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|
||
<!--
|
||
UID=2839
|
||
ConceptID=C0007102
|
||
-->
|
||
<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Colon cancer</div></h1><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><table class="medgenTable"><tbody><tr><td>Synonym:</td>
|
||
<td>Malignant tumor of colon</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>CA - Cancer of colon (363406005); Cancer of colon (363406005); Malignant neoplasm of colon (363406005); Malignant tumor of colon (363406005)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>HPO:</td>
|
||
<td><a target="_blank" title="Human Phenotype Ontology" href="https://hpo.jax.org/app/browse/term/HP:0003003">HP:0003003</a></td></tr>
|
||
<tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0021063" target="_blank">MONDO:0021063</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/114500" target="_blank">114500</a>; <a href="https://omim.org/entry/191170" target="_blank">191170</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_100">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Definition">Definition</h1><a sid="100" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">A primary or metastatic malignant neoplasm that affects the colon. Representative examples include carcinoma, lymphoma, and sarcoma. [from <a title="NCI Thesaurus" href="http://ncit.nci.nih.gov" class="defSource" target="_blank">NCI</a>]</div>
|
||
</div>
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|
||
<div class="portlet mgSection" id="ID_118">
|
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<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="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0009404[DISCUI]&test_type=Clinical" ref="ncbi_uid=3171">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=3171" ref="ncbi_uid=3171">V</a></span></span><span class="TLline"><a href="/medgen/3171" ref="tree=GTR&ncbi_uid=3171&link_uid=3171" title="View MedGen record for 'Neoplasm of the large intestine'">Neoplasm of the large intestine</a></span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/91125" ref="tree=GTR&ncbi_uid=91125&link_uid=91125" title="View MedGen record for 'Benign neoplasm of large intestine'">Benign neoplasm of large intestine</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0346629[DISCUI]&test_type=Clinical" ref="ncbi_uid=83428">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1211/" ref="ncbi_uid=83428">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=83428" ref="ncbi_uid=83428">V</a></span></span><span class="TLline"><a href="/medgen/83428" ref="tree=GTR&ncbi_uid=83428&link_uid=83428" title="View MedGen record for 'Colorectal cancer'">Colorectal cancer</a></span><ul><li class="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0007102[DISCUI]&test_type=Clinical" ref="ncbi_uid=2839">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=2839" target="_blank" href="/omim/114500">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=2839" ref="ncbi_uid=2839">V</a></span></span><span class="TLline">Colon cancer</span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0699790[DISCUI]&test_type=Clinical" ref="ncbi_uid=147065">C</a></span><span class="chiclet Rcolor round" title="Research test"><a target="_blank" href="/gtr/tests/?term=C0699790[DISCUI]&test_type=Research" ref="ncbi_uid=147065">R</a></span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1211/" ref="ncbi_uid=147065">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=147065" ref="ncbi_uid=147065">V</a></span></span><span class="TLline"><a href="/medgen/147065" ref="tree=GTR&ncbi_uid=147065&link_uid=147065" title="View MedGen record for 'Carcinoma of colon'">Carcinoma of colon</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/101033" ref="tree=GTR&ncbi_uid=101033&link_uid=101033" title="View MedGen record for 'Colon lymphoma'">Colon lymphoma</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/272493" ref="tree=GTR&ncbi_uid=272493&link_uid=272493" title="View MedGen record for 'Colon sarcoma'">Colon sarcoma</a></span></li></ul></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0009402[DISCUI]&test_type=Clinical" ref="ncbi_uid=3170">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=3170" target="_blank" href="/omim/114500">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=3170" ref="ncbi_uid=3170">V</a></span></span><span