papers</h2><div class="ds-related-work--container js-related-work-sidebar-card" data-collection-position="0" data-entity-id="3085320" data-sort-order="default"><a class="ds-related-work--title js-related-work-grid-card-title ds2-5-body-md ds2-5-body-link" href="https://www.academia.edu/3085320/A_multistage_genome_wide_association_study_in_breast_cancer_identifies_two_new_risk_alleles_at_1p11_2_and_14q24_1_RAD51L1_">A multistage genome-wide association study in breast cancer identifies two new risk alleles at 1p11.2 and 14q24.1 (RAD51L1)</a><div class="ds-related-work--metadata"><a class="js-related-work-grid-card-author ds2-5-body-sm ds2-5-body-link" data-author-id="3043637" href="https://wustl.academia.edu/GrahamColditz">Graham Colditz</a></div><p class="ds-related-work--metadata ds2-5-body-xs">Nature genetics, 2009</p><div class="ds-related-work--ctas"><button class="ds2-5-text-link ds2-5-text-link--inline js-swp-download-button" data-signup-modal="{"location":"wsj-grid-card-download-pdf-modal","work_title":"A multistage genome-wide association study in breast cancer identifies two new risk alleles at 1p11.2 and 14q24.1 (RAD51L1)","attachmentId":50475591,"attachmentType":"pdf","work_url":"https://www.academia.edu/3085320/A_multistage_genome_wide_association_study_in_breast_cancer_identifies_two_new_risk_alleles_at_1p11_2_and_14q24_1_RAD51L1_","alternativeTracking":true}"><span class="material-symbols-outlined" style="font-size: 18px" translate="no">download</span><span class="ds2-5-text-link__content">Download free PDF</span></button><a class="ds2-5-text-link ds2-5-text-link--inline js-related-work-grid-card-view-pdf" href="https://www.academia.edu/3085320/A_multistage_genome_wide_association_study_in_breast_cancer_identifies_two_new_risk_alleles_at_1p11_2_and_14q24_1_RAD51L1_"><span class="ds2-5-text-link__content">View PDF</span><span class="material-symbols-outlined" style="font-size: 18px" translate="no">chevron_right</span></a></div></div><div class="ds-related-work--container js-related-work-sidebar-card" data-collection-position="1" data-entity-id="48442163" data-sort-order="default"><a class="ds-related-work--title js-related-work-grid-card-title ds2-5-body-md ds2-5-body-link" href="https://www.academia.edu/48442163/RECQL4_helicase_has_oncogenic_potential_in_sporadic_breast_cancers">RECQL4 helicase has oncogenic potential in sporadic breast cancers</a><div class="ds-related-work--metadata"><a class="js-related-work-grid-card-author ds2-5-body-sm ds2-5-body-link" data-author-id="121367223" href="https://independent.academia.edu/ABalajee">Adayabalam Balajee</a></div><p class="ds-related-work--metadata ds2-5-body-xs">The Journal of pathology, 2015</p><div class="ds-related-work--ctas"><button class="ds2-5-text-link ds2-5-text-link--inline js-swp-download-button" data-signup-modal="{"location":"wsj-grid-card-download-pdf-modal","work_title":"RECQL4 helicase has oncogenic potential in sporadic breast cancers","attachmentId":67051534,"attachmentType":"pdf","work_url":"https://www.academia.edu/48442163/RECQL4_helicase_has_oncogenic_potential_in_sporadic_breast_cancers","alternativeTracking":true}"><span class="material-symbols-outlined" style="font-size: 18px" translate="no">download</span><span class="ds2-5-text-link__content">Download free PDF</span></button><a class="ds2-5-text-link ds2-5-text-link--inline js-related-work-grid-card-view-pdf" href="https://www.academia.edu/48442163/RECQL4_helicase_has_oncogenic_potential_in_sporadic_breast_cancers"><span class="ds2-5-text-link__content">View PDF</span><span class="material-symbols-outlined" style="font-size: 18px" translate="no">chevron_right</span></a></div></div><div class="ds-related-work--container js-related-work-sidebar-card" data-collection-position="2" data-entity-id="104304952" data-sort-order="default"><a class="ds-related-work--title