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class="vector-toc-link" href="#See_also"> <div class="vector-toc-text"> <span class="vector-toc-numb">8</span> <span>See also</span> </div> </a> <ul id="toc-See_also-sublist" class="vector-toc-list"> </ul> </li> <li id="toc-References" class="vector-toc-list-item vector-toc-level-1 vector-toc-list-item-expanded"> <a class="vector-toc-link" href="#References"> <div class="vector-toc-text"> <span class="vector-toc-numb">9</span> <span>References</span> </div> </a> <ul id="toc-References-sublist" class="vector-toc-list"> </ul> </li> <li id="toc-Further_reading" class="vector-toc-list-item vector-toc-level-1 vector-toc-list-item-expanded"> <a class="vector-toc-link" href="#Further_reading"> <div class="vector-toc-text"> <span class="vector-toc-numb">10</span> <span>Further reading</span> </div> </a> <ul id="toc-Further_reading-sublist" class="vector-toc-list"> </ul> </li> <li id="toc-External_links" class="vector-toc-list-item vector-toc-level-1 vector-toc-list-item-expanded"> <a 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Available in 19 languages" > <label id="p-lang-btn-label" for="p-lang-btn-checkbox" class="vector-dropdown-label cdx-button cdx-button--fake-button cdx-button--fake-button--enabled cdx-button--weight-quiet cdx-button--action-progressive mw-portlet-lang-heading-19" aria-hidden="true" ><span class="vector-icon mw-ui-icon-language-progressive mw-ui-icon-wikimedia-language-progressive"></span> <span class="vector-dropdown-label-text">19 languages</span> </label> <div class="vector-dropdown-content"> <div class="vector-menu-content"> <ul class="vector-menu-content-list"> <li class="interlanguage-link interwiki-ar mw-list-item"><a href="https://ar.wikipedia.org/wiki/%D8%AF%D8%A7%D8%A1_%D8%A7%D9%84%D8%B3%D9%84%D8%A7%D8%A6%D9%84_%D8%A7%D9%84%D9%88%D8%B1%D9%85%D9%8A_%D8%A7%D9%84%D8%BA%D8%AF%D9%8A_%D8%A7%D9%84%D8%B9%D8%A7%D8%A6%D9%84%D9%8A" title="داء السلائل الورمي الغدي العائلي – Arabic" lang="ar" hreflang="ar" data-title="داء السلائل الورمي الغدي العائلي" data-language-autonym="العربية" data-language-local-name="Arabic" class="interlanguage-link-target"><span>العربية</span></a></li><li class="interlanguage-link interwiki-bs mw-list-item"><a href="https://bs.wikipedia.org/wiki/Porodi%C4%8Dna_adenomska_polipoza" title="Porodična adenomska polipoza – Bosnian" lang="bs" hreflang="bs" data-title="Porodična adenomska polipoza" data-language-autonym="Bosanski" data-language-local-name="Bosnian" class="interlanguage-link-target"><span>Bosanski</span></a></li><li class="interlanguage-link interwiki-ca mw-list-item"><a href="https://ca.wikipedia.org/wiki/Poliposi_adenomatosa_familiar" title="Poliposi adenomatosa familiar – Catalan" lang="ca" hreflang="ca" data-title="Poliposi adenomatosa familiar" data-language-autonym="Català" data-language-local-name="Catalan" class="interlanguage-link-target"><span>Català</span></a></li><li class="interlanguage-link interwiki-cs mw-list-item"><a href="https://cs.wikipedia.org/wiki/Famili%C3%A1rn%C3%AD_adenomat%C3%B3zn%C3%AD_polyp%C3%B3za" title="Familiární adenomatózní polypóza – Czech" lang="cs" hreflang="cs" data-title="Familiární adenomatózní polypóza" data-language-autonym="Čeština" data-language-local-name="Czech" class="interlanguage-link-target"><span>Čeština</span></a></li><li class="interlanguage-link interwiki-da mw-list-item"><a href="https://da.wikipedia.org/wiki/Famili%C3%A6r_adenomat%C3%B8s_polypose" title="Familiær adenomatøs polypose – Danish" lang="da" hreflang="da" data-title="Familiær adenomatøs polypose" data-language-autonym="Dansk" data-language-local-name="Danish" class="interlanguage-link-target"><span>Dansk</span></a></li><li class="interlanguage-link interwiki-de mw-list-item"><a href="https://de.wikipedia.org/wiki/Famili%C3%A4re_adenomat%C3%B6se_Polyposis" title="Familiäre adenomatöse Polyposis – German" lang="de" hreflang="de" data-title="Familiäre adenomatöse Polyposis" data-language-autonym="Deutsch" data-language-local-name="German" class="interlanguage-link-target"><span>Deutsch</span></a></li><li class="interlanguage-link interwiki-es mw-list-item"><a href="https://es.wikipedia.org/wiki/Poliposis_adenomatosa_familiar" title="Poliposis adenomatosa familiar – Spanish" lang="es" hreflang="es" data-title="Poliposis adenomatosa familiar" data-language-autonym="Español" data-language-local-name="Spanish" class="interlanguage-link-target"><span>Español</span></a></li><li class="interlanguage-link interwiki-fa mw-list-item"><a href="https://fa.wikipedia.org/wiki/%D9%BE%D9%88%D9%84%DB%8C%D9%BE%D9%88%D8%B2_%D8%A2%D8%AF%D9%86%D9%88%D9%85%D8%A7%D8%AA%D9%88%D8%B2_%D8%AE%D8%A7%D9%86%D9%88%D8%A7%D8%AF%DA%AF%DB%8C" title="پولیپوز آدنوماتوز خانوادگی – Persian" lang="fa" hreflang="fa" data-title="پولیپوز آدنوماتوز خانوادگی" data-language-autonym="فارسی" data-language-local-name="Persian" class="interlanguage-link-target"><span>فارسی</span></a></li><li class="interlanguage-link interwiki-fr mw-list-item"><a href="https://fr.wikipedia.org/wiki/Polypose_ad%C3%A9nomateuse_familiale" title="Polypose adénomateuse familiale – French" lang="fr" hreflang="fr" data-title="Polypose adénomateuse familiale" data-language-autonym="Français" data-language-local-name="French" class="interlanguage-link-target"><span>Français</span></a></li><li class="interlanguage-link interwiki-ko mw-list-item"><a href="https://ko.wikipedia.org/wiki/%EA%B0%80%EC%A1%B1%EC%84%B1_%EC%83%98%EC%A2%85_%ED%8F%B4%EB%A6%BD%EC%A6%9D" title="가족성 샘종 폴립증 – Korean" lang="ko" hreflang="ko" data-title="가족성 샘종 폴립증" data-language-autonym="한국어" data-language-local-name="Korean" class="interlanguage-link-target"><span>한국어</span></a></li><li class="interlanguage-link interwiki-it mw-list-item"><a href="https://it.wikipedia.org/wiki/Poliposi_adenomatosa_familiare" title="Poliposi adenomatosa familiare – Italian" lang="it" hreflang="it" data-title="Poliposi adenomatosa familiare" data-language-autonym="Italiano" data-language-local-name="Italian" class="interlanguage-link-target"><span>Italiano</span></a></li><li class="interlanguage-link interwiki-he mw-list-item"><a href="https://he.wikipedia.org/wiki/%D7%A4%D7%95%D7%9C%D7%99%D7%A4%D7%95%D7%96%D7%99%D7%A1_%D7%9E%D7%A9%D7%A4%D7%97%D7%AA%D7%99%D7%AA" title="פוליפוזיס משפחתית – Hebrew" lang="he" hreflang="he" data-title="פוליפוזיס משפחתית" data-language-autonym="עברית" data-language-local-name="Hebrew" class="interlanguage-link-target"><span>עברית</span></a></li><li class="interlanguage-link interwiki-nl mw-list-item"><a href="https://nl.wikipedia.org/wiki/Familiaire_adenomateuze_polypose" title="Familiaire adenomateuze polypose – Dutch" lang="nl" hreflang="nl" data-title="Familiaire adenomateuze polypose" data-language-autonym="Nederlands" data-language-local-name="Dutch" class="interlanguage-link-target"><span>Nederlands</span></a></li><li class="interlanguage-link interwiki-ja mw-list-item"><a href="https://ja.wikipedia.org/wiki/%E5%AE%B6%E6%97%8F%E6%80%A7%E5%A4%A7%E8%85%B8%E8%85%BA%E8%85%AB%E7%97%87" title="家族性大腸腺腫症 – Japanese" lang="ja" hreflang="ja" data-title="家族性大腸腺腫症" data-language-autonym="日本語" data-language-local-name="Japanese" class="interlanguage-link-target"><span>日本語</span></a></li><li class="interlanguage-link interwiki-pl mw-list-item"><a href="https://pl.wikipedia.org/wiki/Rodzinna_polipowato%C5%9B%C4%87_gruczolakowata" title="Rodzinna polipowatość gruczolakowata – Polish" lang="pl" hreflang="pl" data-title="Rodzinna polipowatość gruczolakowata" data-language-autonym="Polski" data-language-local-name="Polish" class="interlanguage-link-target"><span>Polski</span></a></li><li class="interlanguage-link interwiki-pt mw-list-item"><a href="https://pt.wikipedia.org/wiki/Polipose_adenomatosa_familiar" title="Polipose adenomatosa familiar – Portuguese" lang="pt" hreflang="pt" data-title="Polipose adenomatosa familiar" data-language-autonym="Português" data-language-local-name="Portuguese" class="interlanguage-link-target"><span>Português</span></a></li><li class="interlanguage-link interwiki-sk mw-list-item"><a href="https://sk.wikipedia.org/wiki/Famili%C3%A1rna_adenomat%C3%B3zna_polyp%C3%B3za" title="Familiárna adenomatózna polypóza – Slovak" lang="sk" hreflang="sk" data-title="Familiárna adenomatózna polypóza" data-language-autonym="Slovenčina" data-language-local-name="Slovak" class="interlanguage-link-target"><span>Slovenčina</span></a></li><li class="interlanguage-link interwiki-fi mw-list-item"><a href="https://fi.wikipedia.org/wiki/Familiaalinen_adenomatoottinen_polypoosi" title="Familiaalinen adenomatoottinen polypoosi – Finnish" lang="fi" hreflang="fi" data-title="Familiaalinen adenomatoottinen polypoosi" data-language-autonym="Suomi" data-language-local-name="Finnish" class="interlanguage-link-target"><span>Suomi</span></a></li><li class="interlanguage-link interwiki-ur mw-list-item"><a href="https://ur.wikipedia.org/wiki/%D8%BA%D8%AF%D9%88%D9%85%DB%8C_%D8%B3%D9%84%DB%8C%D9%84%D8%AA_%D9%82%D9%88%D9%84%D9%88%D9%86%DB%8C" title="غدومی سلیلت قولونی – Urdu" lang="ur" hreflang="ur" data-title="غدومی سلیلت قولونی" data-language-autonym="اردو" data-language-local-name="Urdu" class="interlanguage-link-target"><span>اردو</span></a></li> </ul> <div class="after-portlet after-portlet-lang"><span class="wb-langlinks-edit wb-langlinks-link"><a href="https://www.wikidata.org/wiki/Special:EntityPage/Q1369011#sitelinks-wikipedia" title="Edit interlanguage links" class="wbc-editpage">Edit links</a></span></div> </div> </div> </div> </header> <div class="vector-page-toolbar"> <div class="vector-page-toolbar-container"> <div id="left-navigation"> <nav aria-label="Namespaces"> <div id="p-associated-pages" class="vector-menu vector-menu-tabs mw-portlet mw-portlet-associated-pages" > <div class="vector-menu-content"> <ul class="vector-menu-content-list"> <li id="ca-nstab-main" 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.infobox-subbox{padding:0;border:none;margin:-3px;width:auto;min-width:100%;font-size:100%;clear:none;float:none;background-color:transparent}.mw-parser-output .infobox-3cols-child{margin:auto}.mw-parser-output .infobox .navbar{font-size:100%}@media screen{html.skin-theme-clientpref-night .mw-parser-output .infobox-full-data:not(.notheme)>div:not(.notheme)[style]{background:#1f1f23!important;color:#f8f9fa}}@media screen and (prefers-color-scheme:dark){html.skin-theme-clientpref-os .mw-parser-output .infobox-full-data:not(.notheme) div:not(.notheme){background:#1f1f23!important;color:#f8f9fa}}@media(min-width:640px){body.skin--responsive .mw-parser-output .infobox-table{display:table!important}body.skin--responsive .mw-parser-output .infobox-table>caption{display:table-caption!important}body.skin--responsive .mw-parser-output .infobox-table>tbody{display:table-row-group}body.skin--responsive .mw-parser-output .infobox-table tr{display:table-row!important}body.skin--responsive .mw-parser-output .infobox-table th,body.skin--responsive .mw-parser-output .infobox-table td{padding-left:inherit;padding-right:inherit}}</style><table class="infobox ib-medical-condition"><tbody><tr><th colspan="2" class="infobox-above" style="background:#ccc">Familial adenomatous polyposis</th></tr><tr><th scope="row" class="infobox-label">Other names</th><td class="infobox-data">FAP</td></tr><tr style="background-color: #f8f9fa;"><td colspan="2" class="infobox-full-data"><span class="mw-default-size" typeof="mw:File/Frameless"><a href="/wiki/File:Familial_adenomatous_polyposis_as_seen_on_sigmoidoscopy.jpg" class="mw-file-description"><img src="//upload.wikimedia.org/wikipedia/commons/thumb/2/2b/Familial_adenomatous_polyposis_as_seen_on_sigmoidoscopy.jpg/220px-Familial_adenomatous_polyposis_as_seen_on_sigmoidoscopy.jpg" decoding="async" width="220" height="193" class="mw-file-element" srcset="//upload.wikimedia.org/wikipedia/commons/thumb/2/2b/Familial_adenomatous_polyposis_as_seen_on_sigmoidoscopy.jpg/330px-Familial_adenomatous_polyposis_as_seen_on_sigmoidoscopy.jpg 1.5x, //upload.wikimedia.org/wikipedia/commons/thumb/2/2b/Familial_adenomatous_polyposis_as_seen_on_sigmoidoscopy.jpg/440px-Familial_adenomatous_polyposis_as_seen_on_sigmoidoscopy.jpg 2x" data-file-width="521" data-file-height="457" /></a></span></td></tr><tr><td colspan="2" class="infobox-full-data"><a href="/wiki/Colonoscopy" title="Colonoscopy">Endoscopic</a> image of <a href="/wiki/Sigmoid_colon" title="Sigmoid colon">sigmoid colon</a> of patient with familial adenomatous polyposis</td></tr><tr><th scope="row" class="infobox-label"><a href="/wiki/Medical_specialty" title="Medical specialty">Specialty</a></th><td class="infobox-data"><a href="/wiki/Gastroenterology" title="Gastroenterology">Gastroenterology</a>, <a href="/wiki/Oncology" title="Oncology">Oncology</a></td></tr><tr><th scope="row" class="infobox-label"><a href="/wiki/Complication_(medicine)" title="Complication (medicine)">Complications</a></th><td class="infobox-data"><a href="/wiki/Colorectal_cancer" title="Colorectal cancer">Colorectal cancer</a></td></tr><tr><th scope="row" class="infobox-label">Usual onset</th><td class="infobox-data"><35 years of age</td></tr><tr><th scope="row" class="infobox-label">Duration</th><td class="infobox-data">Lifelong</td></tr><tr><th scope="row" class="infobox-label">Types</th><td class="infobox-data">Classical or attenuated</td></tr><tr><th scope="row" class="infobox-label">Causes</th><td class="infobox-data">APC gene mutation</td></tr><tr><th scope="row" class="infobox-label"><a href="/wiki/Medical_diagnosis" title="Medical diagnosis">Diagnostic method</a></th><td class="infobox-data"><a href="/wiki/Colonoscopy" title="Colonoscopy">Colonoscopy</a> <br />Genetic testing</td></tr><tr><th scope="row" class="infobox-label"><a href="/wiki/Differential_diagnosis" title="Differential diagnosis">Differential diagnosis</a></th><td class="infobox-data"><a href="/wiki/Lynch_syndrome" class="mw-redirect" title="Lynch syndrome">Lynch syndrome</a>, <a href="/wiki/MUTYH-associated_polyposis" title="MUTYH-associated polyposis">MUTYH-associated polyposis</a></td></tr><tr><th scope="row" class="infobox-label">Treatment</th><td class="infobox-data">Colonoscopy <br /><a href="/wiki/Polypectomy" title="Polypectomy">Polypectomy</a> <br /><a href="/wiki/Upper_endoscopy" class="mw-redirect" title="Upper endoscopy">Upper endoscopy</a><br /><a href="/wiki/Colectomy" title="Colectomy">Colectomy</a></td></tr><tr><th scope="row" class="infobox-label">Frequency</th><td class="infobox-data">1 in 10,000 - 15,000</td></tr></tbody></table> <p><b>Familial adenomatous polyposis</b> (<b>FAP</b>) is an <a href="/wiki/Autosomal_dominant" class="mw-redirect" title="Autosomal dominant">autosomal dominant</a> inherited condition in which numerous <a href="/wiki/Adenomatous_polyps" class="mw-redirect" title="Adenomatous polyps">adenomatous</a> <a href="/wiki/Colorectal_polyp" title="Colorectal polyp">polyps</a> form mainly in the <a href="/wiki/Epithelium" title="Epithelium">epithelium</a> of the <a href="/wiki/Colon_(anatomy)" class="mw-redirect" title="Colon (anatomy)">large intestine</a>. While these polyps start out <a href="/wiki/Benign" class="mw-redirect" title="Benign">benign</a>, <a href="/wiki/Malignant_transformation" title="Malignant transformation">malignant transformation</a> into <a href="/wiki/Colorectal_cancer" title="Colorectal cancer">colon cancer</a> occurs when they are left untreated. Three variants are known to exist, FAP and <b><a href="/wiki/Attenuated_FAP" class="mw-redirect" title="Attenuated FAP">attenuated FAP</a></b> (originally called <b>hereditary flat adenoma syndrome</b><sup id="cite_ref-Soravia98_1-0" class="reference"><a href="#cite_note-Soravia98-1"><span class="cite-bracket">[</span>1<span class="cite-bracket">]</span></a></sup>) are caused by <a href="/wiki/APC_gene" class="mw-redirect" title="APC gene"><i>APC</i> gene</a> defects on chromosome 5 while <b>autosomal recessive FAP</b> (or <b><a href="/wiki/MUTYH-associated_polyposis" title="MUTYH-associated polyposis">MUTYH-associated polyposis</a></b>) is caused by defects in the <i><a href="/wiki/MUTYH" title="MUTYH">MUTYH</a></i> gene on chromosome 1. Of the three, FAP itself is the most severe and most common; although for all three, the resulting colonic polyps and cancers are initially confined to the colon wall. Detection and removal before <a href="/wiki/Metastasis" title="Metastasis">metastasis</a> outside the colon can greatly reduce and in many cases eliminate the spread of cancer. </p><p>The root cause of FAP is understood to be a <a href="/wiki/Genetic_mutation" class="mw-redirect" title="Genetic mutation">genetic mutation</a>—a change in the body's <a href="/wiki/Tumour_suppressor_gene" class="mw-redirect" title="Tumour suppressor gene">tumour suppressor genes</a> that prevent development of tumours. The change allows numerous cells of the intestinal wall to develop into potentially cancerous polyps when they would usually reach the end of their life; inevitably one or more will eventually progress and give rise to <a href="/wiki/Cancer" title="Cancer">cancer</a> (7% risk by age 21, rising to 87% by age 45 and 93% by age 50). These gene changes do not trigger cancer, but rather, they reduce the body's ability to prevent cells from becoming cancerous. Even with the gene change, it may still take time before a cell actually does develop that is cancerous as a result, and the gene may in some cases still partially operate to control tumours, therefore cancer from FAP takes many years to develop and is almost always an adult-onset disease. </p><p>The second form of FAP, known as <b><a href="/wiki/Attenuation" title="Attenuation">attenuated</a> familial adenomatous polyposis</b> has the <i>APC</i> gene functional but slightly impaired. It is therefore somewhat able to operate as usual. Attenuated FAP still presents a high 70% lifetime risk of cancer (as estimated), but typically presents with far fewer polyps (typically 30) rather than the hundreds or thousands usually found in FAP,<sup id="cite_ref-NBK1345_2-0" class="reference"><a href="#cite_note-NBK1345-2"><span class="cite-bracket">[</span>2<span class="cite-bracket">]</span></a></sup> and arises at an age when FAP is usually no longer considered likely—typically between 40 and 70 years old (average 55<sup id="cite_ref-:0_3-0" class="reference"><a href="#cite_note-:0-3"><span class="cite-bracket">[</span>3<span class="cite-bracket">]</span></a></sup>) rather than the more usual 30s upward. Because it has far fewer polyps, options for management may be different.