class="TLline"><a href="/medgen/3170" ref="tree=GTR&ncbi_uid=3170&link_uid=3170" title="View MedGen record for 'Colorectal carcinoma'">Colorectal carcinoma</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/474455" ref="tree=GTR&ncbi_uid=474455&link_uid=474455" title="View MedGen record for 'Colorectal lymphoma'">Colorectal lymphoma</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=CN280943[DISCUI]&test_type=Clinical" ref="ncbi_uid=965772">C</a></span><span class="chiclet Rcolor round" title="Research test"><a target="_blank" href="/gtr/tests/?term=CN280943[DISCUI]&test_type=Research&redirect=true" ref="ncbi_uid=965772">R</a></span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=965772" ref="ncbi_uid=965772">V</a></span></span><span class="TLline"><a href="/medgen/965772" ref="tree=GTR&ncbi_uid=965772&link_uid=965772" title="View MedGen record for 'Familial colorectal cancer'">Familial colorectal cancer</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0949022[DISCUI]&test_type=Clinical&redirect=true" ref="ncbi_uid=181763">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/181763" ref="tree=GTR&ncbi_uid=181763&link_uid=181763" title="View MedGen record for 'Malignant tumor of rectum'">Malignant tumor of rectum</a></span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0007113[DISCUI]&test_type=Clinical&redirect=true" ref="ncbi_uid=40100">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/40100" ref="tree=GTR&ncbi_uid=40100&link_uid=40100" title="View MedGen record for 'Rectal carcinoma'">Rectal carcinoma</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/233393" ref="tree=GTR&ncbi_uid=233393&link_uid=233393" title="View MedGen record for 'Rectum lymphoma'">Rectum lymphoma</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/277577" ref="tree=GTR&ncbi_uid=277577&link_uid=277577" title="View MedGen record for 'Rectum sarcoma'">Rectum sarcoma</a></span></li></ul></li></ul></li></ul></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/232130" ref="tree=MeSH" title="MedGen record for Disorder by Site">Disorder by Site</a></span><ul><li><span class="TLline"><a href="/medgen/8970" ref="tree=MeSH" title="MedGen record for Disorder of gastrointestinal tract">Disorder of gastrointestinal tract</a></span><ul><li><span class="TLline"><a href="/medgen/7130" ref="tree=MeSH" title="MedGen record for Intestinal disorder">Intestinal disorder</a></span><ul><li><span class="TLline"><a href="/medgen/1049" ref="tree=MeSH" title="MedGen record for Colonic disorder">Colonic disorder</a></span><ul><li><span class="TLline"><a href="/medgen/3171" ref="tree=MeSH" title="MedGen record for Neoplasm of the large intestine">Neoplasm of the large intestine</a></span><ul><li><span class="TLline"><a href="/medgen/3165" ref="tree=MeSH" title="MedGen record for Colonic neoplasm">Colonic neoplasm</a></span><ul><li><span class="matched_ds">Colon cancer</span><ul><li><span class="TLline"><a href="/medgen/147065" ref="tree=MeSH" title="MedGen record for Carcinoma of colon">Carcinoma of colon</a></span><ul><li><span class="TLline"><a href="/medgen/232083" ref="tree=MeSH" title="MedGen record for Adenosquamous colon carcinoma">Adenosquamous colon carcinoma</a></span></li><li><span class="TLline"><a href="/medgen/101762" ref="tree=MeSH" title="MedGen record for Cecum carcinoma">Cecum carcinoma</a></span><ul><li><span class="TLline"><a href="/medgen/83854" ref="tree=MeSH" title="MedGen record for Carcinoma in situ of cecum">Carcinoma in situ of cecum</a></span></li><li><span class="TLline"><a href="/medgen/234098" ref="tree=MeSH" title="MedGen record for Cecum adenocarcinoma">Cecum adenocarcinoma</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/137834" ref="tree=MeSH" title="MedGen record for Colon adenocarcinoma">Colon adenocarcinoma</a></span><ul><li><span class="TLline"><a href="/medgen/474446" ref="tree=MeSH" title="MedGen record for Colon Cribriform Comedo-Type Adenocarcinoma">Colon Cribriform Comedo-Type Adenocarcinoma</a></span></li><li><span class="TLline"><a href="/medgen/310620" ref="tree=MeSH" title="MedGen record for Colon Intramucosal Adenocarcinoma">Colon Intramucosal Adenocarcinoma</a></span></li><li><span class="TLline"><a href="/medgen/363630" ref="tree=MeSH" title="MedGen record for Colon medullary carcinoma">Colon medullary carcinoma</a></span></li><li><span class="TLline"><a