js-related-work-grid-card-title ds2-5-body-md ds2-5-body-link" href="https://www.academia.edu/104304952/Genetic_variation_in_DNA_repair_pathway_genes_and_premenopausal_breast_cancer_risk">Genetic variation in DNA repair pathway genes and premenopausal breast cancer risk</a><div class="ds-related-work--metadata"><a class="js-related-work-grid-card-author ds2-5-body-sm ds2-5-body-link" data-author-id="171777662" href="https://hsph-harvard.academia.edu/DavidHunter">David Hunter</a></div><p class="ds-related-work--metadata ds2-5-body-xs">Breast Cancer Research and Treatment, 2008</p><div class="ds-related-work--ctas"><button class="ds2-5-text-link ds2-5-text-link--inline js-swp-download-button" data-signup-modal="{"location":"wsj-grid-card-download-pdf-modal","work_title":"Genetic variation in DNA repair pathway genes and premenopausal breast cancer risk","attachmentId":104070914,"attachmentType":"pdf","work_url":"https://www.academia.edu/104304952/Genetic_variation_in_DNA_repair_pathway_genes_and_premenopausal_breast_cancer_risk","alternativeTracking":true}"><span class="material-symbols-outlined" style="font-size: 18px" translate="no">download</span><span class="ds2-5-text-link__content">Download free PDF</span></button><a class="ds2-5-text-link ds2-5-text-link--inline js-related-work-grid-card-view-pdf" href="https://www.academia.edu/104304952/Genetic_variation_in_DNA_repair_pathway_genes_and_premenopausal_breast_cancer_risk"><span class="ds2-5-text-link__content">View PDF</span><span class="material-symbols-outlined" style="font-size: 18px" translate="no">chevron_right</span></a></div></div><div class="ds-related-work--container js-related-work-sidebar-card" data-collection-position="3" data-entity-id="15380039" data-sort-order="default"><a class="ds-related-work--title js-related-work-grid-card-title ds2-5-body-md ds2-5-body-link" href="https://www.academia.edu/15380039/Germline_mutations_in_breast_and_ovarian_cancer_pedigrees_establish_RAD51C_as_a_human_cancer_susceptibility_gene">Germline mutations in breast and ovarian cancer pedigrees establish RAD51C as a human cancer susceptibility gene</a><div class="ds-related-work--metadata"><a class="js-related-work-grid-card-author ds2-5-body-sm ds2-5-body-link" data-author-id="34529839" href="https://independent.academia.edu/MarionKiechle">Marion Kiechle</a></div><p class="ds-related-work--metadata ds2-5-body-xs">Nature Genetics, 2010</p><div class="ds-related-work--ctas"><button class="ds2-5-text-link ds2-5-text-link--inline js-swp-download-button" data-signup-modal="{"location":"wsj-grid-card-download-pdf-modal","work_title":"Germline mutations in breast and ovarian cancer pedigrees establish RAD51C as a human cancer susceptibility gene","attachmentId":43271895,"attachmentType":"pdf","work_url":"https://www.academia.edu/15380039/Germline_mutations_in_breast_and_ovarian_cancer_pedigrees_establish_RAD51C_as_a_human_cancer_susceptibility_gene","alternativeTracking":true}"><span class="material-symbols-outlined" style="font-size: 18px" translate="no">download</span><span class="ds2-5-text-link__content">Download free PDF</span></button><a class="ds2-5-text-link ds2-5-text-link--inline js-related-work-grid-card-view-pdf" href="https://www.academia.edu/15380039/Germline_mutations_in_breast_and_ovarian_cancer_pedigrees_establish_RAD51C_as_a_human_cancer_susceptibility_gene"><span class="ds2-5-text-link__content">View PDF</span><span class="material-symbols-outlined" style="font-size: 18px" translate="no">chevron_right</span></a></div></div><div class="ds-related-work--container js-related-work-sidebar-card" data-collection-position="4" data-entity-id="118744195" data-sort-order="default"><a class="ds-related-work--title js-related-work-grid-card-title ds2-5-body-md ds2-5-body-link" href="https://www.academia.edu/118744195/FANCM_and_RECQL_genetic_variants_and_breast_cancer_susceptibility_relevance_to_South_Poland_and_West_Ukraine">FANCM