<sup id="cite_ref-NBK1345_2-1" class="reference"><a href="#cite_note-NBK1345-2"><span class="cite-bracket">[</span>2<span class="cite-bracket">]</span></a></sup> </p><p>The third variant, <b>autosomal recessive familial adenomatous polyposis</b> or <b>MUTYH-associated polyposis</b>, is also milder and, as its name suggests, requires <a href="/wiki/Recessive_gene" class="mw-redirect" title="Recessive gene">both parents to be 'carriers'</a> to manifest the condition. </p><p>In some cases FAP can manifest higher in the colon than usual (for example, the <a href="/wiki/Ascending_colon" title="Ascending colon">ascending colon</a>,<sup class="noprint Inline-Template Template-Fact" style="white-space:nowrap;">[<i><a href="/wiki/Wikipedia:Citation_needed" title="Wikipedia:Citation needed"><span title="This claim needs references to reliable sources. (January 2014)">citation needed</span></a></i>]</sup> or proximal to the <a href="/wiki/Splenic_flexure" class="mw-redirect" title="Splenic flexure">splenic flexure</a>, or in the stomach or duodenum<sup id="cite_ref-Soravia98_1-1" class="reference"><a href="#cite_note-Soravia98-1"><span class="cite-bracket">[</span>1<span class="cite-bracket">]</span></a></sup>) where they show no symptoms until cancer is present and greatly advanced. APC mutations have been linked to certain other cancers such as <a href="/wiki/Thyroid_cancer" title="Thyroid cancer">thyroid cancer</a>. As the mutation causing FAP is autosomal dominant, it can be inherited directly from either parent to a child. A <a href="/wiki/Genetic_testing" title="Genetic testing">genetic blood test</a> of the <i>APC</i> gene exists that can determine whether it is present, and therefore can predict the possibility of FAP. Individuals at risk (due to family links or genetic testing) are usually offered routine monitoring of the intestinal tract every 1–3 years for life, from puberty for FAP and early adulthood for attenuated forms. Colon resection surgery is recommended if numerous colon polyps are found due to high risk of early death from colon cancer. International polyposis registries exist that track known cases of FAP or <i>APC</i> gene defects, for research and clinical purposes. Mutation of APC also occurs commonly in incident cases of colorectal carcinoma, emphasizing its importance in this form of cancer. </p> <meta property="mw:PageProp/toc" /> <div class="mw-heading mw-heading2"><h2 id="Signs_and_symptoms">Signs and symptoms</h2><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Familial_adenomatous_polyposis&action=edit&section=1" title="Edit section: Signs and symptoms"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <p>From early adolescence, patients with this condition gradually (and much of the time asymptomatically) develop hundreds to thousands of <a href="/wiki/Colorectal_polyp" title="Colorectal polyp">colorectal polyps</a> (and sometimes <a href="/wiki/Polyp_(medicine)" title="Polyp (medicine)">polyps elsewhere</a>)—small abnormalities at the surface of the <a href="/wiki/Intestinal_tract" class="mw-redirect" title="Intestinal tract">intestinal tract</a>, especially in the <a href="/wiki/Large_intestine" title="Large intestine">large intestine</a> including the <a href="/wiki/Colon_(anatomy)" class="mw-redirect" title="Colon (anatomy)">colon</a> or <a href="/wiki/Rectum" title="Rectum">rectum</a>. These may bleed, leading to blood in the stool. If the blood is not visible, it is still possible for the patient to develop <a href="/wiki/Anemia" title="Anemia">anemia</a> due to gradually developing iron deficiency. If malignancy develops, this may present with <a href="/wiki/Weight_loss" title="Weight loss">weight loss</a>, altered bowel habit, or even <a href="/wiki/Metastasis" title="Metastasis">metastasis</a> to the <a href="/wiki/Liver" title="Liver">liver</a> or elsewhere. FAP can also develop 'silently' in some individuals, giving few or no signs until it has developed into advanced <a href="/wiki/Colorectal_cancer" title="Colorectal cancer">colorectal cancer</a>.<sup class="noprint Inline-Template Template-Fact" style="white-space:nowrap;">[<i><a href="/wiki/Wikipedia:Citation_needed" title="Wikipedia:Citation needed"><span title="This claim needs references to reliable sources. (September 2021)">citation needed</span></a></i>]</sup> </p><p>Because familial polyposis develops very gradually over years, and can also manifest in an 'attenuated' form even more gradually, polyps resulting from FAP can lead to cancer developing at any point from adolescence to old age.<sup class="noprint Inline-Template Template-Fact" style="white-space:nowrap;">[<i><a href="/wiki/Wikipedia:Citation_needed" title="Wikipedia:Citation needed"><span title="This claim needs references to reliable sources. (September 2021)">citation needed</span></a></i>]</sup> </p><p>Depending on the nature of the defect in the APC gene, and whether it is the full or attenuated form, familial polyposis may manifest as polyps in colon or in the <a href="/wiki/Duodenum" title="Duodenum">duodenal tract</a>, or in any combination of these. Therefore, an absence of polyps in, for example, the rectum, may not of itself be sufficient to confirm absence of polyps. It may be necessary to consider and visually examine other possible parts of the intestinal tract. <a href="/wiki/Colonoscopy" title="Colonoscopy">Colonoscopy</a> is preferred over <a href="/wiki/Sigmoidoscopy" title="Sigmoidoscopy">sigmoidoscopy</a> for this, as it provides better observation of the common right-side location of polyps.<sup id="cite_ref-Soravia98_1-2" class="reference"><a href="#cite_note-Soravia98-1"><span class="cite-bracket">[</span>1<span class="cite-bracket">]</span></a></sup> </p> <figure class="mw-default-size" typeof="mw:File/Thumb"><a href="/wiki/File:Congenital_hypertrophy_of_the_retinal_pigment_epithelium.jpg" class="mw-file-description"><img src="//upload.wikimedia.org/wikipedia/commons/thumb/d/d6/Congenital_hypertrophy_of_the_retinal_pigment_epithelium.jpg/220px-Congenital_hypertrophy_of_the_retinal_pigment_epithelium.jpg" decoding="async" width="220" height="151" class="mw-file-element" srcset="//upload.wikimedia.org/wikipedia/commons/thumb/d/d6/Congenital_hypertrophy_of_the_retinal_pigment_epithelium.jpg/330px-Congenital_hypertrophy_of_the_retinal_pigment_epithelium.jpg 1.5x, //upload.wikimedia.org/wikipedia/commons/thumb/d/d6/Congenital_hypertrophy_of_the_retinal_pigment_epithelium.jpg/440px-Congenital_hypertrophy_of_the_retinal_pigment_epithelium.jpg 2x" data-file-width="709" data-file-height="487" /></a><figcaption>CHRPE - Congenital hypertrophy of the retinal pigment epithelium</figcaption></figure> <p>The genetic determinant in familial polyposis may also predispose carriers to other malignancies, e.g., of the duodenum and <a href="/wiki/Stomach" title="Stomach">stomach</a> (particularly ampullary adenocarcinoma). Other signs that may point to FAP are the development of <a href="/wiki/Gardner_fibroma" title="Gardner fibroma">Gardner fibromas</a> and <a href="/wiki/Desmoid_tumors" class="mw-redirect" title="Desmoid tumors">desmoid tumors</a> (benign skin tumors that may be apparent before other signs of FAP),<sup id="cite_ref-pmid31950474_4-0" class="reference"><a href="#cite_note-pmid31950474-4"><span class="cite-bracket">[</span>4<span class="cite-bracket">]</span></a></sup> pigmented lesions of the <a href="/wiki/Retina" title="Retina">retina</a> ("CHRPE—congenital hypertrophy of the retinal pigment epithelium"), jaw cysts, <a href="/wiki/Sebaceous_cyst" title="Sebaceous cyst">sebaceous cysts</a>, and <a href="/wiki/Osteoma" title="Osteoma">osteomata</a> (benign bone tumors). The combination of polyposis, osteomas, <a href="/wiki/Fibroma" title="Fibroma">fibromas</a> and <a href="/wiki/Sebaceous_cyst" title="Sebaceous cyst">sebaceous cysts</a> is termed <i><a href="/wiki/Gardner%27s_syndrome" title="Gardner's syndrome">Gardner's syndrome</a></i> (with or without abnormal scarring).<sup id="cite_ref-5" class="reference"><a href="#cite_note-5"><span class="cite-bracket">[</span>5<span class="cite-bracket">]</span></a></sup> </p> <div class="mw-heading mw-heading2"><h2 id="Genetics">Genetics</h2><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Familial_adenomatous_polyposis&action=edit&section=2" title="Edit section: Genetics"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <p>Familial adenomatous polyposis can have different inheritance patterns and different genetic causes. When this condition results from mutations in the <a href="/wiki/APC_gene" class="mw-redirect" title="APC gene"><i>APC</i> gene</a>, it is inherited in an <a href="/wiki/Autosomal_dominant" class="mw-redirect" title="Autosomal dominant">autosomal dominant</a> pattern, which means one copy of the altered gene is sufficient to cause the disorder. The incidence of malignancy in these cases approaches 100%. In most cases, an affected person has one parent with the condition.<sup class="noprint Inline-Template Template-Fact" style="white-space:nowrap;">[<i><a href="/wiki/Wikipedia:Citation_needed" title="Wikipedia:Citation needed"><span title="This claim needs references to reliable sources. (September 2021)">citation needed</span></a></i>]</sup> </p> <div class="mw-heading mw-heading3"><h3 id="APC_gene_mutation_variants">APC gene mutation variants</h3><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Familial_adenomatous_polyposis&action=edit&section=3" title="Edit section: APC gene mutation variants"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <p>The <i><a href="/wiki/APC_(gene)" class="mw-redirect" title="APC (gene)">APC</a></i> is a <a href="/wiki/Tumour_suppressor_gene" class="mw-redirect" title="Tumour suppressor gene">tumour suppressor gene</a> responsible for the production of <a href="/wiki/Adenomatous_polyposis_coli" title="Adenomatous polyposis coli">adenomatous polyposis coli</a> (APC), a large multifunction tumour-suppressing protein which acts as a "gatekeeper" to prevent development of tumours. (APC regulates <a href="/wiki/%CE%92-catenin" class="mw-redirect" title="Β-catenin">β-catenin</a>, a protein that plays a crucial role in cell communication, signalling, growth, and controlled destruction, but which left uncontrolled also <a href="/wiki/Carcinogenesis" title="Carcinogenesis">gives rise to numerous cancers</a><sup id="cite_ref-Soravia98_1-3" class="reference"><a href="#cite_note-Soravia98-1"><span class="cite-bracket">[</span>1<span class="cite-bracket">]</span></a></sup>). A flaw in the APC gene means APC is not as effective as it should be, and over time it is likely that some cells that should have been controlled by APC will not be, and will instead continue to develop and become cancerous. In familiar polyposis they usually manifest as <a href="/wiki/Polyp_(medicine)" title="Polyp (medicine)">polyps</a>—small abnormalities on the surface of the <a href="/wiki/Intestinal_tract" class="mw-redirect" title="Intestinal tract">intestinal tract</a>.<sup class="noprint Inline-Template Template-Fact" style="white-space:nowrap;">[<i><a href="/wiki/Wikipedia:Citation_needed" title="Wikipedia:Citation needed"><span title="This claim needs references to reliable sources. (September 2021)">citation needed</span></a></i>]</sup> </p><p>Although the polyps are inherently benign, the first step of the <a href="/wiki/Knudson_hypothesis" class="mw-redirect" title="Knudson hypothesis">two-hit hypothesis</a> has already taken place: the inherited APC mutation. Often, the remaining "normal" <a href="/wiki/Allele" title="Allele">allele</a> is mutated or deleted, accelerating generation of polyps. Further mutations (e.g., in <a href="/wiki/P53" title="P53">p53</a> or <i>kRAS</i>) to APC-mutated cells are much more likely to lead to cancer than they would in non-mutated <a href="/wiki/Epithelium" title="Epithelium">epithelial</a> cells.<sup class="noprint Inline-Template Template-Fact" style="white-space:nowrap;">[<i><a href="/wiki/Wikipedia:Citation_needed" title="Wikipedia:Citation needed"><span title="This claim needs references to reliable sources. (September 2021)">citation needed</span></a></i>]</sup> </p><p>The normal function of the APC gene product is still being investigated; it is present in both the <a href="/wiki/Cell_nucleus" title="Cell nucleus">cell nucleus</a> and the membrane. The canonical tumor-suppressor function of APC is suppression of β-catenin, but other tumor-suppressor functions of APC may be related to cell adherence and <a href="/wiki/Cytoskeleton" title="Cytoskeleton">cytoskeleton</a> organization. </p><p>Mutation of <i>APC</i> also occurs commonly in incident cases of colorectal carcinoma, emphasizing its importance in this form of cancer. </p> <div class="mw-heading mw-heading3"><h3 id="MUTYH_gene_mutation_variants">MUTYH gene mutation variants</h3><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Familial_adenomatous_polyposis&action=edit&section=4" title="Edit section: MUTYH gene mutation variants"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <style data-mw-deduplicate="TemplateStyles:r1236090951">.mw-parser-output .hatnote{font-style:italic}.mw-parser-output div.hatnote{padding-left:1.6em;margin-bottom:0.5em}.mw-parser-output .hatnote i{font-style:normal}.mw-parser-output .hatnote+link+.hatnote{margin-top:-0.5em}@media print{body.ns-0 .mw-parser-output .hatnote{display:none!important}}</style><div role="note" class="hatnote navigation-not-searchable">Main article: <a href="/wiki/MUTYH-associated_polyposis" title="MUTYH-associated polyposis">MUTYH-associated polyposis</a></div> <p><i><a href="/wiki/MUTYH" title="MUTYH">MUTYH</a></i> encodes <a href="/wiki/DNA_repair" title="DNA repair">DNA repair</a> enzyme <a href="/w/index.php?title=MYH_glycosylase&action=edit&redlink=1" class="new" title="MYH glycosylase (page does not exist)">MYH glycosylase</a>. During normal cellular activities, <a href="/wiki/Guanine" title="Guanine">guanine</a> sometimes becomes altered by <a href="/wiki/Oxygen" title="Oxygen">oxygen</a>, which causes it to pair with <a href="/wiki/Adenine" title="Adenine">adenine</a> instead of <a href="/wiki/Cytosine" title="Cytosine">cytosine</a>. MYH glycosylase fixes these mistakes by <a href="/wiki/Base_excision_repair" title="Base excision repair">base excision repair</a>, such that <a href="/wiki/Mutation" title="Mutation">mutations</a> do not accumulate in the <a href="/wiki/DNA" title="DNA">DNA</a> and lead to tumor formation. When MYH glycosylase does not function correctly, DNA errors may accrue to initiate tumorigenesis with a clinical presentation similar to that in patients with APC mutations.