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<meta name="keywords" content="C4225157, disease or syndrome, familial adenomatous polyposis 3, familial adenomatous polyposis type 3, fap3, nthl1, nthl1-related adenomatous polyposis and colorectal cancer, nthl1-related afap, nthl1-related attenuated familial adenomatous polyposis, nthl1-related attenuated fap, autosomal dominant, autosomal recessive, birth defects, chromosomal disease, chromosome, clinical features, clinical findings, clinical genetics, clinical recommendations, clinvar, congenital chromosomal disease, consumer genetic resources, cytogenetic location, disease characteristics, disease definitions, disease descriptions, disease ontology, disease synonyms, disease vocabulary, dysmorphology, entrez, familial disease, gene, gene-disease relationship, genereviews, genetic disease, genetic disorder, genetic terminology, genetic testing registry, genetics home reference, genomic disease, gtr, hereditary disease, heritable disease, hpo, human phenotype ontology, inherited disease, management guidelines, maternal inheritance, medgen, medical genetics, medical subject headings, mesh, mitochondrial inheritance, mode of inheritance, national center for biotechnology information, national institutes of health, national library of medicine, ncbi, nih, nlm, omim, ordo, orphanet, paternal inheritance, phenome, position statements, professional practice guidelines, rare disease, reference sequence, refseq, snomed ct, syndrome, undiagnosed diseases, x-linked recessive" /><meta name="description" content="NTHL1 tumor syndrome is characterized by an increased lifetime risk for colorectal cancer (CRC), breast cancer, and colorectal polyposis. Colorectal polyps can be adenomatous, hyperplastic, and/or sessile serrated. Duodenal polyposis has also been reported. Additional cancers reported in individuals with NTHL1 tumor syndrome include endometrial cancer, cervical cancer, urothelial carcinoma of the bladder, meningiomas, unspecified brain tumors, basal cell carcinomas, head and neck squamous cell carcinomas, and hematologic malignancies. The cumulative lifetime risk of developing extracolonic cancer by age 60 years has been estimated at 35% to 78%." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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UID=902388
|
||
ConceptID=C4225157
|
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Familial adenomatous polyposis 3<span class="h1sub">(FAP3)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>902388</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information."><span class="highlight" style="background-color:">C4225157</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>NTHL1-Related Adenomatous Polyposis and Colorectal Cancer; NTHL1-related attenuated familial adenomatous polyposis</td></tr>
|
||
<tr><td>Modes of inheritance:</td>
|
||
<td>
|
||
<div class="divPopper rprt" id="moi_141025"><div><strong>Autosomal recessive inheritance</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>141025</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0441748</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Intellectual Product</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Source: Orphanet</div>
|
||
<div class="spaceAbove">A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).</div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#moi_141025" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autosomal recessive inheritance</a><span> (Orphanet)</span></div></td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td><a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#target-gene-loc">Gene (location):<img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a><div class="display-none" id="target-gene-loc">
|
||
Gene(s) directly associated with<br />
|
||
this condition or phenotype.</div></td>
|
||
<td><a target="_blank" title="NTHL1 - ID: 4913 - NCBI Gene" href="/gene/4913" class="medgenPMinfo">NTHL1</a> (16p13.3)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0014630" target="_blank">MONDO:0014630</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/616415" target="_blank">616415</a></td></tr>
|
||
<tr><td>Orphanet:</td>
|
||
<td><a target="_blank" title="Orphanet: The portal for rare diseases and orphan drugs" href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=454840">ORPHA454840</a></td></tr></tbody></table></div><div class="rprt-body jig-ncbiinpagenav" data-jigconfig="smoothScroll: false, gotoTopLink: true, gotoTopLinkText: '', gotoTopLinkAttrs: {'title': 'Go to the top of the page'},allHeadingLevels: ['h1'], topOfPageTOC: true, tocId: 'my-toc'"><div id="rprt-tabs-1" class="rprt-tab"><div id="tb-termsProp-1"><div class="leftCol mgCol"><div>
|
||
<div class="portlet mgSection" id="ID_101">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Disease_characteristics">Disease characteristics</h1><a sid="101" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><div class="excerpt">Excerpted from the <i>GeneReview: </i><a href="/books/NBK555473" target="_blank">NTHL1 Tumor Syndrome</a></div><div>NTHL1 tumor syndrome is characterized by an increased lifetime risk for colorectal cancer (CRC), breast cancer, and colorectal polyposis. Colorectal polyps can be adenomatous, hyperplastic, and/or sessile serrated. Duodenal polyposis has also been reported. Additional cancers reported in individuals with NTHL1 tumor syndrome include endometrial cancer, cervical cancer, urothelial carcinoma of the bladder, meningiomas, unspecified brain tumors, basal cell carcinomas, head and neck squamous cell carcinomas, and hematologic malignancies. The cumulative lifetime risk of developing extracolonic cancer by age 60 years has been estimated at 35% to 78%. [from <a title="GeneReviews" href="https://www.ncbi.nlm.nih.gov/books/NBK1116" class="defSource" target="_blank">GeneReviews</a>]</div><div class="spaceAbove"><strong>Full text of <i>GeneReview</i> (by section):</strong><br /><a class="medgenPMinfo" href="/books/NBK555473#nthl1-ts.Summary" target="NBK555473">Summary</a> | <a class="medgenPMinfo" href="/books/NBK555473#nthl1-ts.Diagnosis" target="NBK555473">Diagnosis</a> | <a class="medgenPMinfo" href="/books/NBK555473#nthl1-ts.Clinical_Characteristics" target="NBK555473">Clinical Characteristics</a> | <a class="medgenPMinfo" href="/books/NBK555473#nthl1-ts.Genetically_Related_Allelic_Dis" target="NBK555473">Genetically Related (Allelic) Disorders</a> | <a class="medgenPMinfo" href="/books/NBK555473#nthl1-ts.Differential_Diagnosis" target="NBK555473">Differential Diagnosis</a> | <a class="medgenPMinfo" href="/books/NBK555473#nthl1-ts.Management" target="NBK555473">Management</a> | <a class="medgenPMinfo" href="/books/NBK555473#nthl1-ts.Genetic_Counseling" target="NBK555473">Genetic Counseling</a> | <a class="medgenPMinfo" href="/books/NBK555473#nthl1-ts.Resources" target="NBK555473">Resources</a> | <a class="medgenPMinfo" href="/books/NBK555473#nthl1-ts.Molecular_Genetics" target="NBK555473">Molecular Genetics</a> | <a class="medgenPMinfo" href="/books/NBK555473#nthl1-ts.Chapter_Notes" target="NBK555473">Chapter Notes</a> | <a class="medgenPMinfo" href="/books/NBK555473#nthl1-ts.References" target="NBK555473">References</a></div><div class="spaceAbove"><strong>Authors:</strong><br />
|
||