href="/medgen/474449" ref="tree=MeSH" title="MedGen record for Colon Micropapillary Adenocarcinoma">Colon Micropapillary Adenocarcinoma</a></span></li><li><span class="TLline"><a href="/medgen/76007" ref="tree=MeSH" title="MedGen record for Colon mucinous adenocarcinoma">Colon mucinous adenocarcinoma</a></span></li><li><span class="TLline"><a href="/medgen/474443" ref="tree=MeSH" title="MedGen record for Colon Serrated Adenocarcinoma">Colon Serrated Adenocarcinoma</a></span></li><li><span class="TLline"><a href="/medgen/313039" ref="tree=MeSH" title="MedGen record for Colon signet ring cell adenocarcinoma">Colon signet ring cell adenocarcinoma</a></span></li><li><span class="TLline"><a href="/medgen/272681" ref="tree=MeSH" title="MedGen record for Grade 1 Colon Adenocarcinoma">Grade 1 Colon Adenocarcinoma</a></span></li><li><span class="TLline"><a href="/medgen/232252" ref="tree=MeSH" title="MedGen record for Grade 2 Colon Adenocarcinoma">Grade 2 Colon Adenocarcinoma</a></span></li><li><span class="TLline"><a href="/medgen/234319" ref="tree=MeSH" title="MedGen record for Grade 3 Colon Adenocarcinoma">Grade 3 Colon Adenocarcinoma</a></span></li><li><span class="TLline"><a href="/medgen/1685225" ref="tree=MeSH" title="MedGen record for Metastatic Colon Adenocarcinoma">Metastatic Colon Adenocarcinoma</a></span></li><li><span class="TLline"><a href="/medgen/1687816" ref="tree=MeSH" title="MedGen record for Recurrent Colon Adenocarcinoma">Recurrent Colon Adenocarcinoma</a></span></li><li><span class="TLline"><a href="/medgen/1707710" ref="tree=MeSH" title="MedGen record for Refractory Colon Adenocarcinoma">Refractory Colon Adenocarcinoma</a></span></li><li><span class="TLline"><a href="/medgen/271523" ref="tree=MeSH" title="MedGen record for Submucosal invasive colon adenocarcinoma">Submucosal invasive colon adenocarcinoma</a></span></li><li><span class="TLline"><a href="/medgen/1705920" ref="tree=MeSH" title="MedGen record for Unresectable Colon Adenocarcinoma">Unresectable Colon Adenocarcinoma</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/455933" ref="tree=MeSH" title="MedGen record for Colon Cancer by AJCC v6 Stage">Colon Cancer by AJCC v6 Stage</a></span><ul><li><span class="TLline"><a href="/medgen/167826" ref="tree=MeSH" title="MedGen record for Carcinoma of colon, stage IV">Carcinoma of colon, stage IV</a></span></li><li><span class="TLline"><a href="/medgen/1620570" ref="tree=MeSH" title="MedGen record for Stage 0 Colon Cancer AJCC v6 and v7">Stage 0 Colon Cancer AJCC v6 and v7</a></span></li><li><span class="TLline"><a href="/medgen/1614934" ref="tree=MeSH" title="MedGen record for Stage I Colon Cancer AJCC v6 and v7">Stage I Colon Cancer AJCC v6 and v7</a></span></li><li><span class="TLline"><a href="/medgen/78837" ref="tree=MeSH" title="MedGen record for Stage II Colon Cancer AJCC v6">Stage II Colon Cancer AJCC v6</a></span></li><li><span class="TLline"><a href="/medgen/75823" ref="tree=MeSH" title="MedGen record for Stage III Colon Cancer AJCC v6">Stage III Colon Cancer AJCC v6</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/456315" ref="tree=MeSH" title="MedGen record for Colon Cancer by AJCC v7 Stage">Colon Cancer by AJCC v7 Stage</a></span><ul><li><span class="TLline"><a href="/medgen/459985" ref="tree=MeSH" title="MedGen record for Stage II Colon Cancer AJCC v7">Stage II Colon Cancer AJCC v7</a></span></li><li><span class="TLline"><a href="/medgen/459982" ref="tree=MeSH" title="MedGen record for Stage III Colon Cancer AJCC v7">Stage III Colon Cancer AJCC v7</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1619899" ref="tree=MeSH" title="MedGen record for Colon Cancer by AJCC v8 Stage">Colon Cancer by AJCC v8 Stage</a></span><ul><li><span class="TLline"><a href="/medgen/1625268" ref="tree=MeSH" title="MedGen record for Stage 0 Colon Cancer AJCC v8">Stage 0 Colon Cancer AJCC v8</a></span></li><li><span class="TLline"><a href="/medgen/1626297" ref="tree=MeSH" title="MedGen record for Stage I Colon Cancer AJCC v8">Stage I Colon Cancer AJCC v8</a></span></li><li><span class="TLline"><a href="/medgen/1617457" ref="tree=MeSH" title="MedGen record for Stage II Colon Cancer AJCC v8">Stage II Colon Cancer AJCC v8</a></span></li><li><span class="TLline"><a href="/medgen/1623702" ref="tree=MeSH" title="MedGen record for Stage III Colon Cancer AJCC v8">Stage III Colon Cancer AJCC v8</a></span></li><li><span