and RECQL genetic variants and breast cancer susceptibility: relevance to South Poland and West Ukraine</a><div class="ds-related-work--metadata"><a class="js-related-work-grid-card-author ds2-5-body-sm ds2-5-body-link" data-author-id="305182994" href="https://independent.academia.edu/SlezakRyszard">Ryszard Slezak</a></div><p class="ds-related-work--metadata ds2-5-body-xs">BMC medical genetics, 2018</p><div class="ds-related-work--ctas"><button class="ds2-5-text-link ds2-5-text-link--inline js-swp-download-button" data-signup-modal="{"location":"wsj-grid-card-download-pdf-modal","work_title":"FANCM and RECQL genetic variants and breast cancer susceptibility: relevance to South Poland and West Ukraine","attachmentId":114298864,"attachmentType":"pdf","work_url":"https://www.academia.edu/118744195/FANCM_and_RECQL_genetic_variants_and_breast_cancer_susceptibility_relevance_to_South_Poland_and_West_Ukraine","alternativeTracking":true}"><span class="material-symbols-outlined" style="font-size: 18px" translate="no">download</span><span class="ds2-5-text-link__content">Download free PDF</span></button><a class="ds2-5-text-link ds2-5-text-link--inline js-related-work-grid-card-view-pdf" href="https://www.academia.edu/118744195/FANCM_and_RECQL_genetic_variants_and_breast_cancer_susceptibility_relevance_to_South_Poland_and_West_Ukraine"><span class="ds2-5-text-link__content">View PDF</span><span class="material-symbols-outlined" style="font-size: 18px" translate="no">chevron_right</span></a></div></div><div class="ds-related-work--container js-related-work-sidebar-card" data-collection-position="5" data-entity-id="24951947" data-sort-order="default"><a class="ds-related-work--title js-related-work-grid-card-title ds2-5-body-md ds2-5-body-link" href="https://www.academia.edu/24951947/Polygenic_model_of_DNA_repair_genetic_polymorphisms_in_human_breast_cancer_risk">Polygenic model of DNA repair genetic polymorphisms in human breast cancer risk</a><div class="ds-related-work--metadata"><a class="js-related-work-grid-card-author ds2-5-body-sm ds2-5-body-link" data-author-id="48428699" href="https://independent.academia.edu/RitaFreimanis">Rita Freimanis</a><span>, </span><a class="js-related-work-grid-card-author ds2-5-body-sm ds2-5-body-link" data-author-id="38844697" href="https://wfubmc.academia.edu/EdwardLevine">Edward Levine</a></div><p class="ds-related-work--metadata ds2-5-body-xs">Carcinogenesis, 2008</p><div class="ds-related-work--ctas"><button class="ds2-5-text-link ds2-5-text-link--inline js-swp-download-button" data-signup-modal="{"location":"wsj-grid-card-download-pdf-modal","work_title":"Polygenic model of DNA repair genetic polymorphisms in human breast cancer risk","attachmentId":45282944,"attachmentType":"pdf","work_url":"https://www.academia.edu/24951947/Polygenic_model_of_DNA_repair_genetic_polymorphisms_in_human_breast_cancer_risk","alternativeTracking":true}"><span class="material-symbols-outlined" style="font-size: 18px" translate="no">download</span><span class="ds2-5-text-link__content">Download free PDF</span></button><a class="ds2-5-text-link ds2-5-text-link--inline js-related-work-grid-card-view-pdf" href="https://www.academia.edu/24951947/Polygenic_model_of_DNA_repair_genetic_polymorphisms_in_human_breast_cancer_risk"><span class="ds2-5-text-link__content">View PDF</span><span class="material-symbols-outlined" style="font-size: 18px" translate="no">chevron_right</span></a></div></div><div class="ds-related-work--container js-related-work-sidebar-card" data-collection-position="6" data-entity-id="85177754" data-sort-order="default"><a class="ds-related-work--title js-related-work-grid-card-title ds2-5-body-md ds2-5-body-link" href="https://www.academia.edu/85177754/DNA_repair_genetic_polymorphisms_and_breast_cancer_risk">DNA-repair