<sup class="noprint Inline-Template Template-Fact" style="white-space:nowrap;">[<i><a href="/wiki/Wikipedia:Citation_needed" title="Wikipedia:Citation needed"><span title="This claim needs references to reliable sources. (September 2021)">citation needed</span></a></i>]</sup> </p><p>Mutations in the <i>MUTYH</i> gene are inherited in an <a href="/wiki/Autosomal_recessive" class="mw-redirect" title="Autosomal recessive">autosomal recessive</a> pattern, which means two copies of the gene must be altered for a person to be affected by the disorder. Most often, the parents of a child with an autosomal recessive disorder are not affected but are carriers of one copy of the altered gene. </p> <div class="mw-heading mw-heading3"><h3 id="Animal_models">Animal models</h3><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Familial_adenomatous_polyposis&action=edit&section=5" title="Edit section: Animal models"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <p>The "<i>Apc<sup>Min</sup></i>" mouse model was described in 1990 and carries an <i>Apc</i> allele with a stop codon at position 850. Heterozygosity for this mutation results in a fully penetrant phenotype on most genetic backgrounds, with mice on a sensitive background developing over 100 tumors in the intestinal tract. The number and location of the intestinal tumors are modified by unlinked genes. Many other models have since appeared, including a model of attenuated FAP (the 1638N model) and several <a href="/w/index.php?title=Conditional_mutants&action=edit&redlink=1" class="new" title="Conditional mutants (page does not exist)">conditional mutants</a> that allow for tissue-specific or temporal ablation of gene function. For more information see <a href="/wiki/Mouse_models_of_colorectal_and_intestinal_cancer" class="mw-redirect" title="Mouse models of colorectal and intestinal cancer">mouse models of colorectal and intestinal cancer</a>.<sup class="noprint Inline-Template Template-Fact" style="white-space:nowrap;">[<i><a href="/wiki/Wikipedia:Citation_needed" title="Wikipedia:Citation needed"><span title="This claim needs references to reliable sources. (September 2021)">citation needed</span></a></i>]</sup> </p><p>In 2007, the "ApcPirc" rat model was isolated with a stop codon at position 1137.<sup id="cite_ref-6" class="reference"><a href="#cite_note-6"><span class="cite-bracket">[</span>6<span class="cite-bracket">]</span></a></sup> In contrast to the mouse models where >90% of tumors form in the small intestine, the Pirc rat forms tumors preferentially (>60%) in the large intestine, similar to the human clinical presentation. </p> <div class="mw-heading mw-heading2"><h2 id="Diagnosis">Diagnosis</h2><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Familial_adenomatous_polyposis&action=edit&section=6" title="Edit section: Diagnosis"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <figure class="mw-halign-right" typeof="mw:File/Thumb"><a href="/wiki/File:Tubular_adenoma_2_high_mag.jpg" class="mw-file-description"><img src="//upload.wikimedia.org/wikipedia/commons/thumb/d/d7/Tubular_adenoma_2_high_mag.jpg/200px-Tubular_adenoma_2_high_mag.jpg" decoding="async" width="200" height="133" class="mw-file-element" srcset="//upload.wikimedia.org/wikipedia/commons/thumb/d/d7/Tubular_adenoma_2_high_mag.jpg/300px-Tubular_adenoma_2_high_mag.jpg 1.5x, //upload.wikimedia.org/wikipedia/commons/thumb/d/d7/Tubular_adenoma_2_high_mag.jpg/400px-Tubular_adenoma_2_high_mag.jpg 2x" data-file-width="4272" data-file-height="2848" /></a><figcaption><a href="/wiki/Micrograph" title="Micrograph">Micrograph</a> of a tubular adenoma, the <a href="/wiki/Colorectal_cancer" title="Colorectal cancer">colorectal cancer</a> precursor most commonly associated with FAP</figcaption></figure> <p>Making the diagnosis of FAP before the development of colon cancer is important not just for the individual, but also for the sake of other family members who may be affected. Two diagnostic methods exist:<sup class="noprint Inline-Template Template-Fact" style="white-space:nowrap;">[<i><a href="/wiki/Wikipedia:Citation_needed" title="Wikipedia:Citation needed"><span title="This claim needs references to reliable sources. (September 2021)">citation needed</span></a></i>]</sup> </p> <ul><li><a href="/wiki/Colonoscopy" title="Colonoscopy">Colonoscopy</a> is the usual diagnostic test of choice as it favours the common right-side location of polyps better than sigmoidoscopy if the mutation is attenuated FAP,<sup id="cite_ref-Soravia98_1-4" class="reference"><a href="#cite_note-Soravia98-1"><span class="cite-bracket">[</span>1<span class="cite-bracket">]</span></a></sup> and can confirm or allow (a) the actual clinical presentation and any change to the condition, of the 'at risk' individual, (b) quantification of polyps throughout the colon, (c) a <a href="/wiki/Histology" title="Histology">histologic</a> diagnosis (cell/cancer type detection) and (d) where polyps exist, it can suggest whether outpatient excision (removal) is viable or surgery is recommended. <a href="/wiki/Barium_enema" class="mw-redirect" title="Barium enema">Barium enema</a> and <a href="/wiki/Virtual_colonoscopy" title="Virtual colonoscopy">virtual colonoscopy</a> (a form of medical imaging) can also be used to suggest the diagnosis of FAP.</li> <li><a href="/wiki/Genetic_testing" title="Genetic testing">Genetic testing</a> provides the ultimate diagnosis in 95% of cases; <a href="/wiki/Genetic_counseling" title="Genetic counseling">genetic counseling</a> is usually needed in families where FAP has been diagnosed. Testing may also aid in the diagnosis of borderline cases in families that are otherwise known to p34.3 and p32.1 (1p34.3–p32.1). Testing can only show if an individual is susceptible to FAP or rule it out (i.e., whether or not they inherited the defective APC gene). It cannot determine the actual condition of a patient; this can only be found by direct physical examination.</li></ul> <p>NCBI states that physicians must ensure they understand the "risks, benefits, and limitations" of any genetic test done since in 1997 "for almost one-third of individuals assessed for FAP, the physician misinterpreted the test results".<sup id="cite_ref-7" class="reference"><a href="#cite_note-7"><span class="cite-bracket">[</span>7<span class="cite-bracket">]</span></a></sup> </p><p>Once the diagnosis of FAP is made, close <a href="/wiki/Colonoscopy" title="Colonoscopy">colonoscopic</a> surveillance with <a href="/wiki/Polypectomy" title="Polypectomy">polypectomy</a> is required. </p><p><a href="/wiki/Prenatal_testing" title="Prenatal testing">Prenatal testing</a> is possible if a disease-causing mutation is identified in an affected family member; however, prenatal testing for typically adult-onset disorders is uncommon and requires careful <a href="/wiki/Genetic_counseling" title="Genetic counseling">genetic counseling</a>. </p><p><a href="/wiki/Medical_ultrasonography" class="mw-redirect" title="Medical ultrasonography">Ultrasound</a> of the abdomen and <a href="/wiki/Blood_test" title="Blood test">blood tests</a> evaluating <a href="/wiki/Liver_function_tests" title="Liver function tests">liver function</a> are often performed to rule out <a href="/wiki/Metastasis" title="Metastasis">metastasis</a> to the liver. </p> <div class="mw-heading mw-heading2"><h2 id="Management">Management</h2><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Familial_adenomatous_polyposis&action=edit&section=7" title="Edit section: Management"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <figure class="mw-default-size" typeof="mw:File/Thumb"><a href="/wiki/File:Familial_Adenomatous_Polyposes_Colon_-1.jpg" class="mw-file-description"><img src="//upload.wikimedia.org/wikipedia/commons/thumb/9/91/Familial_Adenomatous_Polyposes_Colon_-1.jpg/220px-Familial_Adenomatous_Polyposes_Colon_-1.jpg" decoding="async" width="220" height="183" class="mw-file-element" srcset="//upload.wikimedia.org/wikipedia/commons/thumb/9/91/Familial_Adenomatous_Polyposes_Colon_-1.jpg/330px-Familial_Adenomatous_Polyposes_Colon_-1.jpg 1.5x, //upload.wikimedia.org/wikipedia/commons/thumb/9/91/Familial_Adenomatous_Polyposes_Colon_-1.jpg/440px-Familial_Adenomatous_Polyposes_Colon_-1.jpg 2x" data-file-width="577" data-file-height="479" /></a><figcaption><a href="/wiki/Colectomy" title="Colectomy">Colectomy</a> specimen showing numerous polyps throughout the large bowel</figcaption></figure> <p>Because of the way familial polyposis develops, it is possible to have the genetic condition, and therefore be at risk, but have no polyps or issues so far. Therefore, an individual may be diagnosed "at risk of" FAP, and require routine monitoring, but not (yet) actually have FAP (i.e., carries a defective gene but as yet appears not to have any actual medical issue as a result of this). Clinical management can cover several areas:<sup class="noprint Inline-Template Template-Fact" style="white-space:nowrap;">[<i><a href="/wiki/Wikipedia:Citation_needed" title="Wikipedia:Citation needed"><span title="This claim needs references to reliable sources. (September 2021)">citation needed</span></a></i>]</sup> </p> <ul><li>Identifying those individuals who could be at risk of FAP: usually from family medical history or genetic testing</li> <li>Diagnosis (confirming whether they have FAP)—this can be done either by genetic testing, which is definitive or by visually checking the intestinal tract itself.</li></ul> <dl><dd><dl><dd>It is important to note that visual examination, or monitoring, cannot 'clear' a person of risk. It can only say what their condition is at the time. If at any point in their life the person develops numerous polyps, this would tend to suggest a diagnosis of FAP. (Absence of polyps does not 'clear' a person, as polyps can develop later in life; also a few polyps over time are not that uncommon in people without FAP. However a <i>substantial</i> number or a <i>profusion</i> of polyps would generally tend to suggest a diagnosis of FAP, and <a href="/wiki/Histopathology" title="Histopathology">histopathology</a> to determine whether or not any polyps are cancerous.)</dd></dl></dd></dl> <ul><li>Screening/monitoring programs involve visually examining the intestinal tract to check its healthy condition. It is undertaken as a routine matter every few years where there is cause for concern when either (a) a genetic test has confirmed the risk or (b) a genetic test has not been undertaken for any reason so the actual risk is unknown. Screening and monitoring allow polyposis to be detected visually before it can become life-threatening.</li> <li>Treatment, typically surgery of some kind, is involved if polyposis has led to a large number of polyps, or a significant risk of cancer, or actual cancer.</li></ul> <div class="mw-heading mw-heading3"><h3 id="Family_history">Family history</h3><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Familial_adenomatous_polyposis&action=edit&section=8" title="Edit section: Family history"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <p>NCBI states that "Although most individuals diagnosed with an APC-associated polyposis condition have an affected parent, the family history may appear to be negative because of failure to recognize the disorder in family members, early death of the parent before the onset of symptoms, or late onset of the disease in the affected parent."<sup id="cite_ref-NBK1345_2-2" class="reference"><a href="#cite_note-NBK1345-2"><span class="cite-bracket">[</span>2<span class="cite-bracket">]</span></a></sup> In addition around 20% of cases are a <i>de novo</i> mutation, and of those with an apparent de novo APC mutation (i.e. no known family history) 20% have <a href="/wiki/Somatic_mosaicism" class="mw-redirect" title="Somatic mosaicism">somatic mosaicism</a>.<sup id="cite_ref-8" class="reference"><a href="#cite_note-8"><span class="cite-bracket">[</span>8<span class="cite-bracket">]</span></a></sup> Asymptomatic individuals (and therefore asymptomatic family members) are also known to exist.<sup id="cite_ref-NBK1345_2-3" class="reference"><a href="#cite_note-NBK1345-2"><span class="cite-bracket">[</span>2<span class="cite-bracket">]</span></a></sup> </p> <div class="mw-heading mw-heading3"><h3 id="Monitoring">Monitoring</h3><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Familial_adenomatous_polyposis&action=edit&section=9" title="Edit section: Monitoring"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <p>Monitoring involves the provision of <a href="/wiki/Outpatient" class="mw-redirect" title="Outpatient">outpatient</a> <a href="/wiki/Colonoscopy" title="Colonoscopy">colonoscopy</a>, and occasionally upper gastric tract <a href="/wiki/Esophagogastroduodenoscopy" title="Esophagogastroduodenoscopy">esophagogastroduodenoscopy</a> (EGD, to search for premalignant gastric or <a href="/wiki/Duodenal_cancer" title="Duodenal cancer">duodenal cancers</a><sup id="cite_ref-Soravia98_1-5" class="reference"><a href="#cite_note-Soravia98-1"><span class="cite-bracket">[</span>1<span class="cite-bracket">]</span></a></sup>), typically once every 1–3 years, and/or a genetic blood test to definitively confirm or deny susceptibility. A small number of polyps can often be <a href="/wiki/Surgery#Types_of_surgery" title="Surgery">excised</a> (removed) during the procedure if found, but if there are more severe signs or numbers, inpatient <a href="/wiki/Surgery" title="Surgery">surgery</a> may be required.<sup class="noprint Inline-Template Template-Fact" style="white-space:nowrap;">[<i><a href="/wiki/Wikipedia:Citation_needed" title="Wikipedia:Citation needed"><span title="This claim needs references to reliable sources. (September 2021)">citation needed</span></a></i>]</sup> </p><p>NCBI states that when an individual is identified as having FAP, or the mutations resulting in FAP: "It is appropriate to evaluate the parents of an affected individual (a) with molecular genetic testing of APC if the disease-causing mutation is known in the <a href="/wiki/Proband" title="Proband">proband</a> [person first identified with the condition] or (b) for clinical manifestations of APC-associated polyposis conditions".<sup id="cite_ref-NBK1345_2-4" class="reference"><a href="#cite_note-NBK1345-2"><span class="cite-bracket">[</span>2<span class="cite-bracket">]</span></a></sup> </p> <div class="mw-heading mw-heading3"><h3 id="Treatment">Treatment</h3><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Familial_adenomatous_polyposis&action=edit&section=10" title="Edit section: Treatment"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <p>Treatment for FAP depends on the <a href="/wiki/Genotype" title="Genotype">genotype</a>. Most individuals with the APC mutation will develop colon cancer by the age of 40, although the less-common attenuated version typically manifests later in life (40–70). Accordingly, in many cases, <a href="/wiki/Prophylactic" class="mw-redirect" title="Prophylactic">prophylactic</a> surgery may be recommended before the age of 25, or upon detection if actively monitored. There are several surgical options that involve the removal of either the colon or both the colon and rectum. </p> <ul><li>Rectum involved: the rectum and part or all of the colon are removed. The patient may require an <a href="/wiki/Ileostomy" title="Ileostomy">ileostomy</a> (permanent <a href="/wiki/Stoma" title="Stoma">stoma</a> where stool goes into a bag on the abdomen) or have an <a href="/wiki/Ileo-anal_pouch" title="Ileo-anal pouch">ileo-anal pouch</a> reconstruction. The decision to remove the rectum depends on the number of polyps in the rectum as well as the family history. If the rectum has few polyps, the colon is partly or fully removed and the small bowel (ileum) can be directly connected to the rectum instead (<a href="/w/index.php?title=Ileorectal_anastomosis&action=edit&redlink=1" class="new" title="Ileorectal anastomosis (page does not exist)">ileorectal anastomosis</a>).