Roland P Kuiper | Maartje Nielsen | Richarda M De Voer<i>, et. al.</i> <a href="/books/NBK555473" target="NBK555473" title="NCBI Bookshelf: NTHL1 Tumor Syndrome">view full author information</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_117">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Additional_description">Additional description</h1><a sid="117" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><div class="mgSection"><strong>From OMIM</strong><br />Familial adenomatous polyposis-3 is an autosomal recessive cancer predisposition syndrome characterized by the development of multiple colonic adenomas, often with progression to colorectal cancer. Carcinomas affecting other tissues may also occur, and the carcinomas tend to develop in middle age or late adulthood (summary by Weren et al., 2015).
|
||
For a discussion of genetic heterogeneity of familial adenomatous polyposis, see FAP1 (175100). <a target="_blank" href="http://www.omim.org/entry/616415">http://www.omim.org/entry/616415</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_102">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_features">Clinical features</h1><a sid="102" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln clinfeat"><strong>From HPO</strong><br />
|
||
<div class="divPopper rprt" id="clin_594"><div><strong>Bladder neoplasm</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>594</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0005695</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Neoplastic Process</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The presence of a neoplasm of the urinary bladder.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/594">Feature record</a> | <a href="/medgen?term=%22Bladder%20neoplasm%22%5BClinical%20Features%5D%20OR%20594%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_138169"><div><strong>Malignant tumor of prostate</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>138169</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0376358</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Neoplastic Process</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A cancer of the prostate.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/138169">Feature record</a> | <a href="/medgen?term=%22Malignant%20tumor%20of%20prostate%22%5BClinical%20Features%5D%20OR%20138169%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1648304"><div><strong>Skin basal cell carcinoma</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1648304</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C4721806</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Neoplastic Process</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The presence of a basal cell carcinoma of the skin.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1648304">Feature record</a> | <a href="/medgen?term=%22Skin%20basal%20cell%20carcinoma%22%5BClinical%20Features%5D%20OR%201648304%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_96903"><div><strong>Endometrial carcinoma</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>96903</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0476089</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Neoplastic Process</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A carcinoma of the endometrium, the mucous lining of the uterus.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/96903">Feature record</a> | <a href="/medgen?term=%22Endometrial%20carcinoma%22%5BClinical%20Features%5D%20OR%2096903%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_2839"><div><strong>Colon cancer</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>2839</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0007102</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Neoplastic Process</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A primary or metastatic malignant neoplasm that affects the colon. Representative examples include carcinoma, lymphoma, and sarcoma.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/2839">Feature record</a> | <a href="/medgen?term=%22Colon%20cancer%22%5BClinical%20Features%5D%20OR%202839%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_82985"><div><strong>Duodenal adenocarcinoma</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>82985</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0278804</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Neoplastic Process</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A malignant epithelial tumor with a glandular organization that originates in the duodenum.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/82985">Feature record</a> | <a href="/medgen?term=%22Duodenal%20adenocarcinoma%22%5BClinical%20Features%5D%20OR%2082985%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_83800"><div><strong>Pancreatic adenocarcinoma</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>83800</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0281361</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Neoplastic Process</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The presence of an adenocarcinoma of the pancreas.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/83800">Feature record</a> | <a href="/medgen?term=%22Pancreatic%20adenocarcinoma%22%5BClinical%20Features%5D%20OR%2083800%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_358118"><div><strong>Adenomatous colonic polyposis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>358118</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1868071</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Presence of multiple adenomatous polyps in the colon.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/358118">Feature record</a> | <a href="/medgen?term=%22Adenomatous%20colonic%20polyposis%22%5BClinical%20Features%5D%20OR%20358118%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_7532"><div><strong>Meningioma</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>7532</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0025286</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Neoplastic Process</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The presence of a meningioma, i.e., a benign tumor originating from the dura mater or arachnoid mater.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/7532">Feature record</a> | <a href="/medgen?term=%22Meningioma%22%5BClinical%20Features%5D%20OR%207532%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_146260"><div><strong>Breast carcinoma</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>146260</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0678222</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Neoplastic Process</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The presence of a carcinoma of the breast.