Familial adenomatous polyposis (FAP) is an inherited disorder characterized by the early onset of multiple adenomatous polyps in the colon and ...SkiptomaincontentThankyouforvisitingnature.com.YouareusingabrowserversionwithlimitedsupportforCSS.Toobtainthebestexperience,werecommendyouuseamoreuptodatebrowser(orturnoffcompatibilitymodeinInternetExplorer).Inthemeantime,toensurecontinuedsupport,wearedisplayingthesitewithoutstylesandJavaScript.AdvertisementnaturehumangenomevariationdatareportsarticleAttenuatedfamilialadenomatouspolyposiswithdesmoidscausedbyanAPCmutationDownloadPDFSubjectsCancergeneticsAbstractWepresenthereacaseofattenuatedfamilialadenomatouspolyposis(AFAP)withafamilyhistoryofdesmoidsandthyroidtumors.Thispatienthadnocolonicpolypsbutdidhavemultipledesmoids.Geneticanalysisidentifieda4-bpdeletionincodon2644(c.7932_7935delTTAT:p.Tyr2645LysfsX14)oftheadenomatouspolyposiscoli(APC)gene.Incaseswithlimitednumbersofcolonicpolypsanddesmoids,AFAPmaybecausedbyamutationinthe3′regionofAPC.DownloadPDFFamilialadenomatouspolyposis(FAP)isaninheriteddisordercharacterizedbytheearlyonsetofmultipleadenomatouspolypsinthecolonandrectum.Unlessthecolonisremoved,mostpatientswiththissyndromedevelopcolorectalcancerbytheageof35–40years.Gardner’ssyndromeisavariantofFAPcharacterizedbycolonicpolyposis,osteomasandsofttissuetumors,suchasdesmoids.Desmoidtumorsarebenign,non-inflammatoryfibroblasticneoplasmsthattendtobelocallyinvasivebutarenotmetastatic.However,theyhaveahighpotentialforlocalrecurrencefollowingsurgicalresection.UppergastrointestinalneoplasmsarealsotypicalextracolonicmanifestationsinFAP.Histologically,themajorityofduodenalpolypsareadenomas,whereasthemajorityofgastricpolypsarefundicglandpolyps.Similartootherhereditarycancersyndromes,thereisanincreasedriskofadditionalmalignanciesinFAP,includingthyroidcancer.Germlinemutationsoftheadenomatouspolyposiscoli(APC)genethatisresponsibleforFAPmayalsocauseGardner’ssyndrome.CorrelationshavebeenobservedbetweenmutationinAPCandtheFAPphenotype.Mu