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<meta name="keywords" content="C2713442, adenoma, periampullary, somatic, adenomatous intestinal polyposes, adenomatous intestinal polyposis, adenomatous polyposis coli, attenuated, adenomatous polyposis of the colon, apc, apc attenuated familial adenomatous polyposis, apc-associated polyposis conditions, attenuated familial adenomatous polyposis caused by mutation in apc, brain tumor-polyposis syndrome 2, colon cancer (apc i1307k related), disease or syndrome, familial adenomatous polyposis 1, familial adenomatous polyposis 1, attenuated, familial adenomatous polyposis, attenuated, familial polyposis of the colon, fap1, gardner syndrome, intestinal polyposis, adenomatous, polyposis, adenomatous intestinal, 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="APC-associated polyposis conditions include (classic or attenuated) familial adenomatous polyposis (FAP) and gastric adenocarcinoma and proximal polyposis of the stomach (GAPPS). FAP is a colorectal cancer (CRC) predisposition syndrome that can manifest in either classic or attenuated form. Classic FAP is characterized by hundreds to thousands of adenomatous colonic polyps, beginning on average at age 16 years (range 7-36 years). For those with the classic form of FAP, 95% of individuals have polyps by age 35 years; CRC is inevitable without colectomy. The mean age of CRC diagnosis in untreated individuals is 39 years (range 34-43 years). The attenuated form is characterized by multiple colonic polyps (average of 30), more proximally located polyps, and a diagnosis of CRC at a later age than in classic FAP. For those with an attenuated form, there is a 70% lifetime risk of CRC and the mean age of diagnosis is 50-55 years. Extracolonic manifestations are variably present and include polyps of the stomach and duodenum, osteomas, dental abnormalities, congenital hypertrophy of the retinal pigment epithelium (CHRPE), benign cutaneous lesions, desmoid tumors, adrenal masses, and other associated cancers. GAPPS is characterized by proximal gastric polyposis, increased risk of gastric adenocarcinoma, and no duodenal or colonic involvement in most individuals reported." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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||
UID=398651
|
||
ConceptID=C2713442
|
||
-->
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<!--imgCountBooks = 1--><div class="ncbi_carousel" data-ncbicarousel-config="imageWidth:'100px',numItemsVisible:2,toggler:false"><div class="nc_header"><span class="img_strip_title">Image</span></div><div class="nc_content"><div class="nc_item"><a class="figpopup"><img alt="Image from GeneReviews" src="/books/NBK1345/bin/fap-Image001.gif" src-large="/books/NBK1345/bin/fap-Image001.jpg" /></a><br /><a href="/books/NBK1345/figure/fap.F1/" title="GeneReviews" target="_blank">details</a></div></div></div><h1 class="medgenTitle"><div class="MedGenTitleText">Familial adenomatous polyposis 1<span class="h1sub">(FAP1)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>398651</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:">C2713442</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>APC-Associated Polyposis Conditions; Colon Cancer (APC I1307K related); FAMILIAL ADENOMATOUS POLYPOSIS 1, ATTENUATED; FAP1; POLYPOSIS, ADENOMATOUS INTESTINAL</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="APC - ID: 324 - NCBI Gene" href="/gene/324" class="medgenPMinfo">APC</a> (5q22.2)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0021056" target="_blank">MONDO:0021056</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/175100" target="_blank">175100</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>
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<div class="portlet mgSection" id="ID_101">
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<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/NBK1345" target="_blank">APC-Associated Polyposis Conditions</a></div><div>APC-associated polyposis conditions include (classic or attenuated) familial adenomatous polyposis (FAP) and gastric adenocarcinoma and proximal polyposis of the stomach (GAPPS). FAP is a colorectal cancer (CRC) predisposition syndrome that can manifest in either classic or attenuated form. Classic FAP is characterized by hundreds to thousands of adenomatous colonic polyps, beginning on average at age 16 years (range 7-36 years). For those with the classic form of FAP, 95% of individuals have polyps by age 35 years; CRC is inevitable without colectomy. The mean age of CRC diagnosis in untreated individuals is 39 years (range 34-43 years). The attenuated form is characterized by multiple colonic polyps (average of 30), more proximally located polyps, and a diagnosis of CRC at a later age than in classic FAP. For those with an attenuated form, there is a 70% lifetime risk of CRC and the mean age of diagnosis is 50-55 years. Extracolonic manifestations are variably present and include polyps of the stomach and duodenum, osteomas, dental abnormalities, congenital hypertrophy of the retinal pigment epithelium (CHRPE), benign cutaneous lesions, desmoid tumors, adrenal masses, and other associated cancers. GAPPS is characterized by proximal gastric polyposis, increased risk of gastric adenocarcinoma, and no duodenal or colonic involvement in most individuals reported. [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/NBK1345#fap.Summary" target="NBK1345">Summary</a> | <a class="medgenPMinfo" href="/books/NBK1345#fap.GeneReview_Scope" target="NBK1345">GeneReview Scope</a> | <a class="medgenPMinfo" href="/books/NBK1345#fap.Diagnosis" target="NBK1345">Diagnosis</a> | <a class="medgenPMinfo" href="/books/NBK1345#fap.Clinical_Characteristics" target="NBK1345">Clinical Characteristics</a> | <a class="medgenPMinfo" href="/books/NBK1345#fap.Genetically_Related_Allelic_Disorder" target="NBK1345">Genetically Related (Allelic) Disorders</a> | <a class="medgenPMinfo" href="/books/NBK1345#fap.Differential_Diagnosis" target="NBK1345">Differential Diagnosis</a> | <a class="medgenPMinfo" href="/books/NBK1345#fap.Management" target="NBK1345">Management</a> | <a class="medgenPMinfo" href="/books/NBK1345#fap.Genetic_Counseling" target="NBK1345">Genetic Counseling</a> | <a class="medgenPMinfo" href="/books/NBK1345#fap.Resources" target="NBK1345">Resources</a> | <a class="medgenPMinfo" href="/books/NBK1345#fap.Molecular_Genetics" target="NBK1345">Molecular Genetics</a> | <a class="medgenPMinfo" href="/books/NBK1345#fap.Chapter_Notes" target="NBK1345">Chapter Notes</a> | <a class="medgenPMinfo" href="/books/NBK1345#fap.References" target="NBK1345">References</a></div><div class="spaceAbove"><strong>Authors:</strong><br />