genetic polymorphisms and breast cancer risk</a><div class="ds-related-work--metadata"><a class="js-related-work-grid-card-author ds2-5-body-sm ds2-5-body-link" data-author-id="30872539" href="https://independent.academia.edu/JenniferHu4">Jennifer Hu</a></div><p class="ds-related-work--metadata ds2-5-body-xs">Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology, 2003</p><div class="ds-related-work--ctas"><button class="ds2-5-text-link ds2-5-text-link--inline js-swp-download-button" data-signup-modal="{"location":"wsj-grid-card-download-pdf-modal","work_title":"DNA-repair genetic polymorphisms and breast cancer risk","attachmentId":89957294,"attachmentType":"pdf","work_url":"https://www.academia.edu/85177754/DNA_repair_genetic_polymorphisms_and_breast_cancer_risk","alternativeTracking":true}"><span class="material-symbols-outlined" style="font-size: 18px" translate="no">download</span><span class="ds2-5-text-link__content">Download free PDF</span></button><a class="ds2-5-text-link ds2-5-text-link--inline js-related-work-grid-card-view-pdf" href="https://www.academia.edu/85177754/DNA_repair_genetic_polymorphisms_and_breast_cancer_risk"><span class="ds2-5-text-link__content">View PDF</span><span class="material-symbols-outlined" style="font-size: 18px" translate="no">chevron_right</span></a></div></div><div class="ds-related-work--container js-related-work-sidebar-card" data-collection-position="7" data-entity-id="16695555" data-sort-order="default"><a class="ds-related-work--title js-related-work-grid-card-title ds2-5-body-md ds2-5-body-link" href="https://www.academia.edu/16695555/Efficacy_of_DNA_double_strand_breaks_repair_in_breast_cancer_is_decreased_in_carriers_of_the_variant_allele_of_the_UBC9_gene_c_73G_A_polymorphism">Efficacy of DNA double-strand breaks repair in breast cancer is decreased in carriers of the variant allele of the UBC9 gene c.73G>A polymorphism</a><div class="ds-related-work--metadata"><a class="js-related-work-grid-card-author ds2-5-body-sm ds2-5-body-link" data-author-id="36076305" href="https://independent.academia.edu/JanuszBlasiak">Janusz Blasiak</a></div><p class="ds-related-work--metadata ds2-5-body-xs">Mutation Research/Fundamental and Molecular Mechanisms of Mutagenesis, 2010</p><div class="ds-related-work--ctas"><button class="ds2-5-text-link ds2-5-text-link--inline js-swp-download-button" data-signup-modal="{"location":"wsj-grid-card-download-pdf-modal","work_title":"Efficacy of DNA double-strand breaks repair in breast cancer is decreased in carriers of the variant allele of the UBC9 gene c.73G\u003eA polymorphism","attachmentId":39124423,"attachmentType":"pdf","work_url":"https://www.academia.edu/16695555/Efficacy_of_DNA_double_strand_breaks_repair_in_breast_cancer_is_decreased_in_carriers_of_the_variant_allele_of_the_UBC9_gene_c_73G_A_polymorphism","alternativeTracking":true}"><span class="material-symbols-outlined" style="font-size: 18px" translate="no">download</span><span class="ds2-5-text-link__content">Download free PDF</span></button><a class="ds2-5-text-link ds2-5-text-link--inline js-related-work-grid-card-view-pdf" href="https://www.academia.edu/16695555/Efficacy_of_DNA_double_strand_breaks_repair_in_breast_cancer_is_decreased_in_carriers_of_the_variant_allele_of_the_UBC9_gene_c_73G_A_polymorphism"><span class="ds2-5-text-link__content">View PDF</span><span class="material-symbols-outlined" style="font-size: 18px" translate="no">chevron_right</span></a></div></div><div class="ds-related-work--container js-related-work-sidebar-card" data-collection-position="8" data-entity-id="36206081" data-sort-order="default"><a class="ds-related-work--title js-related-work-grid-card-title ds2-5-body-md ds2-5-body-link" href="https://www.academia.edu/36206081/Impact_of_DNA_Repair_Genes_Polymorphisms_on_Incidence_and_Prognosis_of_Breast_Cancer_in_an_Egyptian_Cohort">Impact