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/146260">Feature record</a> | <a href="/medgen?term=%22Breast%20carcinoma%22%5BClinical%20Features%5D%20OR%20146260%5Buid%5D">Search on this feature</a></div></div><div class="TreeLite" data-jigconfig="closed: 1"><div class="concept-def"><a class="small" href="#" onclick="jQuery(".TreeLite","#ID_102").TreeLite().openAll(); return false;">Show all</a><a class="small" href="#" onclick="jQuery(".TreeLite","#ID_102").TreeLite().closeAll(); return false;">Hide all</a></div><ul><li><span class="TLline">Abnormality of the breast</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_146260" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Breast carcinoma</a></span></li></ul></li><li><span class="TLline">Abnormality of the digestive system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_358118" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Adenomatous colonic polyposis</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_2839" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Colon cancer</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_82985" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Duodenal adenocarcinoma</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_83800" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Pancreatic adenocarcinoma</a></span></li></ul></li><li><span class="TLline">Abnormality of the genitourinary system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_96903" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Endometrial carcinoma</a></span></li></ul></li><li><span class="TLline">Abnormality of the nervous system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_7532" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Meningioma</a></span></li></ul></li><li><span class="TLline">Neoplasm</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_594" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Bladder neoplasm</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_138169" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Malignant tumor of prostate</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1648304" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Skin basal cell carcinoma</a></span></li></ul></li></ul></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_118">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test, </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test, </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM, </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>, </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C4225157[DISCUI]&test_type=Clinical" ref="ncbi_uid=902388">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=902388" target="_blank" href="/omim/602656">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK555473/" ref="ncbi_uid=902388">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=902388" ref="ncbi_uid=902388">V</a></span></span><span class="TLline">Familial adenomatous polyposis 3</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/21047" ref="tree=MeSH" title="MedGen record for Pathological Conditions, Signs and Symptoms">Pathological Conditions, Signs and Symptoms</a></span><ul><li><span class="TLline"><a href="/medgen/18325" ref="tree=MeSH" title="MedGen record for Pathological process">Pathological process</a></span><ul><li><span class="TLline"><a href="/medgen/4347" ref="tree=MeSH" title="MedGen record for Disease">Disease</a></span><ul><li><span class="TLline"><a href="/medgen/5527" ref="tree=MeSH" title="MedGen record for Hereditary disease">Hereditary disease</a></span><ul><li><span class="TLline"><a href="/medgen/14326" ref="tree=MeSH" title="MedGen record for Hereditary cancer-predisposing syndrome">Hereditary cancer-predisposing syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/436213" ref="tree=MeSH" title="MedGen record for Attenuated familial adenomatous polyposis">Attenuated familial adenomatous polyposis</a></span><ul><li><span class="matched_ds">Familial adenomatous polyposis 3</span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_105">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Professional_guidelines">Professional guidelines</h1><a sid="105" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">PubMed<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpPM"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/36768460">Genetic Predisposition to Colorectal Cancer: How Many and Which Genes to Test?</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rebuzzi F,
|
||
Ulivi P,
|
||
Tedaldi G</span><br />
|
||
<span class="medgenPMjournal">Int J Mol Sci</span>
|
||
2023 Jan 21;24(3)
|
||
doi: 10.3390/ijms24032137.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36768460" target="_blank">36768460</a><a href="/pmc/articles/PMC9916931" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35670122">Evolving strategies for management of desmoid tumor.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Riedel RF,
|
||
Agulnik M</span><br />
|
||
<span class="medgenPMjournal">Cancer</span>
|
||
2022 Aug 15;128(16):3027-3040.
|
||
Epub 2022 Jun 7
|
||
doi: 10.1002/cncr.34332.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35670122" target="_blank">35670122</a><a href="/pmc/articles/PMC9546183" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25645574">ACG clinical guideline: Genetic testing and management of hereditary gastrointestinal cancer syndromes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Syngal S,
|
||
Brand RE,
|
||
Church JM,
|
||
Giardiello FM,
|
||
Hampel HL,
|
||
Burt RW;
|
||
American College of Gastroenterology</span><br />
|
||
<span class="medgenPMjournal">Am J Gastroenterol</span>
|
||
2015 Feb;110(2):223-62; quiz 263.
|
||
Epub 2015 Feb 3
|
||
doi: 10.1038/ajg.2014.435.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25645574" target="_blank">25645574</a><a href="/pmc/articles/PMC4695986" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(familial%20adenomatous%20polyposis%203)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">See all (143)</a></div><h3 class="subhead">Curated<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpCurated"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3><h3 class="nl vspace"><a href="https://www.nice.org.uk/guidance/cg118" target="_blank">UK NICE Clinical Guideline CG118, Colorectal cancer prevention: colonoscopic surveillance in adults with ulcerative colitis, Crohn's disease or adenomas, 2022</a></h3>
|
||
<h3 class="nl vspace"><a href="https://www.acmg.net/ACMG/UploadedPDFS/PDFDocuments/Familial-Adenomatous-Polyposis-ACT-Sheet.aspx" target="_blank">American College of Medical Genetics and Genomics, Genomic Testing (Secondary Findings) ACT Sheet, APC Pathogenic Variants (Familial Adenomatous Polyposis [FAP]), 2019</a></h3>
|
||
</div>
|
||
</div>
|
||
<div class="display-none help-popup" id="guidelinesHelpPM">These guidelines are articles in PubMed that match specific search criteria developed by MedGen to capture the most relevant practice guidelines. This list may not be comprehensive and may include broader topics as well. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div><div class="display-none help-popup" id="guidelinesHelpCurated">These guidelines are manually curated by the MedGen team
|
||
to supplement articles available in PubMed. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div>
|
||
<div class="portlet mgSection" id="ID_103">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_clinical_studies">Recent clinical studies</h1><a sid="103" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">Etiology</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37165697">Hereditary colorectal, gastric, and pancreatic cancer: comprehensive review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Seppälä TT,
|
||
Burkhart RA,
|
||
Katona BW</span><br />
|
||
<span class="medgenPMjournal">BJS Open</span>
|
||
2023 May 5;7(3)
|
||
doi: 10.1093/bjsopen/zrad023.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37165697" target="_blank">37165697</a><a href="/pmc/articles/PMC10172688" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35670122">Evolving strategies for management of desmoid tumor.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Riedel RF,