|
||
Timothy Yen | Peter P Stanich | Lisen Axell<i>, et. al.</i> <a href="/books/NBK1345" target="NBK1345" title="NCBI Bookshelf: APC-Associated Polyposis Conditions">view full author information</a></div></div>
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</div>
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||
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||
<div class="portlet mgSection" id="ID_117">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Additional_descriptions">Additional descriptions</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-1 (FAP1) is an autosomal dominant disorder characterized by predisposition to cancer. Affected individuals usually develop hundreds to thousands of adenomatous polyps of the colon and rectum, a small proportion of which will progress to colorectal carcinoma if not surgically treated. Gardner syndrome is a variant of FAP in which desmoid tumors, osteomas, and other neoplasms occur together with multiple adenomas of the colon and rectum (Nishisho et al., 1991).
|
||
Rustgi (2007) reviewed the genetics of hereditary colon cancer, including APC.
|
||
Genetic Heterogeneity of Familial Adenomatous Polyposis
|
||
See also autosomal recessive FAP2 (608456), caused by mutation in the MUTYH gene (604933) on chromosome 1p34; autosomal recessive FAP3 (616415), caused by mutation in the NTHL1 gene (602656) on chromosome 16p13; and autosomal recessive FAP4 (617100), caused by mutation in the MSH3 gene (600887) on chromosome 5q11. <a target="_blank" href="http://www.omim.org/entry/175100">http://www.omim.org/entry/175100</a></div><div class="mgSection"><strong>From MedlinePlus Genetics</strong><br />Familial adenomatous polyposis (FAP) is an inherited disorder characterized by cancer of the large intestine (colon) and rectum. People with the classic type of familial adenomatous polyposis may begin to develop multiple noncancerous (benign) growths (polyps) in the colon as early as their teenage years. Unless the colon is removed, these polyps will become malignant (cancerous). The average age at which an individual develops colon cancer in classic familial adenomatous polyposis is 39 years. Some people have a variant of the disorder, called attenuated familial adenomatous polyposis, in which polyp growth is delayed. The average age of colorectal cancer onset for attenuated familial adenomatous polyposis is 55 years.<br /><br />In people with classic familial adenomatous polyposis, the number of polyps increases with age, and hundreds to thousands of polyps can develop in the colon. Also of particular significance are noncancerous growths called desmoid tumors. These fibrous tumors usually occur in the tissue covering the intestines and may be provoked by surgery to remove the colon. Desmoid tumors tend to recur after they are surgically removed. In both classic familial adenomatous polyposis and its attenuated variant, benign and malignant tumors are sometimes found in other places in the body, including the duodenum (a section of the small intestine), stomach, bones, skin, and other tissues. People who have colon polyps as well as growths outside the colon are sometimes described as having Gardner syndrome.<br /><br />A milder type of familial adenomatous polyposis, called autosomal recessive familial adenomatous polyposis, has also been identified. People with the autosomal recessive type of this disorder have fewer polyps than those with the classic type. Fewer than 100 polyps typically develop, rather than hundreds or thousands. The autosomal recessive type of this disorder is caused by mutations in a different gene than the classic and attenuated types of familial adenomatous polyposis. <a target="_blank" href="https://medlineplus.gov/genetics/condition/familial-adenomatous-polyposis">https://medlineplus.gov/genetics/condition/familial-adenomatous-polyposis</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_102">
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||
<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_2867"><div><strong>Carcinoma</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>2867</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.">C0007097</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Neoplastic Process</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A malignant tumor arising from epithelial cells. Carcinomas that arise from glandular epithelium are called adenocarcinomas, those that arise from squamous epithelium are called squamous cell carcinomas, and those that arise from transitional epithelium are called transitional cell carcinomas (NCI Thesaurus).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/2867">Feature record</a> | <a href="/medgen?term=%22Carcinoma%22%5BClinical%20Features%5D%20OR%202867%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_42016"><div><strong>Fibroma</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>42016</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.">C0016045</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Neoplastic Process</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Benign tumors that are composed of fibrous or connective tissue. They can grow in all organs, arising from mesenchyme tissue. The term "fibroblastic" or "fibromatous" is used to describe tumors of the fibrous connective tissue. When the term fibroma is used without modifier, it is usually considered benign, with the term fibrosarcoma reserved for malignant tumors.