of DNA Repair Genes Polymorphisms on Incidence and Prognosis of Breast Cancer in an Egyptian Cohort</a><div class="ds-related-work--metadata"><a class="js-related-work-grid-card-author ds2-5-body-sm ds2-5-body-link" data-author-id="3594081" href="https://independent.academia.edu/sciepubcomSciEP">sciepub.com SciEP</a></div><div class="ds-related-work--ctas"><button class="ds2-5-text-link ds2-5-text-link--inline js-swp-download-button" data-signup-modal="{"location":"wsj-grid-card-download-pdf-modal","work_title":"Impact of DNA Repair Genes Polymorphisms on Incidence and Prognosis of Breast Cancer in an Egyptian Cohort","attachmentId":56107343,"attachmentType":"pdf","work_url":"https://www.academia.edu/36206081/Impact_of_DNA_Repair_Genes_Polymorphisms_on_Incidence_and_Prognosis_of_Breast_Cancer_in_an_Egyptian_Cohort","alternativeTracking":true}"><span class="material-symbols-outlined" style="font-size: 18px" translate="no">download</span><span class="ds2-5-text-link__content">Download free PDF</span></button><a class="ds2-5-text-link ds2-5-text-link--inline js-related-work-grid-card-view-pdf" href="https://www.academia.edu/36206081/Impact_of_DNA_Repair_Genes_Polymorphisms_on_Incidence_and_Prognosis_of_Breast_Cancer_in_an_Egyptian_Cohort"><span class="ds2-5-text-link__content">View PDF</span><span class="material-symbols-outlined" style="font-size: 18px" translate="no">chevron_right</span></a></div></div><div class="ds-related-work--container js-related-work-sidebar-card" data-collection-position="9" data-entity-id="18048799" data-sort-order="default"><a class="ds-related-work--title js-related-work-grid-card-title ds2-5-body-md ds2-5-body-link" href="https://www.academia.edu/18048799/DNA_repair_and_breast_carcinoma_susceptibility_in_women">DNA repair and breast carcinoma susceptibility in women</a><div class="ds-related-work--metadata"><a class="js-related-work-grid-card-author ds2-5-body-sm ds2-5-body-link" data-author-id="359443" href="https://brighamandwomens.academia.edu/RivkaColen">Rivka Colen</a></div><p class="ds-related-work--metadata ds2-5-body-xs">Cancer, 2004</p><div class="ds-related-work--ctas"><button class="ds2-5-text-link ds2-5-text-link--inline js-swp-download-button" data-signup-modal="{"location":"wsj-grid-card-download-pdf-modal","work_title":"DNA repair and breast carcinoma susceptibility in women","attachmentId":39847982,"attachmentType":"pdf","work_url":"https://www.academia.edu/18048799/DNA_repair_and_breast_carcinoma_susceptibility_in_women","alternativeTracking":true}"><span class="material-symbols-outlined" style="font-size: 18px" translate="no">download</span><span class="ds2-5-text-link__content">Download free PDF</span></button><a class="ds2-5-text-link ds2-5-text-link--inline js-related-work-grid-card-view-pdf" href="https://www.academia.edu/18048799/DNA_repair_and_breast_carcinoma_susceptibility_in_women"><span class="ds2-5-text-link__content">View PDF</span><span class="material-symbols-outlined" style="font-size: 18px" translate="no">chevron_right</span></a></div></div></div><div class="ds-related-content--container"><h2 class="ds-related-content--heading">Related topics</h2><div class="ds-research-interests--pills-container"><a class="js-related-research-interest ds-research-interests--pill" data-entity-id="47884" href="https://www.academia.edu/Documents/in/Biological_Sciences">Biological Sciences</a><a class="js-related-research-interest ds-research-interests--pill" data-entity-id="125069" href="https://www.academia.edu/Documents/in/Genetic_Association_Studies">Genetic Association Studies</a><a class="js-related-research-interest ds-research-interests--pill" data-entity-id="188349" href="https://www.academia.edu/Documents/in/Pedigree">Pedigree</a><a class="js-related-research-interest