|
||
Agulnik M</span><br />
|
||
<span class="medgenPMjournal">Cancer</span>
|
||
2022 Aug 15;128(16):3027-3040.
|
||
Epub 2022 Jun 7
|
||
doi: 10.1002/cncr.34332.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35670122" target="_blank">35670122</a><a href="/pmc/articles/PMC9546183" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32402295">Cancer Genetics.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Van Cott C</span><br />
|
||
<span class="medgenPMjournal">Surg Clin North Am</span>
|
||
2020 Jun;100(3):483-498.
|
||
Epub 2020 Apr 16
|
||
doi: 10.1016/j.suc.2020.02.012.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32402295" target="_blank">32402295</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25645574">ACG clinical guideline: Genetic testing and management of hereditary gastrointestinal cancer syndromes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Syngal S,
|
||
Brand RE,
|
||
Church JM,
|
||
Giardiello FM,
|
||
Hampel HL,
|
||
Burt RW;
|
||
American College of Gastroenterology</span><br />
|
||
<span class="medgenPMjournal">Am J Gastroenterol</span>
|
||
2015 Feb;110(2):223-62; quiz 263.
|
||
Epub 2015 Feb 3
|
||
doi: 10.1038/ajg.2014.435.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25645574" target="_blank">25645574</a><a href="/pmc/articles/PMC4695986" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22103050">Different surgical strategies in the treatment of familial adenomatous polyposis: what's the role of the ileorectal anastomosis?</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wolthuis AM,
|
||
Leonard D,
|
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Kartheuser A,
|
||
Bruyninx L,
|
||
Van De Stadt J,
|
||
Van Cutsem E,
|
||
D'Hoore A</span><br />
|
||
<span class="medgenPMjournal">Acta Gastroenterol Belg</span>
|
||
2011 Sep;74(3):435-7.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22103050" target="_blank">22103050</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Familial%20adenomatous%20polyposis%203%22%20AND%20Etiology%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (1461)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37165697">Hereditary colorectal, gastric, and pancreatic cancer: comprehensive review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Seppälä TT,
|
||
Burkhart RA,
|
||
Katona BW</span><br />
|
||
<span class="medgenPMjournal">BJS Open</span>
|
||
2023 May 5;7(3)
|
||
doi: 10.1093/bjsopen/zrad023.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37165697" target="_blank">37165697</a><a href="/pmc/articles/PMC10172688" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35670122">Evolving strategies for management of desmoid tumor.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Riedel RF,
|
||
Agulnik M</span><br />
|
||
<span class="medgenPMjournal">Cancer</span>
|
||
2022 Aug 15;128(16):3027-3040.
|
||
Epub 2022 Jun 7
|
||
doi: 10.1002/cncr.34332.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35670122" target="_blank">35670122</a><a href="/pmc/articles/PMC9546183" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32402295">Cancer Genetics.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Van Cott C</span><br />
|
||
<span class="medgenPMjournal">Surg Clin North Am</span>
|
||
2020 Jun;100(3):483-498.
|
||
Epub 2020 Apr 16
|
||
doi: 10.1016/j.suc.2020.02.012.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32402295" target="_blank">32402295</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31605533">The missing heritability of familial colorectal cancer.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Schubert SA,
|
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Morreau H,
|
||
de Miranda NFCC,
|
||
van Wezel T</span><br />
|
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<span class="medgenPMjournal">Mutagenesis</span>
|
||
2020 Jul 11;35(3):221-231.
|
||
doi: 10.1093/mutage/gez027.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31605533" target="_blank">31605533</a><a href="/pmc/articles/PMC7352099" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25645574">ACG clinical guideline: Genetic testing and management of hereditary gastrointestinal cancer syndromes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Syngal S,
|
||
Brand RE,
|
||
Church JM,
|
||
Giardiello FM,
|
||
Hampel HL,
|
||
Burt RW;
|
||
American College of Gastroenterology</span><br />
|
||
<span class="medgenPMjournal">Am J Gastroenterol</span>
|
||
2015 Feb;110(2):223-62; quiz 263.
|
||
Epub 2015 Feb 3
|
||
doi: 10.1038/ajg.2014.435.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25645574" target="_blank">25645574</a><a href="/pmc/articles/PMC4695986" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Familial%20adenomatous%20polyposis%203%22%20AND%20Diagnosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (1078)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/34767785">Protective Role of Spermidine in Colitis and Colon Carcinogenesis.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Gobert AP,
|
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Latour YL,
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Asim M,
|
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Barry DP,
|
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Allaman MM,
|
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Finley JL,
|
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Smith TM,
|
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McNamara KM,
|
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Singh K,
|
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Sierra JC,
|
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Delgado AG,
|
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Luis PB,
|
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Schneider C,
|
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Washington MK,
|
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Piazuelo MB,
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Zhao S,
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Coburn LA,
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Wilson KT</span><br />
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<span class="medgenPMjournal">Gastroenterology</span>
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2022 Mar;162(3):813-827.e8.
|
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Epub 2021 Nov 10
|
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doi: 10.1053/j.gastro.2021.11.005.