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/42016">Feature record</a> | <a href="/medgen?term=%22Fibroma%22%5BClinical%20Features%5D%20OR%2042016%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_61644"><div><strong>Hepatoblastoma</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>61644</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.">C0206624</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Neoplastic Process</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A kind of neoplasm of the liver that originates from immature liver precursor cells and macroscopically is composed of tissue resembling fetal or mature liver cells or bile ducts.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/61644">Feature record</a> | <a href="/medgen?term=%22Hepatoblastoma%22%5BClinical%20Features%5D%20OR%2061644%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_61654"><div><strong>Adrenocortical adenoma</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>61654</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.">C0206667</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Neoplastic Process</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Adrenocortical adenomas are benign tumors of the adrenal cortex.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/61654">Feature record</a> | <a href="/medgen?term=%22Adrenocortical%20adenoma%22%5BClinical%20Features%5D%20OR%2061654%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_104917"><div><strong>Adrenal cortex carcinoma</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>104917</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.">C0206686</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Neoplastic Process</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A malignant neoplasm of the adrenal cortex that may produce hormones such as cortisol, aldosterone, estrogen, or testosterone.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/104917">Feature record</a> | <a href="/medgen?term=%22Adrenal%20cortex%20carcinoma%22%5BClinical%20Features%5D%20OR%20104917%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_66773"><div><strong>Papillary thyroid carcinoma</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>66773</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.">C0238463</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Neoplastic Process</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The presence of a papillary adenocarcinoma of the thyroid gland.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/66773">Feature record</a> | <a href="/medgen?term=%22Papillary%20thyroid%20carcinoma%22%5BClinical%20Features%5D%20OR%2066773%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_677074"><div><strong>Multiple lipomas</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>677074</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.">C0745730</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The presence of multiple lipomas (a type of benign tissue made of fatty tissue).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/677074">Feature record</a> | <a href="/medgen?term=%22Multiple%20lipomas%22%5BClinical%20Features%5D%20OR%20677074%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1054917"><div><strong>Gastrointestinal desmoid tumor</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1054917</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier assigned by MedGen (starting with CN) for terms that cannot be identified in NLM's Unified Medical Language system (UMLS) Click for more information.">CN378841</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Benign, slow-growing tumors without any metastatic potential. Despite their benign nature, they can damage nearby structures causing organ dysfunction. Histologically they resemble low-grade fibrosarcomas, but they are very locally aggressive and tend to recur even after complete resection. There is a tendency for recurrence in the setting of prior surgery and the most common localisation of these tumors is intraabdominal from smooth muscle cells of the instestine.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1054917">Feature record</a> | <a href="/medgen?term=%22Gastrointestinal%20desmoid%20tumor%22%5BClinical%20Features%5D%20OR%201054917%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_45181"><div><strong>Odontoma</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>45181</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.">C0028882</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Neoplastic Process</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The presence of an odontoma.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/45181">Feature record</a> | <a href="/medgen?term=%22Odontoma%22%5BClinical%20Features%5D%20OR%2045181%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_68629"><div><strong>Gastric polyposis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>68629</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.">C0236048</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A polyp that arises from the stomach. This category includes neoplastic polyps (intestinal-type adenomatous polyps, gastric-type adenomas, and fundic gland polyps), and non-neoplastic polyps (hyperplastic polyps and hamartomatous polyps).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/68629">Feature record</a> | <a href="/medgen?term=%22Gastric%20polyposis%22%5BClinical%20Features%5D%20OR%2068629%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_488924"><div><strong>Duodenal polyposis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>488924</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.">C0578477</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Neoplastic Process</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Presence of multiple polyps in the duodenum.