</li> <li>Rectum not involved: the portion of the colon manifesting polyps can be removed and the ends 'rejoined' (<a href="/wiki/Colectomy" title="Colectomy">partial colectomy</a>), a surgery that has a substantial healing time but leaves quality of life largely intact.</li></ul> <p><a href="/wiki/Prophylaxis" class="mw-redirect" title="Prophylaxis">Prophylactic</a> <a href="/wiki/Colectomy" title="Colectomy">colectomy</a> is indicated if more than a hundred polyps are present, if there are severely dysplastic polyps, or if multiple polyps larger than 1 cm are present. </p><p>Treatment for the two milder forms of FAP may be substantially different from the more usual variant, as the number of polyps is far fewer, allowing more options. </p><p>Various medications are being investigated for slowing malignant degeneration of polyps, most prominently the <a href="/wiki/Non-steroidal_anti-inflammatory_drug" class="mw-redirect" title="Non-steroidal anti-inflammatory drug">non-steroidal anti-inflammatory drugs</a> (NSAIDs). NSAIDS have been shown to significantly decrease the number of polyps but do not usually alter management since there are still too many polyps to be followed and treated endoscopically. The drug <a href="/wiki/Eflornithine" title="Eflornithine">eflornithine</a>, an inhibitor of <a href="/wiki/Ornithine_decarboxylase" title="Ornithine decarboxylase">ornithine decarboxylase</a> typically used to treat <a href="/wiki/Trypanosomiasis" title="Trypanosomiasis">trypanosomiasis</a>, is being investigated as a potential preventive medication in combination with the NSAID <a href="/wiki/Celecoxib" title="Celecoxib">celecoxib</a> for treatment of FAP. Another investigational agent is <a href="/wiki/Sulindac" title="Sulindac">sulindac</a>, also used in combination with NSAIDs.<sup id="cite_ref-9" class="reference"><a href="#cite_note-9"><span class="cite-bracket">[</span>9<span class="cite-bracket">]</span></a></sup><sup id="cite_ref-10" class="reference"><a href="#cite_note-10"><span class="cite-bracket">[</span>10<span class="cite-bracket">]</span></a></sup><sup id="cite_ref-11" class="reference"><a href="#cite_note-11"><span class="cite-bracket">[</span>11<span class="cite-bracket">]</span></a></sup> </p> <div class="mw-heading mw-heading2"><h2 id="Prognosis">Prognosis</h2><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Familial_adenomatous_polyposis&action=edit&section=11" title="Edit section: Prognosis"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <p>Prior to reaching the advanced stages of colorectal cancer, the polyps are confined to the inner wall and thickness of the intestinal tract and do not metastasize or 'spread'. So provided FAP is detected and controlled either at the pre-cancerous stage or when any cancerous polyps are still internal to the intestinal tract, surgery has a very high success rate of preventing or removing cancer, without recurrence, since the locations giving rise to cancer are physically removed <i>in toto</i> by the surgery.<sup class="noprint Inline-Template Template-Fact" style="white-space:nowrap;">[<i><a href="/wiki/Wikipedia:Citation_needed" title="Wikipedia:Citation needed"><span title="This claim needs references to reliable sources. (September 2021)">citation needed</span></a></i>]</sup> </p><p>Following surgery, if a partial <a href="/wiki/Colectomy" title="Colectomy">colectomy</a> has been performed, colonoscopic surveillance of the remaining colon is necessary as the individual still has a risk of developing colon cancer. However, if this happened, it would be a fresh incident from polyps developing anew in the unremoved part of the colon subsequent to surgery, rather than a return or <a href="/wiki/Metastasis" title="Metastasis">metastasis</a> of any cancer removed by the original surgery. </p><p>Desmoid tumors, with their infiltrative nature and potential proximity to vital structures, are the second highest cause of death.<sup id="cite_ref-12" class="reference"><a href="#cite_note-12"><span class="cite-bracket">[</span>12<span class="cite-bracket">]</span></a></sup> </p> <div class="mw-heading mw-heading2"><h2 id="Epidemiology">Epidemiology</h2><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Familial_adenomatous_polyposis&action=edit&section=12" title="Edit section: Epidemiology"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <p>The incidence of the mutation is between 1 in 10,000 and 1 in 15,000 births. By age 35 years, 95% of individuals with FAP (>100 adenomas) have polyps. Without colectomy, colon cancer is virtually inevitable. The mean age of colon cancer in untreated individuals is 39 years (range 34–43 years).<sup id="cite_ref-13" class="reference"><a href="#cite_note-13"><span class="cite-bracket">[</span>13<span class="cite-bracket">]</span></a></sup> </p><p>Attenuated FAP arises when APC is defective but still somewhat functional. As a result, it retains part of its ability to suppress polyps. Therefore, attenuated FAP manifests as colorectal cancer unusually late (age 40–70, average=55<sup id="cite_ref-:0_3-1" class="reference"><a href="#cite_note-:0-3"><span class="cite-bracket">[</span>3<span class="cite-bracket">]</span></a></sup>), and typically with few, or at least far fewer polyps (typically 30<sup id="cite_ref-NBK1345_2-5" class="reference"><a href="#cite_note-NBK1345-2"><span class="cite-bracket">[</span>2<span class="cite-bracket">]</span></a></sup>), than the more usual version of FAP, at an age when FAP is no longer considered much of a likelihood or risk according to usual FAP epidemiology. </p> <div class="mw-heading mw-heading3"><h3 id="Comparison_of_FAP_variants">Comparison of FAP variants</h3><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Familial_adenomatous_polyposis&action=edit&section=13" title="Edit section: Comparison of FAP variants"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <p>This table compares the different subtypes of FAP:<sup id="cite_ref-NBK1345_2-6" class="reference"><a href="#cite_note-NBK1345-2"><span class="cite-bracket">[</span>2<span class="cite-bracket">]</span></a></sup><sup id="cite_ref-Soravia98_1-6" class="reference"><a href="#cite_note-Soravia98-1"><span class="cite-bracket">[</span>1<span class="cite-bracket">]</span></a></sup> </p> <table class="wikitable"> <tbody><tr> <td width="10%"><b>Item</b> </td> <td width="40%"><b>FAP</b> </td> <td width="30%"><b>Attenuated FAP</b> </td> <td width="20%"><b>MUTYH Associated FAP</b> </td></tr> <tr> <td>Gene</td> <td>APC</td> <td>APC</td> <td>MUTYH </td></tr> <tr> <td>Typical polyp manifestation</td> <td>Hundreds / thousands</td> <td>Under 100 (0–470, typ. 30), sometimes flat rather than polypoid morphology, and more proximal to the splenic flexure. In a study of 120 individuals 37% (N=44) had <10 polyps; 3 of these 44 had colorectal cancer.<sup id="cite_ref-14" class="reference"><a href="#cite_note-14"><span class="cite-bracket">[</span>14<span class="cite-bracket">]</span></a></sup> Gastric fundic polyps and duodenal adenomas are also seen. Therefore, polyps and cancers may manifest in the <i>upper</i> portion of the colon or <i>upper</i> gastrointestinal tract rather than the usual locations.</td> <td>? </td></tr> <tr> <td>Typical core diagnostic criteria</td> <td>(a) 100+ polyps and age under 40, OR (b) polyps and FAP in a relative</td> <td>Not settled as yet. (a) no family history of 100+ polyps before age 30 PLUS ONE OF 10–99 polyps / 100+ polyps and aged over 35 to 40 / colorectal cancer before age 60 and relatives with multiple adenomatous polyps, OR (b) Family history of 10 to 99 adenomas diagnosed after age 30 years</td> <td>? </td></tr> <tr> <td>Age at which polyps manifest</td> <td>7–36 (typ. 16), rapidly increasing thereafter</td> <td>?</td> <td>? </td></tr> <tr> <td>Colorectal cancer risk (<a href="/wiki/Penetrance" title="Penetrance">penetrance</a>) and age if untreated</td> <td>"inevitable.. virtually 100%": 7% by age 21, 87% by age 45, 93% by age 50. Typical ages: 34–43 (avg.39)</td> <td>"Lower.. less well known.. estimated 70% by age 80". Sovaria states as at 1998, "average age at CRC diagnosis is ~58 years"</td> <td>? </td></tr> <tr> <td>Variability</td> <td>Inter- and intrafamilial phenotypic variability are common</td> <td>See FAP</td> <td>? </td></tr> <tr> <td>Possible non-colon manifestations</td> <td>"polyps of the gastric fundus and duodenum, osteomas, dental anomalies, congenital hypertrophy of the retinal pigment epithelium (CHRPE), soft tissue tumors, desmoid tumors, and associated cancers"</td> <td>As for FAP but "CHRPE and desmoid tumors are rare" and also thyroid cancer is added.</td> <td>? </td></tr> <tr> <td>Other lifetime risks</td> <td>"Small bowel [duodenum or periampulla] carcinoma 4–12% [distal to duodenum] Rare; Pancreas Adenocarcinoma ~1%; Papillary thyroid carcinoma 1–2%; CNS [typ. medulloblastoma] <1%; Liver hepatoblastoma 1.6%; Bile ducts adenocarcinoma Low but increased; Stomach adenocarcinoma <1% in Western cultures."</td> <td>?</td> <td>? </td></tr> <tr> <td>Inheritance</td> <td>"inherited in an autosomal dominant manner. Approximately 75%-80% of individuals with APC-associated polyposis conditions have an affected parent. Offspring of an affected individual are at a 50% risk of inheriting the disease-causing mutation"</td> <td>Same as FAP</td> <td>Different—recessive (requires 2 parents to be carriers) </td></tr> <tr> <td>Genetic overview and genetic detection</td> <td>"Full gene sequencing of all APC exons and intron-exon boundaries appears to be the most accurate clinical test available. Most APC mutations are nonsense or frameshift mutations that cause premature truncation of the APC protein.. The likelihood of detecting an APC mutation is highly dependent on the severity of colonic polyposis and on the family history.. ◦Approximately 20% of individuals with an apparent de novo APC mutation.. The markers used for linkage analysis of APC-associated polyposis conditions are highly informative and very tightly linked to the APC locus; thus, they can be used with greater than 98% accuracy in more than 95% of families with an APC-associated polyposis condition. Linkage testing is not possible for families with a single affected individual, a situation that often occurs when an individual has a de novo gene mutation and no affected offspring.. If no disease causing APC mutation is found, molecular genetic testing of MUTYH (see Differential Diagnosis) should be considered."</td> <td>"Fewer than 30% of individuals with attenuated phenotypes are expected to have an identifiable APC mutation" <i>(see also details under FAP)</i></td> <td>? </td></tr> <tr> <td>Genotype-Phenotype [Core condition]</td> <td>Most frequent APC mutation is at codon 1309 and lead to a high number of polyps at an early age (~20). Profuse polyposis (avg=5000) reported with mutations in codons 1250–1464. Most partial and whole APC deletions are associated with 100–2000 colonic adenomas, although attenuated FAP has been seen. Sample typical onset ages: between codon 168 and 1580 (excluding 1309) = 30 years, 5' of codon 168 and 3' of codon 1580 = 52 years.</td> <td>Attenuated FAP is associated with mutations (typically truncating) in the 5' part of the gene (codons 1–177), exon 9, and the distal 3' end of the gene; interstitial deletions of chromosome 5q22 that include APC; partial and whole-gene deletions; and somatic mosaicism for APC mutations that are generally associated with classic FAP. Sovaria states attenuated FAP is "caused by mutations in three distinct regions of the APC gene—the 5<span class="nowrap" style="padding-left:0.15em;">′</span> end in the region spanning exons 4 and 5, exon 9, and the extreme 3<span class="nowrap" style="padding-left:0.15em;">′</span> end. Phenotypic expression in these three groups of kindreds is variable but is definitely milder than that in classical FAP" and that rectal polyps are rare in attenuated FAP but not yet confirmed whether this also means rectal cancer risk is lower as well.</td> <td>? </td></tr> <tr> <td>Genotype–Phenotype [Other extra-colonic conditions]</td> <td>Prominent extracolonic manifestations often correlate (though not completely) with more distal APC mutations. <b>General study of FAP plus extracolonic symptoms showed</b>: mutations in codons 1395–1493 has significantly higher rates of desmoid tumors, osteomas, and epidermoid cysts than those with mutations in codons 177–452; mutations in codons 1395–1493 have significantly higher rates of desmoid tumors and osteomas than those with mutations in codons 457–1309; no individuals with mutations in codons 177–452 developed osteomas or periampullary cancers; only individuals with mutations in codons 457–1309 developed hepatoblastoma and/or brain tumors. <b>Duodenal adenomas</b>: Fourfold increased risk with mutations between codons 976 and 1067. <b>Desmoid tumors</b>: mutations 3' to codon 1399 were associated with desmoid tumor development with an odds ratio of 4.37; desmoid tumors in 20% of individuals with mutations 5' to codon 1444, 49% of individuals with mutations 3' to codon 1444, and 61% of individuals with mutations in codons 1445–1580; several families with severe desmoid tumors had mutations at the extreme 3' end; consistent association of desmoid tumors with mutations distal to codon 1444. <b>CHRPE</b> is associated with: mutations between codons 311 and 1444; whole APC gene deletions. <b>Thyroid cancer and FAP</b>: In 24 individuals, the majority of mutations identified were 5' to codon 1220 [Cetta et al. 2000]; 9 of 12 individuals had APC mutations identified proximal to the mutation cluster region (codons 1286–1513). <b>General review of the literature (to August 2006)</b>: revealed 89 submicroscopic APC deletions (42 partial and 47 whole-gene deletions). Extracolonic findings were seen in 36% of cases, with no significant differences in those with partial vs. whole-gene deletions.</td> <td>?</td> <td>? </td></tr> <tr> <td>Prevalence</td> <td>"2.29 to 3.2 per 100,000 individuals.. APC-associated polyposis conditions historically accounted for about 0.5% of all colorectal cancers; this figure is declining as more at-risk family members undergo successful treatment following early polyp detection and prophylactic colectomy."