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<span class="bold">PMID: </span><a href="/pubmed/34767785" target="_blank">34767785</a><a href="/pmc/articles/PMC8881368" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
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|
||
<div class="nl"><a target="_blank" href="/pubmed/27546842">Small Bowel Adenocarcinoma.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Aparicio T,
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Zaanan A,
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Mary F,
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Afchain P,
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Manfredi S,
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Evans TR</span><br />
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<span class="medgenPMjournal">Gastroenterol Clin North Am</span>
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2016 Sep;45(3):447-57.
|
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doi: 10.1016/j.gtc.2016.04.004.
|
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<span class="bold">PMID: </span><a href="/pubmed/27546842" target="_blank">27546842</a></div>
|
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|
||
<div class="nl"><a target="_blank" href="/pubmed/26541605">Vitamin C selectively kills KRAS and BRAF mutant colorectal cancer cells by targeting GAPDH.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Yun J,
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Mullarky E,
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Lu C,
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Bosch KN,
|
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Kavalier A,
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Rivera K,
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Roper J,
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Chio II,
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Giannopoulou EG,
|
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Rago C,
|
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Muley A,
|
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Asara JM,
|
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Paik J,
|
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Elemento O,
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Chen Z,
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Pappin DJ,
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Dow LE,
|
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Papadopoulos N,
|
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Gross SS,
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Cantley LC</span><br />
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<span class="medgenPMjournal">Science</span>
|
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2015 Dec 11;350(6266):1391-6.
|
||
Epub 2015 Nov 5
|
||
doi: 10.1126/science.aaa5004.
|
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<span class="bold">PMID: </span><a href="/pubmed/26541605" target="_blank">26541605</a><a href="/pmc/articles/PMC4778961" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
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|
||
<div class="nl"><a target="_blank" href="/pubmed/20859198">Clinical cancer genetics: Part I: Gastrointestinal.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Pollock J,
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Welsh JS</span><br />
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<span class="medgenPMjournal">Am J Clin Oncol</span>
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2011 Jun;34(3):332-6.
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doi: 10.1097/COC.0b013e3181dea432.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20859198" target="_blank">20859198</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/15108571">COX-2--selective NSAIDs.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Hutchison R</span><br />
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<span class="medgenPMjournal">Am J Nurs</span>
|
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2004 Mar;104(3):52-5; quiz 55-6.
|
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doi: 10.1097/00000446-200403000-00021.
|
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<span class="bold">PMID: </span><a href="/pubmed/15108571" target="_blank">15108571</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Familial%20adenomatous%20polyposis%203%22%20AND%20Therapy%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (583)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/35670122">Evolving strategies for management of desmoid tumor.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Riedel RF,
|
||
Agulnik M</span><br />
|
||
<span class="medgenPMjournal">Cancer</span>
|
||
2022 Aug 15;128(16):3027-3040.
|
||
Epub 2022 Jun 7
|
||
doi: 10.1002/cncr.34332.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35670122" target="_blank">35670122</a><a href="/pmc/articles/PMC9546183" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31605533">The missing heritability of familial colorectal cancer.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Schubert SA,
|
||
Morreau H,
|
||
de Miranda NFCC,
|
||
van Wezel T</span><br />
|
||
<span class="medgenPMjournal">Mutagenesis</span>
|
||
2020 Jul 11;35(3):221-231.
|
||
doi: 10.1093/mutage/gez027.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31605533" target="_blank">31605533</a><a href="/pmc/articles/PMC7352099" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27083160">Chemoprevention of familial adenomatous polyposis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lynch PM</span><br />
|
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<span class="medgenPMjournal">Fam Cancer</span>
|
||
2016 Jul;15(3):467-75.
|
||
doi: 10.1007/s10689-016-9901-9.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27083160" target="_blank">27083160</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25645574">ACG clinical guideline: Genetic testing and management of hereditary gastrointestinal cancer syndromes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Syngal S,
|
||
Brand RE,
|
||
Church JM,
|
||
Giardiello FM,
|
||
Hampel HL,
|
||
Burt RW;
|
||
American College of Gastroenterology</span><br />
|
||
<span class="medgenPMjournal">Am J Gastroenterol</span>
|
||
2015 Feb;110(2):223-62; quiz 263.
|
||
Epub 2015 Feb 3
|
||
doi: 10.1038/ajg.2014.435.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25645574" target="_blank">25645574</a><a href="/pmc/articles/PMC4695986" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/7834110">Colorectal tumourigenesis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Peiser J,
|
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Smith A,
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||
Bapat B,
|
||
Stern H</span><br />
|
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<span class="medgenPMjournal">Surg Oncol</span>