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/488924">Feature record</a> | <a href="/medgen?term=%22Duodenal%20polyposis%22%5BClinical%20Features%5D%20OR%20488924%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_356894"><div><strong>Small intestine carcinoid</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>356894</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.">C1868072</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/356894">Feature record</a> | <a href="/medgen?term=%22Small%20intestine%20carcinoid%22%5BClinical%20Features%5D%20OR%20356894%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_438"><div><strong>Astrocytoma</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>438</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.">C0004114</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Neoplastic Process</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Astrocytoma is a neoplasm of the central nervous system derived from astrocytes. Astrocytes are a type of glial cell, and thus astrocytoma is a subtype of glioma.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/438">Feature record</a> | <a href="/medgen?term=%22Astrocytoma%22%5BClinical%20Features%5D%20OR%20438%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_7517"><div><strong>Medulloblastoma</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>7517</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.">C0025149</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Neoplastic Process</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Medulloblastoma is the most common brain tumor in children. It accounts for 16% of all pediatric brain tumors, and 40% of all cerebellar tumors in childhood are medulloblastoma. Medulloblastoma occurs bimodally, with peak incidences between 3 and 4 years and 8 and 9 years of age. Approximately 10 to 15% of medulloblastomas are diagnosed in infancy. Medulloblastoma accounts for less than 1% of central nervous system (CNS) tumors in adults, with highest incidence in adults 20 to 34 years of age. In 1 to 2% of patients, medulloblastoma is associated with Gorlin syndrome (109400), a nevoid basal carcinoma syndrome. Medulloblastoma also occurs in up to 40% of patients with Turcot syndrome (see 276300). Medulloblastoma is thought to arise from neural stem cell precursors in the granular cell layer of the cerebellum. Standard treatment includes surgery, chemotherapy, and, depending on the age of the patient, radiation therapy (Crawford et al., 2007). Millard and De Braganca (2016) reviewed the histopathologic variants and molecular subgroups of medulloblastoma. Pretreatment prognosis of medulloblastoma has been refined by histopathologic subclassification into the following variants: large-cell medulloblastoma, anaplastic medulloblastoma, desmoplastic/nodular medulloblastoma, and medulloblastoma with extensive nodularity (MBEN). The latter 2 groups have been shown to have a significantly superior prognosis as compared to the large cell and anaplastic groups in young children. At the molecular level, medulloblastomas have been categorized into the following subgroups: wingless (WNT), sonic hedgehog (SHH), group 3, and group 4. Each subgroup is characterized by a unique set of genetics and gene expression as well as demographic and clinical features.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/7517">Feature record</a> | <a href="/medgen?term=%22Medulloblastoma%22%5BClinical%20Features%5D%20OR%207517%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_7197"><div><strong>Keloid</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>7197</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.">C0022548</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Acquired Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An irregularly shaped, elevated mark on the skin caused by deposits of excessive amounts of collagen during wound healing. It extends beyond the original boundaries of the wound and may enlarge progressively.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen?term=%22Keloid%22%5BClinical%20Features%5D%20OR%207197%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_18220"><div><strong>Osteoma</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>18220</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.">C0029440</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Neoplastic Process</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Osteomas are bony growths found most commonly on the skull and mandible; however, they may occur in any bone of the body. Osteomas do not usually cause clinical problems and do not become malignant.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/18220">Feature record</a> | <a href="/medgen?term=%22Osteoma%22%5BClinical%20Features%5D%20OR%2018220%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_8288"><div><strong>Carious teeth</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>8288</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.">C0011334</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Caries is a multifactorial bacterial infection affecting the structure of the tooth. This term has been used to describe the presence of more than expected dental caries.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/8288">Feature record</a> | <a href="/medgen?term=%22Carious%20teeth%22%5BClinical%20Features%5D%20OR%208288%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_21210"><div><strong>Teeth, supernumerary</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>21210</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.">C0040457</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Anatomical Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The presence of one or more teeth additional to the normal number.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/21210">Feature record</a> | <a href="/medgen?term=%22Teeth%2C%20supernumerary%22%5BClinical%20Features%5D%20OR%2021210%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_11856"><div><strong>Eruption failure</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>11856</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.">C0040458</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A tooth which does not erupt within the teeth eruption timeline and after the loss of eruption potential.