</td> <td>"Likely underdiagnosed, given the lower number of colonic polyps and lower risk for colorectal cancer compared to classic FAP"</td> <td>? </td></tr> <tr> <td>Treatment of manifestations</td> <td>Classic FAP: "Colectomy is recommended after adenomas emerge; colectomy may be delayed depending on the size and number of adenomatous polyps. Colectomy is usually advised when more than 20 or 30 adenomas or multiple adenomas with advanced histology have developed"</td> <td>"Colectomy may be necessary, but in approximately one third of individuals the colonic polyps are limited enough in number that surveillance with periodic colonoscopic polypectomy is sufficient"</td> <td>? </td></tr> <tr> <td>Surveillance (monitoring) activities once risk is established</td> <td>"Sigmoidoscopy or colonoscopy every 1–2 years, beginning at age ten to 12 years; colonoscopy, once polyps are detected; annual colonoscopy, if colectomy is delayed more than a year after polyps emerge (Age ten to 20 years with certain milder symptoms, delay in colectomy may be considered); Esophagogastroduodenoscopy (EGD) by age 25 years or prior to colectomy and repeated every 1–3 years; in some cases, endoscopic retrograde cholangiopancreatography (ERCP) to evaluate for adenomas of the common bile duct; small-bowel imaging when duodenal adenomas are detected or prior to colectomy, repeated every 1–3 years depending on findings; screening for hepatoblastoma (optimal interval unknown, one paper recommends "at least every three months"); annual physical examination, including evaluation for extraintestinal manifestations, and palpation of the thyroid with consideration of follow-up ultrasound examination and fine-needle aspiration if thyroid nodules are present"</td> <td>"Colonoscopy every two to three years, beginning at age 18 to 20 years; esophagogastroduodenoscopy (EGD) beginning by age 25 years or prior to colectomy and repeated every 1–3 years; in some cases, endoscopic retrograde cholangiopancreatography (ERCP) may be necessary to evaluate for adenomas of the common bile duct; annual physical examination with palpation of the thyroid with consideration of follow-up ultrasound examination and fine-needle aspiration if thyroid nodules are present. Colectomy usually advised when more than 20 or 30 adenomas or multiple adenomas with advanced histology have developed." Sovaria states as at 1998 that "colonoscopy, as opposed to sigmoidoscopy, should be advised for endoscopic surveillance, because of the right-side location of colorectal adenomas; UGI endoscopic surveillance is warranted in an attempt to detect premalignant gastric or duodenal tumors; individuals affected with [attenuated FAP] may require total colectomy with ileo-rectal anastomosis only when prophylactic colectomy is advised"</td> <td>? </td></tr> <tr> <td>Decision to monitor</td> <td>"Early recognition may allow for timely intervention and improved final outcome; thus, surveillance of asymptomatic, at-risk children for early manifestations is appropriate; genetic testing is more cost effective than sigmoidoscopy in determining who in the family is affected; individuals diagnosed with APC-associated polyposis conditions as a result of having an affected relative have a significantly greater life expectancy than those individuals diagnosed on the basis of symptoms.. As colon monitoring for those at risk for classic FAP begins as early as age ten to 12 years, molecular genetic testing is generally offered to children at risk for classic FAP by age ten years. Genetic testing at birth may also be warranted, as some parents and pediatricians may consider hepatoblastoma screening from infancy to age five years in affected offspring.. No evidence points to an optimal age at which to begin screening."</td> <td>See FAP. Also "Colon screening for those with attenuated FAP begins at age 18 to 20 years; thus, molecular genetic testing should be offered to those at risk for attenuated FAP at approximately age 18 years."</td> <td>? </td></tr> <tr> <td>Inheritance and implications of confirmed diagnosis for other close relatives</td> <td>APC-associated polyposis conditions are inherited in an autosomal dominant manner. Approximately 20–25% have the altered gene as the result of a de novo gene mutation. Little or no evidence of maternal/paternal bias, or effect related to advanced paternal age, in <i>de novo</i> mutations. Siblings have classic 50% risk of sharing the condition if inherited and not <i>de novo</i> and a "low" but slightly higher risk than general if <i>de novo</i>, therefore genetic testing should be offered. Offspring each have a 50% chance of inheritance. Other family members are at risk if their parents share the same mutation. <a href="/wiki/Germline_mosaicism" title="Germline mosaicism">Germline mosaicism</a> has been documented in asymptomatic cases. Prenatal testing is possible via fetal extracted <a href="/wiki/DNA" title="DNA">DNA</a>.</td> <td>See FAP</td> <td>? </td></tr></tbody></table> <div class="mw-heading mw-heading2"><h2 id="Polyposis_registries">Polyposis registries</h2><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Familial_adenomatous_polyposis&action=edit&section=14" title="Edit section: Polyposis registries"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <p>Because of the genetic nature of FAP, polyposis registries have been developed around the world. The purpose of these registries is to increase knowledge about the transmissibility of FAP, but also to document, track, and notify family members of affected individuals. One study has shown that the use of a registry to notify family members (call-ups) significantly reduced mortality when compared with <a href="/wiki/Proband" title="Proband">probands</a>.<sup id="cite_ref-15" class="reference"><a href="#cite_note-15"><span class="cite-bracket">[</span>15<span class="cite-bracket">]</span></a></sup> The <a rel="nofollow" class="external text" href="https://web.archive.org/web/20070827021351/http://www.polyposisregistry.org.uk/index.htm">St. Mark's polyposis registry</a> is the oldest in the world, started in 1924, and many other <a href="/wiki/Polyposis_registries" title="Polyposis registries">polyposis registries</a> now exist. </p> <div class="mw-heading mw-heading2"><h2 id="See_also">See also</h2><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Familial_adenomatous_polyposis&action=edit&section=15" title="Edit section: See also"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <ul><li><a href="/wiki/Colorectal_cancer" title="Colorectal cancer">Colorectal cancer</a></li> <li><a href="/wiki/Polyp_(medicine)" title="Polyp (medicine)">Polyp (medicine)</a></li> <li><a href="/wiki/Adenoma" title="Adenoma">Adenoma</a></li> <li><a href="/wiki/Adenomatous_polyps" class="mw-redirect" title="Adenomatous polyps">Adenomatous polyps</a></li> <li><a href="/wiki/Colorectal_polyp" title="Colorectal polyp">Colorectal polyp</a></li> <li><a href="/wiki/Genetic_testing" title="Genetic testing">Genetic testing</a></li></ul> <div class="mw-heading mw-heading2"><h2 id="References">References</h2><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Familial_adenomatous_polyposis&action=edit&section=16" title="Edit section: References"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <style data-mw-deduplicate="TemplateStyles:r1239543626">.mw-parser-output .reflist{margin-bottom:0.5em;list-style-type:decimal}@media screen{.mw-parser-output .reflist{font-size:90%}}.mw-parser-output .reflist .references{font-size:100%;margin-bottom:0;list-style-type:inherit}.mw-parser-output .reflist-columns-2{column-width:30em}.mw-parser-output .reflist-columns-3{column-width:25em}.mw-parser-output .reflist-columns{margin-top:0.3em}.mw-parser-output .reflist-columns ol{margin-top:0}.mw-parser-output .reflist-columns li{page-break-inside:avoid;break-inside:avoid-column}.mw-parser-output .reflist-upper-alpha{list-style-type:upper-alpha}.mw-parser-output .reflist-upper-roman{list-style-type:upper-roman}.mw-parser-output .reflist-lower-alpha{list-style-type:lower-alpha}.mw-parser-output .reflist-lower-greek{list-style-type:lower-greek}.mw-parser-output .reflist-lower-roman{list-style-type:lower-roman}</style><div class="reflist"> <div class="mw-references-wrap mw-references-columns"><ol class="references"> <li id="cite_note-Soravia98-1"><span class="mw-cite-backlink">^ <a href="#cite_ref-Soravia98_1-0"><sup><i><b>a</b></i></sup></a> <a href="#cite_ref-Soravia98_1-1"><sup><i><b>b</b></i></sup></a> <a href="#cite_ref-Soravia98_1-2"><sup><i><b>c</b></i></sup></a> <a href="#cite_ref-Soravia98_1-3"><sup><i><b>d</b></i></sup></a> <a href="#cite_ref-Soravia98_1-4"><sup><i><b>e</b></i></sup></a> <a href="#cite_ref-Soravia98_1-5"><sup><i><b>f</b></i></sup></a> <a href="#cite_ref-Soravia98_1-6"><sup><i><b>g</b></i></sup></a></span> <span class="reference-text"><style data-mw-deduplicate="TemplateStyles:r1238218222">.mw-parser-output cite.citation{font-style:inherit;word-wrap:break-word}.mw-parser-output .citation q{quotes:"\"""\"""'""'"}.mw-parser-output .citation:target{background-color:rgba(0,127,255,0.133)}.mw-parser-output .id-lock-free.id-lock-free a{background:url("//upload.wikimedia.org/wikipedia/commons/6/65/Lock-green.svg")right 0.1em center/9px no-repeat}.mw-parser-output .id-lock-limited.id-lock-limited a,.mw-parser-output .id-lock-registration.id-lock-registration a{background:url("//upload.wikimedia.org/wikipedia/commons/d/d6/Lock-gray-alt-2.svg")right 0.1em center/9px no-repeat}.mw-parser-output .id-lock-subscription.id-lock-subscription a{background:url("//upload.wikimedia.org/wikipedia/commons/a/aa/Lock-red-alt-2.svg")right 0.1em center/9px no-repeat}.mw-parser-output .cs1-ws-icon a{background:url("//upload.wikimedia.org/wikipedia/commons/4/4c/Wikisource-logo.svg")right 0.1em center/12px no-repeat}body:not(.skin-timeless):not(.skin-minerva) .mw-parser-output .id-lock-free a,body:not(.skin-timeless):not(.skin-minerva) .mw-parser-output .id-lock-limited a,body:not(.skin-timeless):not(.skin-minerva) .mw-parser-output .id-lock-registration a,body:not(.skin-timeless):not(.skin-minerva) .mw-parser-output .id-lock-subscription a,body:not(.skin-timeless):not(.skin-minerva) .mw-parser-output .cs1-ws-icon a{background-size:contain;padding:0 1em 0 0}.mw-parser-output .cs1-code{color:inherit;background:inherit;border:none;padding:inherit}.mw-parser-output .cs1-hidden-error{display:none;color:var(--color-error,#d33)}.mw-parser-output .cs1-visible-error{color:var(--color-error,#d33)}.mw-parser-output .cs1-maint{display:none;color:#085;margin-left:0.3em}.mw-parser-output .cs1-kern-left{padding-left:0.2em}.mw-parser-output .cs1-kern-right{padding-right:0.2em}.mw-parser-output .citation .mw-selflink{font-weight:inherit}@media screen{.mw-parser-output .cs1-format{font-size:95%}html.skin-theme-clientpref-night .mw-parser-output .cs1-maint{color:#18911f}}@media screen and (prefers-color-scheme:dark){html.skin-theme-clientpref-os .mw-parser-output .cs1-maint{color:#18911f}}</style><cite id="CITEREFSoraviaBerkMadlenskyMitri1998" class="citation journal cs1">Soravia, C.; Berk, T.; Madlensky, L.; Mitri, A.; Cheng, H.; Gallinger, S.; Cohen, Z.; Bapat, B. 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Retrieved <span class="nowrap">22 July</span> 2021</span>.</cite><span title="ctx_ver=Z39.88-2004&rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Ajournal&rft.genre=unknown&rft.jtitle=The+Lecturio+Medical+Concept+Library&rft.atitle=Familial+Adenomatous+Polyposis&rft_id=https%3A%2F%2Fwww.lecturio.com%2Fconcepts%2Ffamilial-adenomatous-polyposis%2F&rfr_id=info%3Asid%2Fen.wikipedia.org%3AFamilial+adenomatous+polyposis" class="Z3988"></span></span> </li> <li id="cite_note-14"><span class="mw-cite-backlink"><b><a href="#cite_ref-14">^</a></b></span> <span class="reference-text"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1238218222"><cite id="CITEREFNeklasonStevensBoucherKerber2008" class="citation journal cs1">Neklason, Deborah W.; Stevens, Jeffery; Boucher, Kenneth M.; Kerber, Richard A.; Matsunami, Nori; Barlow, Jahn; Mineau, Geraldine; Leppert, Mark F.; Burt, Randall W. (January 2008). <a rel="nofollow" class="external text" href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2245898">"American Founder Mutation for Attenuated Familial Adenomatous Polyposis"</a>. <i>Clinical Gastroenterology and Hepatology</i>. <b>6</b> (1): <span class="nowrap">46–</span>52. <a href="/wiki/Doi_(identifier)" class="mw-redirect" title="Doi (identifier)">doi</a>:<a rel="nofollow" class="external text" href="https://doi.org/10.1016%2Fj.cgh.2007.09.017">10.1016/j.cgh.2007.09.017</a>. <a href="/wiki/PMC_(identifier)" class="mw-redirect" title="PMC (identifier)">PMC</a> <span class="id-lock-free" title="Freely accessible"><a rel="nofollow" class="external text" href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2245898">2245898</a></span>. <a href="/wiki/PMID_(identifier)" class="mw-redirect" title="PMID (identifier)">PMID</a> <a rel="nofollow" class="external text" href="https://pubmed.ncbi.nlm.nih.gov/18063416">18063416</a>.</cite><span title="ctx_ver=Z39.88-2004&rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Ajournal&rft.genre=article&rft.jtitle=Clinical+Gastroenterology+and+Hepatology&rft.atitle=American+Founder+Mutation+for+Attenuated+Familial+Adenomatous+Polyposis&rft.volume=6&rft.issue=1&rft.pages=%3Cspan+class%3D%22nowrap%22%3E46-%3C%2Fspan%3E52&rft.date=2008-01&rft_id=https%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fpmc%2Farticles%2FPMC2245898%23id-name%3DPMC&rft_id=info%3Apmid%2F18063416&rft_id=info%3Adoi%2F10.1016%2Fj.cgh.2007.09.017&rft.aulast=Neklason&rft.aufirst=Deborah+W.&rft.au=Stevens%2C+Jeffery&rft.au=Boucher%2C+Kenneth+M.&rft.au=Kerber%2C+Richard+A.&rft.au=Matsunami%2C+Nori&rft.au=Barlow%2C+Jahn&rft.au=Mineau%2C+Geraldine&rft.au=Leppert%2C+Mark+F.&rft.au=Burt%2C+Randall+W.&rft_id=https%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fpmc%2Farticles%2FPMC2245898&rfr_id=info%3Asid%2Fen.wikipedia.org%3AFamilial+adenomatous+polyposis" class="Z3988"></span></span> </li> <li id="cite_note-15"><span class="mw-cite-backlink"><b><a href="#cite_ref-15">^</a></b></span> <span class="reference-text"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1238218222"><cite id="CITEREFReyes_MorenoGinard_VicensVanrell2007" class="citation journal cs1 cs1-prop-foreign-lang-source">Reyes Moreno J, Ginard Vicens D, Vanrell M, et al. (2007). "[Impact of a registry on the survival familial adenomatous polyposis.]". <i>Medicina Clínica</i> (in Spanish). <b>129</b> (2): <span class="nowrap">51–</span>2. <a href="/wiki/Doi_(identifier)" class="mw-redirect" title="Doi (identifier)">doi</a>:<a rel="nofollow" class="external text" href="https://doi.org/10.1157%2F13106937">10.1157/13106937</a>. <a href="/wiki/PMID_(identifier)" class="mw-redirect" title="PMID (identifier)">PMID</a> <a rel="nofollow" class="external text" href="https://pubmed.ncbi.nlm.nih.gov/17588361">17588361</a>.</cite><span title="ctx_ver=Z39.88-2004&rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Ajournal&rft.genre=article&rft.jtitle=Medicina+Cl%C3%ADnica&rft.atitle=%5BImpact+of+a+registry+on+the+survival+familial+adenomatous+polyposis.%5D&rft.volume=129&rft.issue=2&rft.pages=%3Cspan+class%3D%22nowrap%22%3E51-%3C%2Fspan%3E2&rft.date=2007&rft_id=info%3Adoi%2F10.1157%2F13106937&rft_id=info%3Apmid%2F17588361&rft.aulast=Reyes+Moreno&rft.aufirst=J&rft.au=Ginard+Vicens%2C+D&rft.au=Vanrell%2C+M&rfr_id=info%3Asid%2Fen.wikipedia.org%3AFamilial+adenomatous+polyposis" class="Z3988"></span></span> </li> </ol></div></div> <div class="mw-heading mw-heading2"><h2 id="Further_reading">Further reading</h2><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Familial_adenomatous_polyposis&action=edit&section=17" title="Edit section: Further reading"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <ul><li><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1238218222"><cite id="CITEREFGeneReviews_NBK1345" class="citation book cs1">Jasperson, Kory W.; Patel, Swati G.; Ahnen, Dennis J. (2 February 2017). <a rel="nofollow" class="external text" href="https://www.ncbi.nlm.nih.gov/books/NBK1345/">"APC-Associated Polyposis Conditions"</a>. In Adam MP; Ardinger HH; Pagon RA; Wallace SE (eds.). <i>GeneReviews</i>. Seattle WA: University of Washington. <a href="/wiki/PMID_(identifier)" class="mw-redirect" title="PMID (identifier)">PMID</a> <a rel="nofollow" class="external text" href="https://pubmed.ncbi.nlm.nih.gov/20301519">20301519</a>. NBK1345.</cite><span title="ctx_ver=Z39.88-2004&rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Abook&rft.genre=bookitem&rft.atitle=APC-Associated+Polyposis+Conditions&rft.btitle=GeneReviews&rft.place=Seattle+WA&rft.pub=University+of+Washington&rft.date=2017-02-02&rft_id=info%3Apmid%2F20301519&rft.aulast=Jasperson&rft.aufirst=Kory+W.&rft.au=Patel%2C+Swati+G.&rft.au=Ahnen%2C+Dennis+J.&rft_id=https%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fbooks%2FNBK1345%2F&rfr_id=info%3Asid%2Fen.wikipedia.org%3AFamilial+adenomatous+polyposis" class="Z3988"></span> — full clinical summary of FAP and attenuated FAP, including lifetime risks, epidemiology etc.