ds-research-interests--pill" data-entity-id="809882" href="https://www.academia.edu/Documents/in/Base_Sequence">Base Sequence</a><a class="js-related-research-interest ds-research-interests--pill" data-entity-id="1819399" href="https://www.academia.edu/Documents/in/Case_Control_Studies">Case Control Studies</a><a class="js-related-research-interest ds-research-interests--pill" data-entity-id="2196342" href="https://www.academia.edu/Documents/in/RecQ_Helicases">RecQ Helicases</a><a class="js-related-research-interest ds-research-interests--pill" data-entity-id="2467566" href="https://www.academia.edu/Documents/in/Molecular_Sequence_Data">Molecular Sequence Data</a></div></div></div></div></div><div class="footer--content"><ul class="footer--main-links hide-on-mobile"><li><a href="https://www.academia.edu/about">About</a></li><li><a href="https://www.academia.edu/press">Press</a></li><li><a rel="nofollow" href="https://medium.com/academia">Blog</a></li><li><a href="https://www.academia.edu/documents">Papers</a></li><li><a href="https://www.academia.edu/topics">Topics</a></li><li><a href="https://www.academia.edu/hiring"><svg style="width: 13px; height: 13px; position: relative; bottom: -1px;" aria-hidden="true" focusable="false" data-prefix="fas" data-icon="briefcase" class="svg-inline--fa fa-briefcase fa-w-16" role="img" xmlns="http://www.w3.org/2000/svg" viewBox="0 0 512 512"><path fill="currentColor" d="M320 336c0 8.84-7.16 16-16 16h-96c-8.84 0-16-7.16-16-16v-48H0v144c0 25.6 22.4 48 48 48h416c25.6 0 48-22.4 48-48V288H320v48zm144-208h-80V80c0-25.6-22.4-48-48-48H176c-25.6 0-48 22.4-48 48v48H48c-25.6 0-48 22.4-48 48v80h512v-80c0-25.6-22.4-48-48-48zm-144 0H192V96h128v32z"></path></svg> <strong>We're Hiring!</strong></a></li><li><a href="https://support.academia.edu/"><svg style="width: 12px; height: 12px; position: relative; bottom: -1px;" aria-hidden="true" focusable="false" data-prefix="fas" data-icon="question-circle" class="svg-inline--fa fa-question-circle fa-w-16" role="img" xmlns="http://www.w3.org/2000/svg" viewBox="0 0 512 512"><path fill="currentColor" d="M504 256c0 136.997-111.043 248-248 248S8 392.997 8 256C8 119.083 119.043 8 256 8s248 111.083 248 248zM262.655 90c-54.497 0-89.255 22.957-116.549 63.758-3.536 5.286-2.353 12.415 2.715 16.258l34.699 26.31c5.205 3.947 12.621 3.008 16.665-2.122 17.864-22.658 30.113-35.797 57.303-35.797 20.429 0 45.698 13.148 45.698 32.958 0 14.976-12.363 22.667-32.534 33.976C247.128 238.528 216 254.941 216 296v4c0 6.627 5.373 12 12 12h56c6.627 0 12-5.373 12-12v-1.333c0-28.462 83.186-29.647 83.186-106.667 0-58.002-60.165-102-116.531-102zM256 338c-25.365 0-46 20.635-46 46 0 25.364 20.635 46 46 46s46-20.636 46-46c0-25.365-20.635-46-46-46z"></path></svg> <strong>Help Center</strong></a></li></ul><ul class="footer--research-interests"><li>Find new research papers in:</li><li><a href="https://www.academia.edu/Documents/in/Physics">Physics</a></li><li><a href="https://www.academia.edu/Documents/in/Chemistry">Chemistry</a></li><li><a href="https://www.academia.edu/Documents/in/Biology">Biology</a></li><li><a href="https://www.academia.edu/Documents/in/Health_Sciences">Health Sciences</a></li><li><a href="https://www.academia.edu/Documents/in/Ecology">Ecology</a></li><li><a href="https://www.academia.edu/Documents/in/Earth_Sciences">Earth Sciences</a></li><li><a href="https://www.academia.edu/Documents/in/Cognitive_Science">Cognitive Science</a></li><li><a href="https://www.academia.edu/Documents/in/Mathematics">Mathematics</a></li><li><a href="https://www.academia.edu/Documents/in/Computer_Science">Computer Science</a></li></ul><ul class="footer--legal-links hide-on-mobile"><li><a href="https://www.academia.edu/terms">Terms</a></li><li><a href="https://www.academia.edu/privacy">Privacy</a></li><li><a href="https://www.academia.edu/copyright">Copyright</a></li><li>Academia ©2024</li></ul></div> </body> </html>