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/11856">Feature record</a> | <a href="/medgen?term=%22Eruption%20failure%22%5BClinical%20Features%5D%20OR%2011856%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_41829"><div><strong>Epidermoid cysts</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>41829</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.">C0014511</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Anatomical Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Nontender, round and firm, but slightly compressible, intradermal or subcutaneous cyst measuring 0.5-5 cm in diameter. Epidermal cysts are intradermal or subcutaneous tumors, grow slowly and occur on the face, neck, back and scrotum. They usually appear at or around puberty, and as a rule an affected individual has one solitary or a few cysts.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/41829">Feature record</a> | <a href="/medgen?term=%22Epidermoid%20cysts%22%5BClinical%20Features%5D%20OR%2041829%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_57992"><div><strong>Hyperpigmentation of the skin</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>57992</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.">C0162834</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Pathologic Function</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A darkening of the skin related to an increase in melanin production and deposition.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/57992">Feature record</a> | <a href="/medgen?term=%22Hyperpigmentation%20of%20the%20skin%22%5BClinical%20Features%5D%20OR%2057992%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_64231"><div><strong>Fibroadenoma of the breast</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>64231</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.">C0178421</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Neoplastic Process</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A benign biphasic tumor of the breast with epithelial and stromal components.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/64231">Feature record</a> | <a href="/medgen?term=%22Fibroadenoma%20of%20the%20breast%22%5BClinical%20Features%5D%20OR%2064231%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_83290"><div><strong>Congenital hypertrophy of retinal pigment epithelium</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>83290</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.">C0339555</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Sharply demarcated, congenital hyperpigmentation of the retinal pigment epithelium.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/83290">Feature record</a> | <a href="/medgen?term=%22Congenital%20hypertrophy%20of%20retinal%20pigment%20epithelium%22%5BClinical%20Features%5D%20OR%2083290%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 head or neck</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_8288" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Carious teeth</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_11856" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Eruption failure</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_21210" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Teeth, supernumerary</a></span></li></ul></li><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_64231" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Fibroadenoma of the breast</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_488924" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Duodenal polyposis</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_68629" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Gastric polyposis</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_45181" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Odontoma</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_356894" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Small intestine carcinoid</a></span></li></ul></li><li><span class="TLline">Abnormality of the eye</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_83290" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Congenital hypertrophy of retinal pigment epithelium</a></span></li></ul></li><li><span class="TLline">Abnormality of the integument</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_41829" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Epidermoid cysts</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_57992" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hyperpigmentation of the skin</a></span></li></ul></li><li><span class="TLline">Abnormality of the musculoskeletal system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_7197" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Keloid</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_18220" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Osteoma</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_438" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Astrocytoma</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_7517" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Medulloblastoma</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_104917" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Adrenal cortex carcinoma</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_61654" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Adrenocortical adenoma</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_2867" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Carcinoma</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_42016" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Fibroma</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1054917" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Gastrointestinal desmoid tumor</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_61644" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hepatoblastoma</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_677074" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Multiple lipomas</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_66773" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Papillary thyroid carcinoma</a></span></li></ul></li></ul></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/34666312">NCCN Guidelines® Insights: Genetic/Familial High-Risk Assessment: Colorectal, Version 1.2021.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Weiss JM,