</li> <li><i><a rel="nofollow" class="external text" href="https://ghr.nlm.nih.gov/condition=familialadenomatouspolyposis">Familial adenomatous polyposis</a></i> at <a href="/wiki/U.S._National_Library_of_Medicine" class="mw-redirect" title="U.S. National Library of Medicine">NLM</a> Genetics Home Reference</li> <li><a rel="nofollow" class="external text" href="http://emedicine.medscape.com/article/175377-overview">Familial Adenomatous Polyposis</a>—<a href="/wiki/EMedicine" title="EMedicine">eMedicine Gastroenterology</a></li> <li><a rel="nofollow" class="external text" href="http://www.emedicine.com/radio/topic567.htm">Colon, Polyposis Syndromes</a></li> <li><a rel="nofollow" class="external text" href="https://www.cancer.gov/cancertopics/pdq/genetics/colorectal/healthprofessional/">National Cancer Institute: Genetics of Colorectal Cancer information summary</a></li></ul> <div class="mw-heading mw-heading2"><h2 id="External_links">External links</h2><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Familial_adenomatous_polyposis&action=edit&section=18" title="Edit section: External links"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <div class="navbox-styles"><style data-mw-deduplicate="TemplateStyles:r1236075235">.mw-parser-output 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dt:last-child::after,.mw-parser-output .hlist li li:last-child::after{content:")";font-weight:normal}.mw-parser-output .hlist ol{counter-reset:listitem}.mw-parser-output .hlist ol>li{counter-increment:listitem}.mw-parser-output .hlist ol>li::before{content:" "counter(listitem)"\a0 "}.mw-parser-output .hlist dd ol>li:first-child::before,.mw-parser-output .hlist dt ol>li:first-child::before,.mw-parser-output .hlist li ol>li:first-child::before{content:" ("counter(listitem)"\a0 "}</style><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1129693374"></div><div role="navigation" class="navbox" aria-label="Navbox32" style="width:100%; margin:0.5em 0 0.5em 0;;padding:3px"><table class="nowraplinks navbox-inner" style="border-spacing:0;background:transparent;color:inherit"><tbody><tr><th scope="row" class="navbox-group" style="width:1%;background: #EAECF0;color:black;">Classification</th><td class="navbox-list-with-group navbox-list navbox-odd" style="width:100%;padding:0"><div style="padding:0 0.25em"><div style="position:relative; float:right; font-size:0.8em;"><a href="https://www.wikidata.org/wiki/Q1369011" class="extiw" title="d:Q1369011">D</a></div><div class="hlist" style="text-align:left;"><ul><li><b><a href="/wiki/International_Statistical_Classification_of_Diseases_and_Related_Health_Problems" class="mw-redirect" title="International Statistical Classification of Diseases and Related Health Problems">ICD</a>-<a href="/wiki/ICD-10" title="ICD-10">10</a></b>: <a rel="nofollow" class="external text" href="https://icd.who.int/browse10/2019/en#/C18">C18</a>, <a rel="nofollow" class="external text" href="https://icd.who.int/browse10/2019/en#/D12">D12</a></li><li><b><a href="/wiki/International_Statistical_Classification_of_Diseases_and_Related_Health_Problems" class="mw-redirect" title="International Statistical Classification of Diseases and Related Health Problems">ICD</a>-<a href="/wiki/List_of_ICD-9_codes" title="List of ICD-9 codes">9-CM</a></b>: <a rel="nofollow" class="external text" href="http://www.icd9data.com/getICD9Code.ashx?icd9=211.3">211.3</a></li><li><b><a href="/wiki/International_Classification_of_Diseases_for_Oncology" title="International Classification of Diseases for Oncology">ICD-O</a></b>: 8220/0</li><li><b><a href="/wiki/Online_Mendelian_Inheritance_in_Man" title="Online Mendelian Inheritance in Man">OMIM</a></b>: <a rel="nofollow" class="external text" href="https://omim.org/entry/175100">175100</a></li><li><b><a href="/wiki/Medical_Subject_Headings" title="Medical Subject Headings">MeSH</a></b>: <a rel="nofollow" class="external text" href="https://meshb.nlm.nih.gov/record/ui?ui=D011125">D011125</a></li><li><b><a href="/wiki/Diseases_Database" title="Diseases Database">DiseasesDB</a></b>: <a rel="nofollow" class="external text" href="http://www.diseasesdatabase.com/ddb4678.htm">4678</a></li></ul></div></div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%;background: #EAECF0;color:black;">External resources</th><td class="navbox-list-with-group navbox-list navbox-even" style="width:100%;padding:0"><div style="padding:0 0.25em"><div class="hlist" style="text-align:left;"><ul><li><b><a href="/wiki/EMedicine" title="EMedicine">eMedicine</a></b>: <a rel="nofollow" class="external text" href="https://emedicine.medscape.com/med/769-overview">med/769</a></li><li><b><a href="/wiki/Orphanet" title="Orphanet">Orphanet</a></b>: <a rel="nofollow" class="external text" href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=733">733</a></li></ul></div></div></td></tr></tbody></table></div> <div class="navbox-styles"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1129693374"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1236075235"></div><div role="navigation" class="navbox" aria-labelledby="Glandular_and_epithelial_cancer59" style="padding:3px"><table class="nowraplinks hlist mw-collapsible expanded navbox-inner" style="border-spacing:0;background:transparent;color:inherit"><tbody><tr><th scope="col" class="navbox-title" colspan="2"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1129693374"><style data-mw-deduplicate="TemplateStyles:r1239400231">.mw-parser-output .navbar{display:inline;font-size:88%;font-weight:normal}.mw-parser-output .navbar-collapse{float:left;text-align:left}.mw-parser-output .navbar-boxtext{word-spacing:0}.mw-parser-output .navbar ul{display:inline-block;white-space:nowrap;line-height:inherit}.mw-parser-output .navbar-brackets::before{margin-right:-0.125em;content:"[ "}.mw-parser-output .navbar-brackets::after{margin-left:-0.125em;content:" ]"}.mw-parser-output .navbar li{word-spacing:-0.125em}.mw-parser-output .navbar a>span,.mw-parser-output .navbar a>abbr{text-decoration:inherit}.mw-parser-output .navbar-mini abbr{font-variant:small-caps;border-bottom:none;text-decoration:none;cursor:inherit}.mw-parser-output .navbar-ct-full{font-size:114%;margin:0 7em}.mw-parser-output .navbar-ct-mini{font-size:114%;margin:0 4em}html.skin-theme-clientpref-night .mw-parser-output .navbar li a abbr{color:var(--color-base)!important}@media(prefers-color-scheme:dark){html.skin-theme-clientpref-os .mw-parser-output .navbar li a abbr{color:var(--color-base)!important}}@media print{.mw-parser-output .navbar{display:none!important}}</style><div class="navbar plainlinks hlist navbar-mini"><ul><li class="nv-view"><a href="/wiki/Template:Epithelial_neoplasms" title="Template:Epithelial neoplasms"><abbr title="View this template">v</abbr></a></li><li class="nv-talk"><a href="/wiki/Template_talk:Epithelial_neoplasms" title="Template talk:Epithelial neoplasms"><abbr title="Discuss this template">t</abbr></a></li><li class="nv-edit"><a href="/wiki/Special:EditPage/Template:Epithelial_neoplasms" title="Special:EditPage/Template:Epithelial neoplasms"><abbr title="Edit this template">e</abbr></a></li></ul></div><div id="Glandular_and_epithelial_cancer59" style="font-size:114%;margin:0 4em">Glandular and epithelial <a href="/wiki/Cancer" title="Cancer">cancer</a></div></th></tr><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Epithelium" title="Epithelium">Epithelium</a></th><td class="navbox-list-with-group navbox-list navbox-odd" style="width:100%;padding:0"><div style="padding:0 0.25em"></div><table class="nowraplinks navbox-subgroup" style="border-spacing:0"><tbody><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Papilloma" title="Papilloma">Papilloma</a>/<a href="/wiki/Carcinoma" title="Carcinoma">carcinoma</a></th><td class="navbox-list-with-group navbox-list navbox-odd" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/Small-cell_carcinoma" title="Small-cell carcinoma">Small-cell carcinoma</a></li> <li><a href="/wiki/Combined_small-cell_lung_carcinoma" title="Combined small-cell lung carcinoma">Combined small-cell lung carcinoma</a></li> <li><a href="/wiki/Verrucous_carcinoma" title="Verrucous carcinoma">Verrucous carcinoma</a></li> <li><a href="/wiki/Squamous-cell_carcinoma" title="Squamous-cell carcinoma">Squamous-cell carcinoma</a></li> <li><a href="/wiki/Basal-cell_carcinoma" title="Basal-cell carcinoma">Basal-cell carcinoma</a></li> <li><a href="/wiki/Transitional_cell_carcinoma" title="Transitional cell carcinoma">Transitional cell carcinoma</a></li> <li><a href="/wiki/Inverted_papilloma" title="Inverted papilloma">Inverted papilloma</a></li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Mixed_tumor" title="Mixed tumor">Complex epithelial</a></th><td class="navbox-list-with-group navbox-list navbox-even" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/Warthin%27s_tumor" title="Warthin's tumor">Warthin's tumor</a></li> <li><a href="/wiki/Thymoma" title="Thymoma">Thymoma</a></li> <li><a href="/wiki/Bartholin_gland_carcinoma" title="Bartholin gland carcinoma">Bartholin gland carcinoma</a></li></ul> </div></td></tr></tbody></table><div></div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Gland" title="Gland">Glands</a></th><td class="navbox-list-with-group navbox-list navbox-odd" style="width:100%;padding:0"><div style="padding:0 0.25em"></div><table class="nowraplinks navbox-subgroup" style="border-spacing:0"><tbody><tr><th id="Adenomas/adenocarcinomas166" scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Adenoma" title="Adenoma">Adenomas</a>/<br /><a href="/wiki/Adenocarcinoma" title="Adenocarcinoma">adenocarcinomas</a></th><td class="navbox-list-with-group navbox-list navbox-odd" style="width:100%;padding:0"><div style="padding:0 0.25em"></div><table class="nowraplinks navbox-subgroup" style="border-spacing:0"><tbody><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Digestive_system_neoplasm" title="Digestive system neoplasm">Gastrointestinal</a></th><td class="navbox-list-with-group navbox-list navbox-odd" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><i>tract:</i> <a href="/wiki/Linitis_plastica" title="Linitis plastica">Linitis plastica</a></li> <li><a class="mw-selflink selflink">Familial adenomatous polyposis</a></li></ul> <ul><li><i>pancreas</i> <ul><li><a href="/wiki/Insulinoma" title="Insulinoma">Insulinoma</a></li> <li><a href="/wiki/Glucagonoma" title="Glucagonoma">Glucagonoma</a></li> <li><a href="/wiki/Gastrinoma" title="Gastrinoma">Gastrinoma</a></li> <li><a href="/wiki/VIPoma" title="VIPoma">VIPoma</a></li> <li><a href="/wiki/Somatostatinoma" title="Somatostatinoma">Somatostatinoma</a></li></ul></li></ul> <ul><li><a href="/wiki/Cholangiocarcinoma" title="Cholangiocarcinoma">Cholangiocarcinoma</a></li> <li><a href="/wiki/Klatskin_tumor" title="Klatskin tumor">Klatskin tumor</a></li> <li><a href="/wiki/Hepatocellular_adenoma" title="Hepatocellular adenoma">Hepatocellular adenoma</a>/<a href="/wiki/Hepatocellular_carcinoma" title="Hepatocellular carcinoma">Hepatocellular carcinoma</a></li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Urogenital_neoplasm" title="Urogenital neoplasm">Urogenital</a></th><td class="navbox-list-with-group navbox-list navbox-even" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/Renal_cell_carcinoma" title="Renal cell carcinoma">Renal cell carcinoma</a></li> <li><a href="/wiki/Endometrioid_tumor" title="Endometrioid tumor">Endometrioid tumor</a></li> <li><a href="/wiki/Renal_oncocytoma" title="Renal oncocytoma">Renal oncocytoma</a></li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Endocrine_gland_neoplasm" title="Endocrine gland neoplasm">Endocrine</a></th><td class="navbox-list-with-group navbox-list navbox-odd" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/Prolactinoma" title="Prolactinoma">Prolactinoma</a></li> <li><a href="/wiki/Multiple_endocrine_neoplasia" title="Multiple endocrine neoplasia">Multiple endocrine neoplasia</a></li> <li><a href="/wiki/Adrenocortical_adenoma" title="Adrenocortical adenoma">Adrenocortical adenoma</a>/<a href="/wiki/Adrenocortical_carcinoma" title="Adrenocortical carcinoma">Adrenocortical carcinoma</a></li> <li><a href="/wiki/H%C3%BCrthle_cell" title="Hürthle cell">Hürthle cell</a></li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%">Other/multiple</th><td class="navbox-list-with-group navbox-list navbox-even" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/Neuroendocrine_tumor" title="Neuroendocrine tumor">Neuroendocrine tumor</a> <ul><li><a href="/wiki/Carcinoid" title="Carcinoid">Carcinoid</a></li></ul></li> <li><a href="/wiki/Adenoid_cystic_carcinoma" title="Adenoid cystic carcinoma">Adenoid cystic carcinoma</a></li> <li><a href="/wiki/Oncocytoma" title="Oncocytoma">Oncocytoma</a></li> <li><a href="/wiki/Clear-cell_adenocarcinoma" title="Clear-cell adenocarcinoma">Clear-cell adenocarcinoma</a></li> <li><a href="/wiki/Apudoma" title="Apudoma">Apudoma</a></li> <li><a href="/wiki/Adenoid_cystic_carcinoma" title="Adenoid cystic carcinoma">Cylindroma</a></li> <li><a href="/wiki/Papillary_hidradenoma" title="Papillary hidradenoma">Papillary hidradenoma</a></li></ul> </div></td></tr></tbody></table><div></div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%">Adnexal and<br />skin appendage</th><td class="navbox-list-with-group navbox-list navbox-odd" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><i>sweat gland</i> <ul><li><a href="/wiki/Hidrocystoma" title="Hidrocystoma">Hidrocystoma</a></li> <li><a href="/wiki/Syringoma" title="Syringoma">Syringoma</a></li></ul></li> <li><a href="/wiki/Syringocystadenoma_papilliferum" title="Syringocystadenoma papilliferum">Syringocystadenoma papilliferum</a></li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%">Cystic,<br />mucinous,<br />and serous</th><td class="navbox-list-with-group navbox-list navbox-odd" style="width:100%;padding:0"><div style="padding:0 0.25em"></div><table class="nowraplinks navbox-subgroup" style="border-spacing:0"><tbody><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Cystic" class="mw-redirect" title="Cystic">Cystic</a> general</th><td class="navbox-list-with-group navbox-list navbox-even" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/Cystadenoma" title="Cystadenoma">Cystadenoma</a>/<a href="/wiki/Cystadenocarcinoma" title="Cystadenocarcinoma">Cystadenocarcinoma</a></li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Mucous_gland" title="Mucous gland">Mucinous</a></th><td class="navbox-list-with-group navbox-list navbox-odd" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/Signet_ring_cell_carcinoma" title="Signet ring cell carcinoma">Signet ring cell carcinoma</a> <ul><li><a href="/wiki/Krukenberg_tumor" title="Krukenberg tumor">Krukenberg tumor</a></li></ul></li> <li><span class="wrap"><a href="/wiki/Mucinous_cystadenoma" title="Mucinous cystadenoma">Mucinous cystadenoma</a> / <a href="/wiki/Mucinous_cystadenocarcinoma" title="Mucinous cystadenocarcinoma">Mucinous cystadenocarcinoma</a></span> <ul><li><a href="/wiki/Pseudomyxoma_peritonei" title="Pseudomyxoma peritonei">Pseudomyxoma peritonei</a></li></ul></li> <li><a href="/wiki/Mucoepidermoid_carcinoma" title="Mucoepidermoid carcinoma">Mucoepidermoid carcinoma</a></li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Serous_gland" title="Serous gland">Serous</a></th><td class="navbox-list-with-group navbox-list navbox-even" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><span class="wrap"><a href="/wiki/Ovarian_serous_cystadenoma" title="Ovarian serous cystadenoma">Ovarian serous cystadenoma</a> / <a href="/wiki/Pancreatic_serous_cystadenoma" title="Pancreatic serous cystadenoma">Pancreatic serous cystadenoma</a> / <a href="/wiki/Serous_cystadenocarcinoma" title="Serous cystadenocarcinoma">Serous cystadenocarcinoma</a> / <a href="/wiki/Papillary_serous_cystadenocarcinoma" title="Papillary serous cystadenocarcinoma">Papillary serous cystadenocarcinoma</a> </span></li></ul> </div></td></tr></tbody></table><div></div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%">Ductal,<br />lobular,<br />and medullary</th><td class="navbox-list-with-group navbox-list navbox-odd" style="width:100%;padding:0"><div