|
||
1994 Aug;3(4):195-201.
|
||
doi: 10.1016/0960-7404(94)90034-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/7834110" target="_blank">7834110</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Familial%20adenomatous%20polyposis%203%22%20AND%20Prognosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (785)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/28991077">Surveillance of Duodenal Polyposis in Familial Adenomatous Polyposis: Should the Spigelman Score Be Modified?</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sourrouille I,
|
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Lefèvre JH,
|
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Shields C,
|
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Colas C,
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Bellanger J,
|
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Desaint B,
|
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Paye F,
|
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Tiret E,
|
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Parc Y</span><br />
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<span class="medgenPMjournal">Dis Colon Rectum</span>
|
||
2017 Nov;60(11):1137-1146.
|
||
doi: 10.1097/DCR.0000000000000903.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28991077" target="_blank">28991077</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27083160">Chemoprevention of familial adenomatous polyposis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lynch PM</span><br />
|
||
<span class="medgenPMjournal">Fam Cancer</span>
|
||
2016 Jul;15(3):467-75.
|
||
doi: 10.1007/s10689-016-9901-9.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27083160" target="_blank">27083160</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25645574">ACG clinical guideline: Genetic testing and management of hereditary gastrointestinal cancer syndromes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Syngal S,
|
||
Brand RE,
|
||
Church JM,
|
||
Giardiello FM,
|
||
Hampel HL,
|
||
Burt RW;
|
||
American College of Gastroenterology</span><br />
|
||
<span class="medgenPMjournal">Am J Gastroenterol</span>
|
||
2015 Feb;110(2):223-62; quiz 263.
|
||
Epub 2015 Feb 3
|
||
doi: 10.1038/ajg.2014.435.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25645574" target="_blank">25645574</a><a href="/pmc/articles/PMC4695986" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25102778">Detection of phosphorylated insulin receptor in colorectal adenoma and adenocarcinoma: implications for prognosis and clinical outcome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Abbruzzese C,
|
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Diodoro MG,
|
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Sperduti I,
|
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Mileo AM,
|
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Pattaro G,
|
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De Salvo L,
|
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Cosimelli M,
|
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Perrotti N,
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Paggi MG</span><br />
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<span class="medgenPMjournal">J Cell Physiol</span>
|
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2015 Mar;230(3):562-7.
|
||
doi: 10.1002/jcp.24733.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25102778" target="_blank">25102778</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23524531">Urinary biomarkers for prostate cancer: a review.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Hessels D,
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Schalken JA</span><br />
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<span class="medgenPMjournal">Asian J Androl</span>
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2013 May;15(3):333-9.
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Epub 2013 Mar 25
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doi: 10.1038/aja.2013.6.
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<span class="bold">PMID: </span><a href="/pubmed/23524531" target="_blank">23524531</a><a href="/pmc/articles/PMC3739649" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Familial%20adenomatous%20polyposis%203%22%20AND%20Clinical%20prediction%20guides%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (830)</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_104">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_systematic_reviews">Recent systematic reviews</h1><a sid="104" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">
|
||
<div class="nl"><a target="_blank" href="/pubmed/35022961">Colectomy and desmoid tumours in familial adenomatous polyposis: a systematic review and meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Aelvoet AS,
|
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Struik D,
|
||
Bastiaansen BAJ,
|
||
Bemelman WA,
|
||
Hompes R,
|
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Bossuyt PMM,
|
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Dekker E</span><br />
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<span class="medgenPMjournal">Fam Cancer</span>
|
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2022 Oct;21(4):429-439.
|
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Epub 2022 Jan 13
|
||
doi: 10.1007/s10689-022-00288-y.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35022961" target="_blank">35022961</a><a href="/pmc/articles/PMC9636104" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34000717">Pancreas-Preserving Total Duodenectomy: A Systematic Review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cantalejo-Díaz M,
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Ramia-Ángel JM,
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Palomares-Cano A,
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Serradilla-Martín M</span><br />
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<span class="medgenPMjournal">Dig Surg</span>
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2021;38(3):186-197.
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||
Epub 2021 May 17
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||
doi: 10.1159/000515718.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34000717" target="_blank">34000717</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29663106">Prevalence of thyroid diseases in familial adenomatous polyposis: a systematic review and meta-analysis.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Chenbhanich J,
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Atsawarungruangkit A,
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Korpaisarn S,
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Phupitakphol T,
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Osataphan S,
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Phowthongkum P</span><br />
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<span class="medgenPMjournal">Fam Cancer</span>
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2019 Jan;18(1):53-62.
|
||
doi: 10.1007/s10689-018-0085-3.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29663106" target="_blank">29663106</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26331960">Oral manifestations in patients with familial adenomatous polyposis: A systematic review and meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Almeida FT,