|
||
Gupta S,
|
||
Burke CA,
|
||
Axell L,
|
||
Chen LM,
|
||
Chung DC,
|
||
Clayback KM,
|
||
Dallas S,
|
||
Felder S,
|
||
Gbolahan O,
|
||
Giardiello FM,
|
||
Grady W,
|
||
Hall MJ,
|
||
Hampel H,
|
||
Hodan R,
|
||
Idos G,
|
||
Kanth P,
|
||
Katona B,
|
||
Lamps L,
|
||
Llor X,
|
||
Lynch PM,
|
||
Markowitz AJ,
|
||
Pirzadeh-Miller S,
|
||
Samadder NJ,
|
||
Shibata D,
|
||
Swanson BJ,
|
||
Szymaniak BM,
|
||
Wiesner GL,
|
||
Wolf A,
|
||
Yurgelun MB,
|
||
Zakhour M,
|
||
Darlow SD,
|
||
Dwyer MA,
|
||
Campbell M</span><br />
|
||
<span class="medgenPMjournal">J Natl Compr Canc Netw</span>
|
||
2021 Oct 15;19(10):1122-1132.
|
||
doi: 10.1164/jnccn.2021.0048.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34666312" target="_blank">34666312</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31342472">Endoscopic management of polyposis syndromes: European Society of Gastrointestinal Endoscopy (ESGE) Guideline.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">van Leerdam ME,
|
||
Roos VH,
|
||
van Hooft JE,
|
||
Dekker E,
|
||
Jover R,
|
||
Kaminski MF,
|
||
Latchford A,
|
||
Neumann H,
|
||
Pellisé M,
|
||
Saurin JC,
|
||
Tanis PJ,
|
||
Wagner A,
|
||
Balaguer F,
|
||
Ricciardiello L</span><br />
|
||
<span class="medgenPMjournal">Endoscopy</span>
|
||
2019 Sep;51(9):877-895.
|
||
Epub 2019 Jul 23
|
||
doi: 10.1055/a-0965-0605.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31342472" target="_blank">31342472</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%201)%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 (363)</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>
|
||
<div class="nl"><a target="_blank" href="/pubmed/21368914">Clinical utility gene card for: familial adenomatous polyposis (FAP) and attenuated FAP (AFAP).</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Aretz S,
|
||
Vasen HF,
|
||
Olschwang S</span><br />
|
||
<span class="medgenPMjournal">Eur J Hum Genet</span>
|
||
2011 Jul;19(7)
|
||
Epub 2011 Feb 2
|
||
doi: 10.1038/ejhg.2011.7.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21368914" target="_blank">21368914</a><a href="/pmc/articles/PMC3137508" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=" title="PubMed search"></a></div><h3 class="nl vspace"><a href="https://www.nccn.org/professionals/physician_gls/pdf/colon.pdf" target="_blank">NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines®) Colon Cancer, 2024</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>
|
||
<h3 class="nl vspace"><a href="https://www.acmg.net/PDFLibrary/Colon-Cancer.pdf" target="_blank">American College of Medical Genetics and Genomics Family History ACT Sheet, Colon Cancer (Asymptomatic), 2012</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_114">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Suggested_Reading">Suggested Reading</h1><a sid="114" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">PubMed</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/26389258">Cancer Genetics Risk Assessment and Counseling (PDQ®): Health Professional Version.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">PDQ Cancer Genetics Editorial Board</span><br />
|
||
|
||
2002
|
||
<span class="bold">PMID: </span><a href="/pubmed/26389258" target="_blank">26389258</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=" title="PubMed search"></a></div></div>
|
||
</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/33814312">Histologic heterogeneity and syndromic associations of non-ampullary duodenal polyps and superficial mucosal lesions.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Carbone R,