style="padding:0 0.25em"></div><table class="nowraplinks navbox-subgroup" style="border-spacing:0"><tbody><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Ductal_carcinoma" title="Ductal carcinoma">Ductal carcinoma</a></th><td class="navbox-list-with-group navbox-list navbox-odd" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/Mammary_ductal_carcinoma" class="mw-redirect" title="Mammary ductal carcinoma">Mammary ductal carcinoma</a></li> <li><a href="/wiki/Pancreatic_ductal_carcinoma" class="mw-redirect" title="Pancreatic ductal carcinoma">Pancreatic ductal carcinoma</a></li> <li><a href="/wiki/Comedocarcinoma" title="Comedocarcinoma">Comedocarcinoma</a></li> <li><span class="wrap"><a href="/wiki/Paget%27s_disease_of_the_breast" title="Paget's disease of the breast">Paget's disease of the breast</a> / <a href="/wiki/Extramammary_Paget%27s_disease" title="Extramammary Paget's disease">Extramammary Paget's disease</a></span></li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Lobular_carcinoma" title="Lobular carcinoma">Lobular carcinoma</a></th><td class="navbox-list-with-group navbox-list navbox-even" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/Lobular_carcinoma_in_situ" title="Lobular carcinoma in situ">Lobular carcinoma in situ</a></li> <li><a href="/wiki/Invasive_lobular_carcinoma" title="Invasive lobular carcinoma">Invasive lobular carcinoma</a></li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Medullary_carcinoma" title="Medullary carcinoma">Medullary carcinoma</a></th><td class="navbox-list-with-group navbox-list navbox-odd" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/Medullary_breast_carcinoma" title="Medullary breast carcinoma">Medullary breast carcinoma</a></li> <li><a href="/wiki/Medullary_thyroid_cancer" title="Medullary thyroid cancer">Medullary thyroid cancer</a></li></ul> </div></td></tr></tbody></table><div></div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Acinus" title="Acinus">Acinar</a> cell</th><td class="navbox-list-with-group navbox-list navbox-even" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/Acinic_cell_carcinoma" title="Acinic cell carcinoma">Acinic cell carcinoma</a></li></ul> </div></td></tr></tbody></table><div></div></td></tr></tbody></table></div> <div class="navbox-styles"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1129693374"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1236075235"></div><div role="navigation" class="navbox" aria-labelledby="Digestive_system_neoplasia150" style="padding:3px"><table class="nowraplinks mw-collapsible autocollapse navbox-inner" style="border-spacing:0;background:transparent;color:inherit"><tbody><tr><th scope="col" class="navbox-title" colspan="2"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1129693374"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1239400231"><div class="navbar plainlinks hlist navbar-mini"><ul><li class="nv-view"><a href="/wiki/Template:Digestive_system_neoplasia" title="Template:Digestive system neoplasia"><abbr title="View this template">v</abbr></a></li><li class="nv-talk"><a href="/wiki/Template_talk:Digestive_system_neoplasia" title="Template talk:Digestive system neoplasia"><abbr title="Discuss this template">t</abbr></a></li><li class="nv-edit"><a href="/wiki/Special:EditPage/Template:Digestive_system_neoplasia" title="Special:EditPage/Template:Digestive system neoplasia"><abbr title="Edit this template">e</abbr></a></li></ul></div><div id="Digestive_system_neoplasia150" style="font-size:114%;margin:0 4em"><a href="/wiki/Digestive_system_neoplasm" title="Digestive system neoplasm">Digestive system neoplasia</a></div></th></tr><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Human_gastrointestinal_tract" class="mw-redirect" title="Human gastrointestinal tract">GI tract</a></th><td class="navbox-list-with-group navbox-list navbox-odd hlist" style="width:100%;padding:0"><div style="padding:0 0.25em"></div><table class="nowraplinks navbox-subgroup" style="border-spacing:0"><tbody><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Upper_alimentary_tract#Upper_gastrointestinal_tract" class="mw-redirect" title="Upper alimentary tract">Upper</a></th><td class="navbox-list-with-group navbox-list navbox-odd" style="width:100%;padding:0"><div style="padding:0 0.25em"></div><table class="nowraplinks navbox-subgroup" style="border-spacing:0"><tbody><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Esophageal_cancer" title="Esophageal cancer">Esophagus</a></th><td class="navbox-list-with-group navbox-list navbox-odd" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/Squamous_cell_carcinoma" class="mw-redirect" title="Squamous cell carcinoma">Squamous cell carcinoma</a></li> <li><a href="/wiki/Adenocarcinoma" title="Adenocarcinoma">Adenocarcinoma</a></li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Stomach_cancer" title="Stomach cancer">Stomach</a></th><td class="navbox-list-with-group navbox-list navbox-even" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/Gastric_carcinoma" class="mw-redirect" title="Gastric carcinoma">Gastric carcinoma</a></li> <li><a href="/wiki/Signet_ring_cell_carcinoma" title="Signet ring cell carcinoma">Signet ring cell carcinoma</a></li> <li><a href="/wiki/Gastric_lymphoma" title="Gastric lymphoma">Gastric lymphoma</a> <ul><li><a href="/wiki/MALT_lymphoma" title="MALT lymphoma">MALT lymphoma</a></li></ul></li> <li><a href="/wiki/Linitis_plastica" title="Linitis plastica">Linitis plastica</a></li> <li><a href="/wiki/Hereditary_diffuse_gastric_cancer" title="Hereditary diffuse gastric cancer">Hereditary diffuse gastric cancer</a></li></ul> </div></td></tr></tbody></table><div></div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Human_gastrointestinal_tract#Lower_gastrointestinal_tract" class="mw-redirect" title="Human gastrointestinal tract">Lower</a></th><td class="navbox-list-with-group navbox-list navbox-odd" style="width:100%;padding:0"><div style="padding:0 0.25em"></div><table class="nowraplinks navbox-subgroup" style="border-spacing:0"><tbody><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Small_intestine_cancer" title="Small intestine cancer">Small intestine</a></th><td class="navbox-list-with-group navbox-list navbox-odd" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/Duodenal_cancer" title="Duodenal cancer">Duodenal cancer</a> <ul><li><a href="/wiki/Adenocarcinoma" title="Adenocarcinoma">Adenocarcinoma</a></li></ul></li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Appendix_cancer" title="Appendix cancer">Appendix</a></th><td class="navbox-list-with-group navbox-list navbox-even" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/Carcinoid" title="Carcinoid">Carcinoid</a></li> <li><a href="/wiki/Pseudomyxoma_peritonei" title="Pseudomyxoma peritonei">Pseudomyxoma peritonei</a></li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Colorectal_cancer" title="Colorectal cancer">Colon/rectum</a></th><td class="navbox-list-with-group navbox-list navbox-odd" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><i><a href="/wiki/Colorectal_polyp" title="Colorectal polyp">Colorectal polyp</a>:</i> <a href="/wiki/Colorectal_adenoma" title="Colorectal adenoma">adenoma</a>, <a href="/wiki/Hyperplastic_polyp" title="Hyperplastic polyp">hyperplastic</a>, <a href="/wiki/Juvenile_polyp" title="Juvenile polyp">juvenile</a>, <a href="/wiki/Sessile_serrated_adenoma" class="mw-redirect" title="Sessile serrated adenoma">sessile serrated adenoma</a>, <a href="/wiki/Traditional_serrated_adenoma" title="Traditional serrated adenoma">traditional serrated adenoma</a>, <a href="/wiki/Peutz%E2%80%93Jeghers_syndrome" title="Peutz–Jeghers syndrome">Peutz–Jeghers</a>, <a href="/wiki/Cronkhite%E2%80%93Canada_syndrome" title="Cronkhite–Canada syndrome">Cronkhite–Canada</a></li></ul> <ul><li><i>Polyposis syndromes:</i> <a href="/wiki/Juvenile_polyposis_syndrome" title="Juvenile polyposis syndrome">Juvenile</a></li> <li><a href="/wiki/MUTYH-associated_polyposis" title="MUTYH-associated polyposis">MUTYH-associated</a></li> <li><a class="mw-selflink selflink">Familial adenomatous</a>/<a href="/wiki/Gardner%27s_syndrome" title="Gardner's syndrome">Gardner's</a></li> <li><a href="/wiki/Polymerase_proofreading-associated_polyposis" title="Polymerase proofreading-associated polyposis">Polymerase proofreading-associated</a></li> <li><a href="/wiki/Serrated_polyposis_syndrome" title="Serrated polyposis syndrome">Serrated polyposis</a></li></ul> <ul><li><i>Neoplasm:</i> <a href="/wiki/Adenocarcinoma" title="Adenocarcinoma">Adenocarcinoma</a></li> <li><a class="mw-selflink selflink">Familial adenomatous polyposis</a></li> <li><a href="/wiki/Hereditary_nonpolyposis_colorectal_cancer" title="Hereditary nonpolyposis colorectal cancer">Hereditary nonpolyposis colorectal cancer</a></li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Anal_cancer" title="Anal cancer">Anus</a></th><td class="navbox-list-with-group navbox-list navbox-even" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/Squamous_cell_carcinoma" class="mw-redirect" title="Squamous cell carcinoma">Squamous cell carcinoma</a></li></ul> </div></td></tr></tbody></table><div></div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%">Upper and/or lower</th><td class="navbox-list-with-group navbox-list navbox-odd" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/Gastrointestinal_stromal_tumor" title="Gastrointestinal stromal tumor">Gastrointestinal stromal tumor</a></li> <li><a href="/wiki/Krukenberg_tumor" title="Krukenberg tumor">Krukenberg tumor (metastatic)</a></li></ul> </div></td></tr></tbody></table><div></div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Accessory_digestive_gland" class="mw-redirect" title="Accessory digestive gland">Accessory</a></th><td class="navbox-list-with-group navbox-list navbox-odd hlist" style="width:100%;padding:0"><div style="padding:0 0.25em"></div><table class="nowraplinks navbox-subgroup" style="border-spacing:0"><tbody><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Liver_tumor" title="Liver tumor">Liver</a></th><td class="navbox-list-with-group navbox-list navbox-even" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><i><a href="/wiki/Malignant" class="mw-redirect" title="Malignant">malignant</a>:</i> <a href="/wiki/Hepatocellular_carcinoma" title="Hepatocellular carcinoma">Hepatocellular carcinoma</a> <ul><li><a href="/wiki/Fibrolamellar_hepatocellular_carcinoma" title="Fibrolamellar hepatocellular carcinoma">Fibrolamellar</a></li></ul></li> <li><a href="/wiki/Hepatoblastoma" title="Hepatoblastoma">Hepatoblastoma</a></li> <li><a href="/wiki/Liver_angiosarcoma" title="Liver angiosarcoma">Liver angiosarcoma</a></li></ul> <ul><li><i><a href="/wiki/Benign_tumor" title="Benign tumor">benign</a>:</i> <a href="/wiki/Hepatocellular_adenoma" title="Hepatocellular adenoma">Hepatocellular adenoma</a></li> <li><a href="/wiki/Cavernous_hemangioma" title="Cavernous hemangioma">Cavernous hemangioma</a></li></ul> <ul><li><i><a href="/wiki/Hyperplasia" title="Hyperplasia">hyperplasia</a>:</i> <a href="/wiki/Focal_nodular_hyperplasia" title="Focal nodular hyperplasia">Focal nodular hyperplasia</a></li> <li><a href="/wiki/Nodular_regenerative_hyperplasia" title="Nodular regenerative hyperplasia">Nodular regenerative hyperplasia</a></li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Biliary_tract" title="Biliary tract">Biliary tract</a></th><td class="navbox-list-with-group navbox-list navbox-odd" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><i><a href="/wiki/Bile_duct" title="Bile duct">bile duct</a>:</i> <a href="/wiki/Cholangiocarcinoma" title="Cholangiocarcinoma">Cholangiocarcinoma</a></li> <li><a href="/wiki/Klatskin_tumor" title="Klatskin tumor">Klatskin tumor</a></li></ul> <ul><li><i><a href="/wiki/Gallbladder" title="Gallbladder">gallbladder</a>:</i> <a href="/wiki/Gallbladder_cancer" title="Gallbladder cancer">Gallbladder cancer</a></li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Pancreatic_cancer" title="Pancreatic cancer">Pancreas</a></th><td class="navbox-list-with-group navbox-list navbox-even" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><i><a href="/wiki/Exocrine_pancreas" class="mw-redirect" title="Exocrine pancreas">exocrine pancreas</a>:</i> <a href="/wiki/Adenocarcinoma" title="Adenocarcinoma">Adenocarcinoma</a></li> <li><a href="/wiki/Pancreatic_ductal_carcinoma" class="mw-redirect" title="Pancreatic ductal carcinoma">Pancreatic ductal carcinoma</a></li></ul> <ul><li><i><a href="/wiki/Cyst" title="Cyst">cystic</a> <a href="/wiki/Neoplasm" title="Neoplasm">neoplasms</a></i>: <a href="/wiki/Serous_microcystic_adenoma" class="mw-redirect" title="Serous microcystic adenoma">Serous microcystic adenoma</a></li> <li><a href="/wiki/Intraductal_papillary_mucinous_neoplasm" title="Intraductal papillary mucinous neoplasm">Intraductal papillary mucinous neoplasm</a></li> <li><a href="/wiki/Pancreatic_mucinous_cystic_neoplasm" title="Pancreatic mucinous cystic neoplasm">Mucinous cystic neoplasm</a></li> <li><a href="/wiki/Solid_pseudopapillary_neoplasm" class="mw-redirect" title="Solid pseudopapillary neoplasm">Solid pseudopapillary neoplasm</a></li></ul> <ul><li><a href="/wiki/Pancreatoblastoma" title="Pancreatoblastoma">Pancreatoblastoma</a></li></ul> </div></td></tr></tbody></table><div></div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Peritoneum" title="Peritoneum">Peritoneum</a></th><td class="navbox-list-with-group navbox-list navbox-odd hlist" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/Primary_peritoneal_carcinoma" title="Primary peritoneal carcinoma">Primary peritoneal carcinoma</a></li> <li><a href="/wiki/Peritoneal_mesothelioma" title="Peritoneal mesothelioma">Peritoneal mesothelioma</a></li> <li><a href="/wiki/Desmoplastic_small_round_cell_tumor" class="mw-redirect" title="Desmoplastic small round cell tumor">Desmoplastic small round cell tumor</a></li></ul> </div></td></tr></tbody></table></div> <div class="navbox-styles"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1129693374"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1236075235"></div><div role="navigation" class="navbox" aria-labelledby="Cytoskeletal_defects220" style="padding:3px"><table class="nowraplinks hlist mw-collapsible autocollapse navbox-inner" style="border-spacing:0;background:transparent;color:inherit"><tbody><tr><th scope="col" class="navbox-title" colspan="2"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1129693374"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1239400231"><div class="navbar plainlinks hlist navbar-mini"><ul><li class="nv-view"><a href="/wiki/Template:Cytoskeletal_defects" title="Template:Cytoskeletal defects"><abbr title="View this template">v</abbr></a></li><li class="nv-talk"><a href="/wiki/Template_talk:Cytoskeletal_defects" title="Template talk:Cytoskeletal defects"><abbr title="Discuss this template">t</abbr></a></li><li class="nv-edit"><a href="/wiki/Special:EditPage/Template:Cytoskeletal_defects" title="Special:EditPage/Template:Cytoskeletal defects"><abbr title="Edit this template">e</abbr></a></li></ul></div><div id="Cytoskeletal_defects220" style="font-size:114%;margin:0 4em"><a href="/wiki/Cytoskeleton" title="Cytoskeleton">Cytoskeletal</a> defects</div></th></tr><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Microfilament" title="Microfilament">Microfilaments</a></th><td class="navbox-list-with-group navbox-list navbox-odd" style="width:100%;padding:0"><div style="padding:0 0.25em"></div><table class="nowraplinks navbox-subgroup" style="border-spacing:0"><tbody><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Myofilament" title="Myofilament">Myofilament</a></th><td class="navbox-list-with-group navbox-list navbox-odd" style="width:100%;padding:0"><div style="padding:0 0.25em"></div><table class="nowraplinks navbox-subgroup" style="border-spacing:0"><tbody><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Actin" title="Actin">Actin</a></th><td class="navbox-list-with-group navbox-list navbox-odd" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/Hypertrophic_cardiomyopathy" title="Hypertrophic