|
||
Pachêco-Pereira C,
|
||
Porporatti AL,
|
||
Flores-Mir C,
|
||
Leite AF,
|
||
De Luca Canto G,
|
||
Guerra EN</span><br />
|
||
<span class="medgenPMjournal">J Gastroenterol Hepatol</span>
|
||
2016 Mar;31(3):527-40.
|
||
doi: 10.1111/jgh.13149.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26331960" target="_blank">26331960</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/20581245">Peutz-Jeghers syndrome: a systematic review and recommendations for management.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Beggs AD,
|
||
Latchford AR,
|
||
Vasen HF,
|
||
Moslein G,
|
||
Alonso A,
|
||
Aretz S,
|
||
Bertario L,
|
||
Blanco I,
|
||
Bülow S,
|
||
Burn J,
|
||
Capella G,
|
||
Colas C,
|
||
Friedl W,
|
||
Møller P,
|
||
Hes FJ,
|
||
Järvinen H,
|
||
Mecklin JP,
|
||
Nagengast FM,
|
||
Parc Y,
|
||
Phillips RK,
|
||
Hyer W,
|
||
Ponz de Leon M,
|
||
Renkonen-Sinisalo L,
|
||
Sampson JR,
|
||
Stormorken A,
|
||
Tejpar S,
|
||
Thomas HJ,
|
||
Wijnen JT,
|
||
Clark SK,
|
||
Hodgson SV</span><br />
|
||
<span class="medgenPMjournal">Gut</span>
|
||
2010 Jul;59(7):975-86.
|
||
doi: 10.1136/gut.2009.198499.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20581245" target="_blank">20581245</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Familial%20adenomatous%20polyposis%203%22%20AND%20systematic%5Bsb%5D%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (46)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
<div id="messagearea_bottom">
|
||
|
||
</div>
|
||
<div class=" bottom">
|
||
|
||
</div>
|
||
|
||
</div>
|
||
</div>
|
||
<div class="supplemental col three_col last">
|
||
<h2 class="offscreen_noflow">Supplemental Content</h2>
|
||
|
||
<div>
|
||
|
||
<!-- MedGen supplemental column starts here -->
|
||
<div class="rightCol mgCol">
|
||
<div class="portlet mgSection" id="ID_113">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Table_of_contents">Table of contents</h1><a sid="113" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul id="my-toc"></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_106">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Genetic_Testing_Registry">Genetic Testing Registry</h1><a sid="106" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C4225157%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (17)</a></li>
|
||
<li><a href="/gtr/tests?term=C4225157%5bDISCUI%5d&filter=method%3A2%5F30" target="_blank">RNA analysis (1)</a></li>
|
||
<li><a href="/gtr/tests?term=C4225157%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (22)</a></li>
|
||
<li><a href="/gtr/tests?term=C4225157%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (4)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C4225157%5bDISCUI%5d" target="_blank">See all (24)</a></total></li>
|
||
</ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_119">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_resources">Clinical resources</h1><a sid="119" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="https://www.omim.org/search?index=entry&start=1&limit=10&sort=score%20desc&field=number&search=616415" target="_blank">OMIM</a></li><li><a href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=454840" target="_blank">Orphanet</a></li><li><a href="https://clinicaltrials.gov/search?cond=Familial%20adenomatous%20polyposis%203" target="_blank">ClinicalTrials.gov</a></li></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_121">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Practice_guidelines">Practice guidelines</h1><a sid="121" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(familial%20adenomatous%20polyposis%203)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">PubMed</a><div class="help-popup">See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li><li><a target="_blank" href="/books/?term=((%22clinical%20guidelines%22%5BResource%20Type%5D)%20OR%20%22practice%20guideline%22%5BPublication%20Type%5D)%20AND%20(%22Familial%20adenomatous%20polyposis%203%22)">Bookshelf</a><div class="help-popup">See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li></ul><h3 class="subhead">Curated</h3><ul class="a_poppers"><li><a target="_blank" href="https://www.nice.org.uk/guidance/cg118">NICE, 2022</a><div>UK NICE Clinical Guideline CG118, Colorectal cancer prevention: colonoscopic surveillance in adults with ulcerative colitis, Crohn's disease or adenomas, 2022</div></li><li><a target="_blank" href="https://www.acmg.net/ACMG/UploadedPDFS/PDFDocuments/Familial-Adenomatous-Polyposis-ACT-Sheet.aspx">ACMG ACT, 2019</a><div>American College of Medical Genetics and Genomics, Genomic Testing (Secondary Findings) ACT Sheet, APC Pathogenic Variants (Familial Adenomatous Polyposis [FAP]), 2019</div></li></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_115">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Molecular_resources">Molecular resources</h1><a sid="115" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="http://www.omim.org/search?index=entry&start=1&limit=10&sort=score%20desc&field=number&search=602656" target="_blank">OMIM</a></li><li><a href="/clinvar/?term=4913[geneid]" target="_blank">View NTHL1 variations in ClinVar</a></li><li><a href="/nuccore/197304675" target="_blank">RefSeqGene</a></li><li><a href="https://catalog.coriell.org/Search?q=616415" target="_blank">Coriell Institute for Medical Research</a></li></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_116">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Consumer_resources">Consumer resources</h1><a sid="116" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="https://www.malacards.org/card/familial_adenomatous_polyposis_3" target="_blank">MalaCards</a></li><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&query=Familial%20adenomatous%20polyposis%203" target="_blank">MedlinePlus</a></li><li><a href="https://rarediseases.info.nih.gov/diseases/17790/disease" target="_blank">NCATS Office of Rare Diseases Research (GARD)</a></li></ul></div>
|
||
</div>
|
||
</div>
|
||
<div class="portlet brieflink">
|
||
<div class="portlet_head">
|
||
<div class="portlet_title">
|
||
<h3>Reviews</h3>
|
||
</div>
|
||
<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenReviews.Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="Reviews" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenReviews.Shutter"></a>
|
||
</div>
|
||
<div class="portlet_content">
|
||
<ul>
|
||
<li>
|
||