|
||
Rovedatti L,
|
||
Lenti MV,
|
||
Furlan D,
|
||
Errichiello E,
|
||
Gana S,
|
||
Luinetti O,
|
||
Arpa G,
|
||
Alvisi C,
|
||
De Grazia F,
|
||
Valente EM,
|
||
Sessa F,
|
||
Paulli M,
|
||
Vanoli A,
|
||
Di Sabatino A</span><br />
|
||
<span class="medgenPMjournal">Dig Liver Dis</span>
|
||
2021 Dec;53(12):1647-1654.
|
||
Epub 2021 Apr 1
|
||
doi: 10.1016/j.dld.2021.03.011.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33814312" target="_blank">33814312</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25664711">Is it really small-bowel obstruction in patients with paradox after IPAA?</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Silva-Velazco J,
|
||
Hull TL,
|
||
Stocchi L,
|
||
Gorgun E</span><br />
|
||
<span class="medgenPMjournal">Dis Colon Rectum</span>
|
||
2015 Mar;58(3):328-32.
|
||
doi: 10.1097/DCR.0000000000000264.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25664711" target="_blank">25664711</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21887555">Single incision laparoscopic colorectal surgery: a single surgeon experience of 102 consecutive cases.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Geisler D,
|
||
Garrett T</span><br />
|
||
<span class="medgenPMjournal">Tech Coloproctol</span>
|
||
2011 Dec;15(4):397-401.
|
||
Epub 2011 Sep 2
|
||
doi: 10.1007/s10151-011-0756-7.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21887555" target="_blank">21887555</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/17200375">Explaining the familial colorectal cancer risk associated with mismatch repair (MMR)-deficient and MMR-stable tumors.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Aaltonen L,
|
||
Johns L,
|
||
Järvinen H,
|
||
Mecklin JP,
|
||
Houlston R</span><br />
|
||
<span class="medgenPMjournal">Clin Cancer Res</span>
|
||
2007 Jan 1;13(1):356-61.
|
||
doi: 10.1158/1078-0432.CCR-06-1256.
|
||
<span class="bold">PMID: </span><a href="/pubmed/17200375" target="_blank">17200375</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Familial%20adenomatous%20polyposis%201%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 (4)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/33814312">Histologic heterogeneity and syndromic associations of non-ampullary duodenal polyps and superficial mucosal lesions.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Carbone R,
|
||
Rovedatti L,
|
||
Lenti MV,
|
||
Furlan D,
|
||
Errichiello E,
|
||
Gana S,
|
||
Luinetti O,
|
||
Arpa G,
|
||
Alvisi C,
|
||
De Grazia F,
|
||
Valente EM,
|
||
Sessa F,
|
||
Paulli M,
|
||
Vanoli A,
|
||
Di Sabatino A</span><br />
|
||
<span class="medgenPMjournal">Dig Liver Dis</span>
|
||
2021 Dec;53(12):1647-1654.
|
||
Epub 2021 Apr 1
|
||
doi: 10.1016/j.dld.2021.03.011.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33814312" target="_blank">33814312</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25664711">Is it really small-bowel obstruction in patients with paradox after IPAA?</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Silva-Velazco J,
|
||
Hull TL,
|
||
Stocchi L,
|
||
Gorgun E</span><br />
|
||
<span class="medgenPMjournal">Dis Colon Rectum</span>
|
||
2015 Mar;58(3):328-32.
|
||
doi: 10.1097/DCR.0000000000000264.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25664711" target="_blank">25664711</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21887555">Single incision laparoscopic colorectal surgery: a single surgeon experience of 102 consecutive cases.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Geisler D,
|
||
Garrett T</span><br />
|
||
<span class="medgenPMjournal">Tech Coloproctol</span>
|
||
2011 Dec;15(4):397-401.
|
||
Epub 2011 Sep 2
|
||
doi: 10.1007/s10151-011-0756-7.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21887555" target="_blank">21887555</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/17200375">Explaining the familial colorectal cancer risk associated with mismatch repair (MMR)-deficient and MMR-stable tumors.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Aaltonen L,
|
||
Johns L,
|
||
Järvinen H,
|
||
Mecklin JP,
|
||
Houlston R</span><br />
|
||
<span class="medgenPMjournal">Clin Cancer Res</span>
|
||
2007 Jan 1;13(1):356-61.
|
||
doi: 10.1158/1078-0432.CCR-06-1256.