cardiomyopathy">Hypertrophic cardiomyopathy 11</a></li> <li><a href="/wiki/Dilated_cardiomyopathy" title="Dilated cardiomyopathy">Dilated cardiomyopathy 1AA</a></li> <li><a href="/wiki/Nonsyndromic_deafness" title="Nonsyndromic deafness">DFNA20</a></li> <li><a href="/wiki/Nemaline_myopathy" title="Nemaline myopathy">Nemaline myopathy 3</a></li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Myosin" title="Myosin">Myosin</a></th><td class="navbox-list-with-group navbox-list navbox-even" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/Elejalde_syndrome" title="Elejalde syndrome">Elejalde syndrome</a></li> <li><a href="/wiki/Hypertrophic_cardiomyopathy" title="Hypertrophic cardiomyopathy">Hypertrophic cardiomyopathy 1, 8, 10</a></li> <li><a href="/wiki/Usher_syndrome" title="Usher syndrome">Usher syndrome 1B</a></li> <li><a href="/wiki/Freeman%E2%80%93Sheldon_syndrome" title="Freeman–Sheldon syndrome">Freeman–Sheldon syndrome</a></li> <li><a href="/wiki/Nonsyndromic_deafness" title="Nonsyndromic deafness">DFN A3, 4, 11, 17, 22; B2, 30, 37, 48</a></li> <li><a href="/wiki/May%E2%80%93Hegglin_anomaly" title="May–Hegglin anomaly">May–Hegglin anomaly</a></li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Troponin" title="Troponin">Troponin</a></th><td class="navbox-list-with-group navbox-list navbox-odd" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/Hypertrophic_cardiomyopathy" title="Hypertrophic cardiomyopathy">Hypertrophic cardiomyopathy 7, 2</a></li> <li><a href="/wiki/Nemaline_myopathy" title="Nemaline myopathy">Nemaline myopathy 4, 5</a></li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Tropomyosin" title="Tropomyosin">Tropomyosin</a></th><td class="navbox-list-with-group navbox-list navbox-even" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/Hypertrophic_cardiomyopathy" title="Hypertrophic cardiomyopathy">Hypertrophic cardiomyopathy 3</a></li> <li><a href="/wiki/Nemaline_myopathy" title="Nemaline myopathy">Nemaline myopathy 1</a></li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Titin" title="Titin">Titin</a></th><td class="navbox-list-with-group navbox-list navbox-odd" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/Hypertrophic_cardiomyopathy" title="Hypertrophic cardiomyopathy">Hypertrophic cardiomyopathy 9</a></li></ul> </div></td></tr></tbody></table><div></div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%">Other</th><td class="navbox-list-with-group navbox-list navbox-even" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/Fibrillin" title="Fibrillin">Fibrillin</a> <ul><li><a href="/wiki/Marfan_syndrome" title="Marfan syndrome">Marfan syndrome</a></li> <li><a href="/wiki/Weill%E2%80%93Marchesani_syndrome" title="Weill–Marchesani syndrome">Weill–Marchesani syndrome</a></li></ul></li> <li><a href="/wiki/Filamin" title="Filamin">Filamin</a> <ul><li><a href="/wiki/FG_syndrome" title="FG syndrome">FG syndrome 2</a></li> <li><a href="/wiki/Boomerang_dysplasia" title="Boomerang dysplasia">Boomerang dysplasia</a></li> <li><a href="/wiki/Larsen_syndrome" title="Larsen syndrome">Larsen syndrome</a></li> <li><a href="/wiki/Terminal_osseous_dysplasia_with_pigmentary_defects" title="Terminal osseous dysplasia with pigmentary defects">Terminal osseous dysplasia with pigmentary defects</a></li></ul></li></ul> </div></td></tr></tbody></table><div></div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Intermediate_filament" title="Intermediate filament">IF</a></th><td class="navbox-list-with-group navbox-list navbox-odd" style="width:100%;padding:0"><div style="padding:0 0.25em"></div><table class="nowraplinks navbox-subgroup" style="border-spacing:0"><tbody><tr><th scope="row" class="navbox-group" style="width:1%">1/2</th><td class="navbox-list-with-group navbox-list navbox-odd" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/Keratin_disease" title="Keratin disease">Keratinopathy</a> (<a href="/wiki/Keratosis" title="Keratosis">keratosis</a>, <a href="/wiki/Keratoderma" title="Keratoderma">keratoderma</a>, <a href="/wiki/Hyperkeratosis" title="Hyperkeratosis">hyperkeratosis</a>): <a href="/wiki/Keratin_1" title="Keratin 1">KRT1</a> <ul><li><a href="/wiki/Palmoplantar_keratoderma" title="Palmoplantar keratoderma">Striate palmoplantar keratoderma 3</a></li> <li><a href="/wiki/Epidermolytic_hyperkeratosis" title="Epidermolytic hyperkeratosis">Epidermolytic hyperkeratosis</a></li> <li><a href="/wiki/Ichthyosis_hystrix" title="Ichthyosis hystrix">IHCM</a></li></ul></li> <li><a href="/wiki/Keratin_2A" title="Keratin 2A">KRT2E</a> (<a href="/wiki/Ichthyosis_bullosa_of_Siemens" title="Ichthyosis bullosa of Siemens">Ichthyosis bullosa of Siemens</a>)</li> <li><a href="/wiki/Keratin_3" title="Keratin 3">KRT3</a> (<a href="/wiki/Meesmann_juvenile_epithelial_corneal_dystrophy" class="mw-redirect" title="Meesmann juvenile epithelial corneal dystrophy">Meesmann juvenile epithelial corneal dystrophy</a>)</li> <li><a href="/wiki/Keratin_4" title="Keratin 4">KRT4</a> (<a href="/wiki/White_sponge_nevus" title="White sponge nevus">White sponge nevus</a>)</li> <li><a href="/wiki/Keratin_5" title="Keratin 5">KRT5</a> (<a href="/wiki/Epidermolysis_bullosa_simplex" title="Epidermolysis bullosa simplex">Epidermolysis bullosa simplex</a>)</li> <li><a href="/wiki/Keratin_8" title="Keratin 8">KRT8</a> (<a href="/wiki/Familial_cirrhosis" title="Familial cirrhosis">Familial cirrhosis</a>)</li> <li><a href="/wiki/Keratin_10" title="Keratin 10">KRT10</a> (<a href="/wiki/Epidermolytic_hyperkeratosis" title="Epidermolytic hyperkeratosis">Epidermolytic hyperkeratosis</a>)</li> <li><a href="/wiki/Keratin_12" title="Keratin 12">KRT12</a> (<a href="/wiki/Meesmann_juvenile_epithelial_corneal_dystrophy" class="mw-redirect" title="Meesmann juvenile epithelial corneal dystrophy">Meesmann juvenile epithelial corneal dystrophy</a>)</li> <li><a href="/wiki/Keratin_13" title="Keratin 13">KRT13</a> (<a href="/wiki/White_sponge_nevus" title="White sponge nevus">White sponge nevus</a>)</li> <li><a href="/wiki/Keratin_14" title="Keratin 14">KRT14</a> (<a href="/wiki/Epidermolysis_bullosa_simplex" title="Epidermolysis bullosa simplex">Epidermolysis bullosa simplex</a>)</li> <li><a href="/wiki/Keratin_17" title="Keratin 17">KRT17</a> (<a href="/wiki/Steatocystoma_multiplex" title="Steatocystoma multiplex">Steatocystoma multiplex</a>)</li> <li><a href="/wiki/Keratin_18" title="Keratin 18">KRT18</a> (<a href="/wiki/Familial_cirrhosis" title="Familial cirrhosis">Familial cirrhosis</a>)</li> <li><a href="/wiki/KRT81" title="KRT81">KRT81</a>/<a href="/wiki/KRT83" title="KRT83">KRT83</a>/<a href="/wiki/KRT86" title="KRT86">KRT86</a> (<a href="/wiki/Monilethrix" title="Monilethrix">Monilethrix</a>)</li> <li><a href="/wiki/Naegeli%E2%80%93Franceschetti%E2%80%93Jadassohn_syndrome" title="Naegeli–Franceschetti–Jadassohn syndrome">Naegeli–Franceschetti–Jadassohn syndrome</a></li> <li><a href="/wiki/Reticular_pigmented_anomaly_of_the_flexures" title="Reticular pigmented anomaly of the flexures">Reticular pigmented anomaly of the flexures</a></li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%">3</th><td class="navbox-list-with-group navbox-list navbox-even" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/Desmin" title="Desmin">Desmin</a>: <a href="/wiki/Desmin-related_myofibrillar_myopathy" title="Desmin-related myofibrillar myopathy">Desmin-related myofibrillar myopathy</a></li> <li><a href="/wiki/Dilated_cardiomyopathy" title="Dilated cardiomyopathy">Dilated cardiomyopathy 1I</a></li></ul> <ul><li><a href="/wiki/Glial_fibrillary_acidic_protein" title="Glial fibrillary acidic protein">GFAP</a>: <a href="/wiki/Alexander_disease" title="Alexander disease">Alexander disease</a></li></ul> <ul><li><a href="/wiki/Peripherin" title="Peripherin">Peripherin</a>: <a href="/wiki/Amyotrophic_lateral_sclerosis" class="mw-redirect" title="Amyotrophic lateral sclerosis">Amyotrophic lateral sclerosis</a></li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%">4</th><td class="navbox-list-with-group navbox-list navbox-odd" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/Neurofilament" title="Neurofilament">Neurofilament</a>: <a href="/wiki/Parkinson%27s_disease" title="Parkinson's disease">Parkinson's disease</a></li> <li><a href="/wiki/Charcot%E2%80%93Marie%E2%80%93Tooth_disease" title="Charcot–Marie–Tooth disease">Charcot–Marie–Tooth disease 1F, 2E</a></li> <li><a href="/wiki/Amyotrophic_lateral_sclerosis" class="mw-redirect" title="Amyotrophic lateral sclerosis">Amyotrophic lateral sclerosis</a></li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%">5</th><td class="navbox-list-with-group navbox-list navbox-even" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/Laminopathy" title="Laminopathy">Laminopathy</a>: LMNA <ul><li><a href="/wiki/Mandibuloacral_dysplasia" title="Mandibuloacral dysplasia">Mandibuloacral dysplasia</a></li> <li><a href="/wiki/Dunnigan_familial_partial_lipodystrophy" title="Dunnigan familial partial lipodystrophy">Dunnigan</a> <a href="/wiki/Familial_partial_lipodystrophy" title="Familial partial lipodystrophy">Familial partial lipodystrophy</a></li> <li><a href="/wiki/Emery%E2%80%93Dreifuss_muscular_dystrophy_2" class="mw-redirect" title="Emery–Dreifuss muscular dystrophy 2">Emery–Dreifuss muscular dystrophy 2</a></li> <li><a href="/wiki/Limb-girdle_muscular_dystrophy" class="mw-redirect" title="Limb-girdle muscular dystrophy">Limb-girdle muscular dystrophy 1B</a></li> <li><a href="/wiki/Charcot%E2%80%93Marie%E2%80%93Tooth_disease_2B1" class="mw-redirect" title="Charcot–Marie–Tooth disease 2B1">Charcot–Marie–Tooth disease 2B1</a></li></ul></li> <li>LMNB <ul><li><a href="/wiki/Barraquer%E2%80%93Simons_syndrome" title="Barraquer–Simons syndrome">Barraquer–Simons syndrome</a></li></ul></li> <li>LEMD3 <ul><li><a href="/wiki/Buschke%E2%80%93Ollendorff_syndrome" title="Buschke–Ollendorff syndrome">Buschke–Ollendorff syndrome</a></li> <li><a href="/wiki/Osteopoikilosis" title="Osteopoikilosis">Osteopoikilosis</a></li></ul></li> <li>LBR <ul><li><a href="/wiki/Pelger%E2%80%93Huet_anomaly" class="mw-redirect" title="Pelger–Huet anomaly">Pelger–Huet anomaly</a></li> <li><a href="/wiki/Hydrops-ectopic_calcification-moth-eaten_skeletal_dysplasia" title="Hydrops-ectopic calcification-moth-eaten skeletal dysplasia">Hydrops-ectopic calcification-moth-eaten skeletal dysplasia</a></li></ul></li></ul> </div></td></tr></tbody></table><div></div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Microtubule" title="Microtubule">Microtubules</a></th><td class="navbox-list-with-group navbox-list navbox-odd" style="width:100%;padding:0"><div style="padding:0 0.25em"></div><table class="nowraplinks navbox-subgroup" style="border-spacing:0"><tbody><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Kinesin" title="Kinesin">Kinesin</a></th><td class="navbox-list-with-group navbox-list navbox-odd" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/Charcot%E2%80%93Marie%E2%80%93Tooth_disease" title="Charcot–Marie–Tooth disease">Charcot–Marie–Tooth disease 2A</a></li> <li><a href="/wiki/Hereditary_spastic_paraplegia" title="Hereditary spastic paraplegia">Hereditary spastic paraplegia 10</a></li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Dynein" title="Dynein">Dynein</a></th><td class="navbox-list-with-group navbox-list navbox-even" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/Primary_ciliary_dyskinesia" title="Primary ciliary dyskinesia">Primary ciliary dyskinesia</a></li> <li><a href="/wiki/Short_rib-polydactyly_syndrome_3" class="mw-redirect" title="Short rib-polydactyly syndrome 3">Short rib-polydactyly syndrome 3</a></li> <li><a href="/wiki/Asphyxiating_thoracic_dysplasia_3" class="mw-redirect" title="Asphyxiating thoracic dysplasia 3">Asphyxiating thoracic dysplasia 3</a></li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%">Other</th><td class="navbox-list-with-group navbox-list navbox-odd" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/Tauopathy" title="Tauopathy">Tauopathy</a></li> <li><a href="/wiki/Cavernous_venous_malformation" class="mw-redirect" title="Cavernous venous malformation">Cavernous venous malformation</a></li></ul> </div></td></tr></tbody></table><div></div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Membrane_protein" title="Membrane protein">Membrane</a></th><td class="navbox-list-with-group navbox-list navbox-even" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/Spectrin" title="Spectrin">Spectrin</a>: <a href="/wiki/Spinocerebellar_ataxia_5" class="mw-redirect" title="Spinocerebellar ataxia 5">Spinocerebellar ataxia 5</a></li> <li><a href="/wiki/Hereditary_spherocytosis_2,_3" class="mw-redirect" title="Hereditary spherocytosis 2, 3">Hereditary spherocytosis 2, 3</a></li> <li><a href="/wiki/Hereditary_elliptocytosis_2,_3" class="mw-redirect" title="Hereditary elliptocytosis 2, 3">Hereditary elliptocytosis 2, 3</a></li></ul> <p><a href="/wiki/Ankyrin" title="Ankyrin">Ankyrin</a>: <a href="/wiki/Long_QT_syndrome_4" class="mw-redirect" title="Long QT syndrome 4">Long QT syndrome 4</a> </p> <ul><li><a href="/wiki/Hereditary_spherocytosis_1" class="mw-redirect" title="Hereditary spherocytosis 1">Hereditary spherocytosis 1</a></li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Catenin" title="Catenin">Catenin</a></th><td class="navbox-list-with-group navbox-list navbox-odd" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><i><a href="/wiki/Adenomatous_polyposis_coli" title="Adenomatous polyposis coli">APC</a></i> <ul><li><a href="/wiki/Gardner%27s_syndrome" title="Gardner's syndrome">Gardner's syndrome</a></li> <li><a class="mw-selflink selflink">Familial adenomatous polyposis</a></li></ul></li> <li><i><a href="/wiki/Plakoglobin" title="Plakoglobin">plakoglobin</a></i> (<a href="/wiki/Naxos_syndrome" title="Naxos syndrome">Naxos syndrome</a>)</li> <li><i><a href="/wiki/Gigaxonin" title="Gigaxonin">GAN</a></i> (<a href="/wiki/Giant_axonal_neuropathy" title="Giant axonal neuropathy">Giant axonal neuropathy</a>)</li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%">Other</th><td class="navbox-list-with-group navbox-list navbox-even" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/Desmoplakin" title="Desmoplakin">desmoplakin</a>: <a href="/wiki/Palmoplantar_keratoderma" title="Palmoplantar keratoderma">Striate palmoplantar keratoderma 2</a></li> <li><a href="/wiki/Palmoplantar_keratoderma" title="Palmoplantar keratoderma">Carvajal syndrome</a></li> <li><a href="/wiki/Arrhythmogenic_right_ventricular_dysplasia" class="mw-redirect" title="Arrhythmogenic right ventricular dysplasia">Arrhythmogenic right ventricular dysplasia 8</a></li></ul> <ul><li><a href="/wiki/Plectin" title="Plectin">plectin</a>: <a href="/wiki/Epidermolysis_bullosa_simplex_with_muscular_dystrophy" class="mw-redirect" title="Epidermolysis bullosa simplex with muscular dystrophy">Epidermolysis bullosa simplex with muscular dystrophy</a></li> <li><a href="/wiki/Epidermolysis_bullosa_simplex_of_Ogna" class="mw-redirect" title="Epidermolysis bullosa simplex of Ogna">Epidermolysis bullosa simplex of Ogna</a></li></ul> <ul><li><a href="/wiki/Plakophilin" title="Plakophilin">plakophilin</a>: <a href="/wiki/Skin_fragility_syndrome" title="Skin fragility syndrome">Skin fragility syndrome</a></li> <li><a href="/wiki/Arrhythmogenic_right_ventricular_dysplasia" class="mw-redirect" title="Arrhythmogenic right ventricular dysplasia">Arrhythmogenic right ventricular dysplasia 9</a></li></ul> <ul><li><a href="/wiki/Centrosome" title="Centrosome">centrosome</a>: <i><a href="/wiki/PCNT" title="PCNT">PCNT</a></i> (<a href="/wiki/Microcephalic_osteodysplastic_primordial_dwarfism_type_II" title="Microcephalic osteodysplastic primordial dwarfism type II">Microcephalic osteodysplastic primordial dwarfism type II</a>)</li></ul> </div></td></tr><tr><td class="navbox-abovebelow" colspan="2"><div><i>Related topics: <a href="/wiki/Template:Cytoskeletal_proteins" title="Template:Cytoskeletal proteins">Cytoskeletal proteins</a></i></div></td></tr></tbody></table></div>    </div><noscript><img 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