<a href="/pubmed/32239880" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=1&linkpostotal=3" target="_blank"><span class="gene_reviews">GeneReviews</span></a>
|
||
</li>
|
||
<li>
|
||
<a href="/pubmed/clinical?term=Familial%20adenomatous%20polyposis%203" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=2&linkpostotal=3" target="_blank">PubMed Clinical Queries</a>
|
||
</li>
|
||
<li>
|
||
<a href="/pubmed?term=Familial%20adenomatous%20polyposis%203%20AND%20humans[mesh]%20AND%20review[publication%20type]" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=3&linkpostotal=3" target="_blank">Reviews in PubMed</a>
|
||
</li>
|
||
</ul>
|
||
</div>
|
||
</div>
|
||
|
||
<!-- MedGen supplemental column ends here -->
|
||
<div class="portlet brieflink">
|
||
<div class="portlet_head">
|
||
<div class="portlet_title">
|
||
<h3>Related information</h3>
|
||
</div>
|
||
<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenDiscoveryDbLinks.Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="discovery_db_links" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenDiscoveryDbLinks.Shutter"></a>
|
||
</div>
|
||
<div class="portlet_content DiscoveryDbLinks">
|
||
<ul>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/clinvar?LinkName=medgen_clinvar&from_uid=902388" ref="log$=recordlinks">ClinVar</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related medical variations</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gene?LinkName=medgen_gene_diseases&from_uid=902388" ref="log$=recordlinks">Gene</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related information in NCBI Gene</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gtr/tests?term=C4225157[DISCUI]" ref="log$=recordlinks">GTR</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related information in GTR</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gtr/tests?term=C4225157[DISCUI]&test_type=Clinical" ref="log$=recordlinks">GTR(Clinical)</a>
|
||
<div class="brieflinkpop offscreen_noflow">Clinical tests in GTR</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/omim?LinkName=medgen_omim&from_uid=902388" ref="log$=recordlinks">OMIM</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related records in OMIM</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/omim?LinkName=medgen_omim_gene&from_uid=902388" ref="log$=recordlinks">OMIM(Genes)</a>
|
||
<div class="brieflinkpop offscreen_noflow">OMIM records containing genes associated with phenotypes registered in MedGen</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pmc?LinkName=medgen_pmc&from_uid=902388" ref="log$=recordlinks">PMC Articles</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related information in PubMed Central Links</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed&from_uid=902388" ref="log$=recordlinks">PubMed</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related literature resources in PubMed</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed_bookshelf_cited&from_uid=902388" ref="log$=recordlinks">PubMed (Bookshelf cited)</a>
|
||
<div class="brieflinkpop offscreen_noflow">Links to PubMed based on citations in GeneReviews and Medical Genetics Summaries</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed_genereviews&from_uid=902388" ref="log$=recordlinks">PubMed (GeneReviews)</a>
|
||
<div class="brieflinkpop offscreen_noflow">GeneReviews in PubMed</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed_omim&from_uid=902388" ref="log$=recordlinks">PubMed (OMIM)</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related literature resources in PubMed</div>
|
||
</li>
|
||
</ul>
|
||
</div>
|
||
</div>
|
||
|
||
|
||
<div class="portlet">
|
||
<div class="portlet_head">
|
||
<div class="portlet_title">
|
||
<h3>Recent activity</h3>
|
||
</div>
|
||
<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="recent_activity" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.Shutter"></a>
|
||
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|
||
<div class="portlet_content">
|
||
<div id="HTDisplay" class="">
|
||
<input name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.Cmd" sid="1" type="hidden" />
|
||
<div class="action">
|
||
<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.ClearHistory" sid="1" realname="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.ClearHistory" cmd="ClearHT" href="?cmd=ClearHT&" onclick="return false;" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.ClearHistory">
|
||
Clear
|
||
</a>
|
||
<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryToggle" sid="1" realname="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryToggle" class="HTOn" cmd="HTOff" href="?cmd=HTOff&" onclick="return false;" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryToggle">
|
||
Turn Off
|
||
</a>
|
||
<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryToggle" sid="2" realname="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryToggle" class="HTOff" cmd="HTOn" href="?cmd=HTOn&" onclick="return false;" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryToggle">
|
||
Turn On
|
||
</a>
|
||
</div>
|
||
<ul id="activity">
|
||
<li class="ra_rcd ralinkpopper two_line">
|
||
<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=1" href="/portal/utils/pageresolver.fcgi?recordid=67cc3871f4a390645e881d8c">Familial adenomatous polyposis 3</a>
|
||
<div class="ralinkpop offscreen_noflow">Familial adenomatous polyposis 3<div class="brieflinkpopdesc"></div></div>
|
||
<div class="tertiary">MedGen</div>
|
||
</li>
|
||
<li class="ra_qry two_line">
|
||
<a class="htb" ref="log$=activity&linkpos=2" href="/portal/utils/pageresolver.fcgi?recordid=67cc386fa68b6b5afcbb3fec">C4225157[conceptid] <span class="number">(1)</span></a>
|
||
<div class="tertiary">MedGen</div>
|
||
</li>
|
||
<li class="ra_qry ralinkpopper two_line">
|
||
<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=3" href="/portal/utils/pageresolver.fcgi?recordid=67cc386ef4a390645e881479">C3272841[trait identifier] AND "Fulgent Genetics, Fulgent Genetic... <span class="number">(81)</span></a>
|
||
<div class="ralinkpop offscreen_noflow">C3272841[trait identifier] AND "Fulgent Genetics, Fulgent Genetics"[submitter]<div class="brieflinkpopdesc">Search</div></div>
|
||
<div class="tertiary">ClinVar</div>
|
||
</li>
|
||
<li class="ra_qry ralinkpopper two_line">
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