|
||
<span class="bold">PMID: </span><a href="/pubmed/17200375" target="_blank">17200375</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Familial%20adenomatous%20polyposis%201%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 (4)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/25664711">Is it really small-bowel obstruction in patients with paradox after IPAA?</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Silva-Velazco J,
|
||
Hull TL,
|
||
Stocchi L,
|
||
Gorgun E</span><br />
|
||
<span class="medgenPMjournal">Dis Colon Rectum</span>
|
||
2015 Mar;58(3):328-32.
|
||
doi: 10.1097/DCR.0000000000000264.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25664711" target="_blank">25664711</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Familial%20adenomatous%20polyposis%201%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 (1)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/21887555">Single incision laparoscopic colorectal surgery: a single surgeon experience of 102 consecutive cases.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Geisler D,
|
||
Garrett T</span><br />
|
||
<span class="medgenPMjournal">Tech Coloproctol</span>
|
||
2011 Dec;15(4):397-401.
|
||
Epub 2011 Sep 2
|
||
doi: 10.1007/s10151-011-0756-7.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21887555" target="_blank">21887555</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Familial%20adenomatous%20polyposis%201%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 (1)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/7627934">A search for double minute chromosomes in cultured lymphocytes from different types of tumors.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Scappaticci S,
|
||
Fossati GS,
|
||
Valenti L,
|
||
Scabini M,
|
||
Tateo S,
|
||
Nastasi G,
|
||
Spina MP,
|
||
Capra E</span><br />
|
||
<span class="medgenPMjournal">Cancer Genet Cytogenet</span>
|
||
1995 Jul 1;82(1):50-3.
|
||
doi: 10.1016/0165-4608(94)00288-m.
|
||
<span class="bold">PMID: </span><a href="/pubmed/7627934" target="_blank">7627934</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Familial%20adenomatous%20polyposis%201%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 (1)</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=C2713442%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (95)</a></li>
|
||
<li><a href="/gtr/tests?term=C2713442%5bDISCUI%5d&filter=method%3A1%5F3" target="_blank">Immunohistochemistry (1)</a></li>
|
||
<li><a href="/gtr/tests?term=C2713442%5bDISCUI%5d&filter=method%3A2%5F15" target="_blank">Methylation analysis (1)</a></li>
|
||
<li><a href="/gtr/tests?term=C2713442%5bDISCUI%5d&filter=method%3A2%5F17" target="_blank">Mutation scanning of the entire coding region (1)</a></li>
|
||
<li><a href="/gtr/tests?term=C2713442%5bDISCUI%5d&filter=method%3A2%5F30" target="_blank">RNA analysis (4)</a></li>
|
||
<li><a href="/gtr/tests?term=C2713442%5bDISCUI%5d&filter=method%3A2%5F9" target="_blank">Sequence analysis of select exons (8)</a></li>
|
||
<li><a href="/gtr/tests?term=C2713442%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (106)</a></li>
|
||
<li><a href="/gtr/tests?term=C2713442%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (14)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C2713442%5bDISCUI%5d" target="_blank">See all (128)</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=175100" target="_blank">OMIM</a></li><li><a href="https://clinicaltrials.gov/search?cond=Familial%20adenomatous%20polyposis%201" 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%201)%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%201%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.nccn.org/professionals/physician_gls/pdf/colon.pdf">NCCN, 2024</a><div>NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines®) Colon Cancer, 2024</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><li><a target="_blank" href="https://www.acmg.net/PDFLibrary/Colon-Cancer.pdf">ACMG ACT, 2012</a><div>American College of Medical Genetics and Genomics Family History ACT Sheet, Colon Cancer (Asymptomatic), 2012</div></li><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov//21368914/">EuroGenetest, 2011</a><div>Clinical utility gene card for: familial adenomatous polyposis (FAP) and attenuated FAP (AFAP).</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=611731" target="_blank">OMIM</a></li><li><a href="/clinvar/?term=324[geneid]" target="_blank">View APC variations in ClinVar</a></li><li><a href="/nuccore/299116992" target="_blank">RefSeqGene</a></li><li><a href="https://catalog.coriell.org/Search?q=175100" 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_1" 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%201" target="_blank">MedlinePlus</a></li><li><a href="https://medlineplus.gov/genetics/condition/familial-adenomatous-polyposis" target="_blank">MedlinePlusGenetics (GHR)</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/20301519" 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%201" 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%201%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>
|
||
|
||
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<h3>Related information</h3>
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<div class="ralinkpop offscreen_noflow">Homo sapiens APC regulator of WNT signaling pathway (APC), RefSeqGene (LRG_130) on chromosome 5<div class="brieflinkpopdesc">gi|299116992|ref|NG_008481.4||gnl|L G_130</div></div>
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