class="TLline"><a href="/medgen/1620934" ref="tree=MeSH" title="MedGen record for Stage IV Colon Cancer AJCC v8">Stage IV Colon Cancer AJCC v8</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1730673" ref="tree=MeSH" title="MedGen record for Colon Large Cell Neuroendocrine Carcinoma">Colon Large Cell Neuroendocrine Carcinoma</a></span></li><li><span class="TLline"><a href="/medgen/232087" ref="tree=MeSH" title="MedGen record for Colon small cell neuroendocrine carcinoma">Colon small cell neuroendocrine carcinoma</a></span></li><li><span class="TLline"><a href="/medgen/76008" ref="tree=MeSH" title="MedGen record for Colon Undifferentiated Carcinoma">Colon Undifferentiated Carcinoma</a></span></li><li><span class="TLline"><a href="/medgen/1717725" ref="tree=MeSH" title="MedGen record for Hereditary Colon Carcinoma">Hereditary Colon Carcinoma</a></span></li><li><span class="TLline"><a href="/medgen/1649079" ref="tree=MeSH" title="MedGen record for Metastatic Colon Carcinoma">Metastatic Colon Carcinoma</a></span><ul><li><span class="TLline"><a href="/medgen/1712846" ref="tree=MeSH" title="MedGen record for Advanced Colon Carcinoma">Advanced Colon Carcinoma</a></span></li><li><span class="TLline"><a href="/medgen/234159" ref="tree=MeSH" title="MedGen record for Colon Carcinoma Metastatic in the Liver">Colon Carcinoma Metastatic in the Liver</a></span></li><li><span class="TLline"><a href="/medgen/455364" ref="tree=MeSH" title="MedGen record for Colon Carcinoma Metastatic in the Lung">Colon Carcinoma Metastatic in the Lung</a></span></li><li><span class="TLline"><a href="/medgen/1759831" ref="tree=MeSH" title="MedGen record for Locally Advanced Colon Carcinoma">Locally Advanced Colon Carcinoma</a></span></li><li><span class="TLline"><a href="/medgen/1791350" ref="tree=MeSH" title="MedGen record for Metastatic Microsatellite Stable Colon Carcinoma">Metastatic Microsatellite Stable Colon Carcinoma</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1791055" ref="tree=MeSH" title="MedGen record for Microsatellite Stable Colon Carcinoma">Microsatellite Stable Colon Carcinoma</a></span></li><li><span class="TLline"><a href="/medgen/82939" ref="tree=MeSH" title="MedGen record for Recurrent Colon Carcinoma">Recurrent Colon Carcinoma</a></span></li><li><span class="TLline"><a href="/medgen/1663185" ref="tree=MeSH" title="MedGen record for Refractory Colon Carcinoma">Refractory Colon Carcinoma</a></span></li><li><span class="TLline"><a href="/medgen/1710884" ref="tree=MeSH" title="MedGen record for Resectable Colon Carcinoma">Resectable Colon Carcinoma</a></span></li><li><span class="TLline"><a href="/medgen/155572" ref="tree=MeSH" title="MedGen record for Sigmoid Colon Carcinoma">Sigmoid Colon Carcinoma</a></span></li><li><span class="TLline"><a href="/medgen/272494" ref="tree=MeSH" title="MedGen record for Squamous cell carcinoma of colon">Squamous cell carcinoma of colon</a></span></li><li><span class="TLline"><a href="/medgen/1792785" ref="tree=MeSH" title="MedGen record for Unresectable Colon Carcinoma">Unresectable Colon Carcinoma</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/57557" ref="tree=MeSH" title="MedGen record for Cecum cancer">Cecum cancer</a></span><ul><li><span class="TLline"><a href="/medgen/232035" ref="tree=MeSH" title="MedGen record for Cecum lymphoma">Cecum lymphoma</a></span><ul><li><span class="TLline"><a href="/medgen/232036" ref="tree=MeSH" title="MedGen record for Cecum Non-Hodgkin Lymphoma">Cecum Non-Hodgkin Lymphoma</a></span></li></ul></li></ul></li><li><span class="TLline"><a href="/medgen/101033" ref="tree=MeSH" title="MedGen record for Colon lymphoma">Colon lymphoma</a></span><ul><li><span class="TLline"><a href="/medgen/232377" ref="tree=MeSH" title="MedGen record for Colon Hodgkin Lymphoma">Colon Hodgkin Lymphoma</a></span></li><li><span class="TLline"><a href="/medgen/155459" ref="tree=MeSH" title="MedGen record for Colon Non-Hodgkin Lymphoma">Colon Non-Hodgkin Lymphoma</a></span><ul><li><span class="TLline"><a href="/medgen/272491" ref="tree=MeSH" title="MedGen record for Colon Burkitt lymphoma">Colon Burkitt lymphoma</a></span></li><li><span class="TLline"><a href="/medgen/474461" ref="tree=MeSH" title="MedGen record for Colon Diffuse Large B-Cell Lymphoma">Colon Diffuse Large B-Cell Lymphoma</a></span></li><li><span class="TLline"><a href="/medgen/234161" ref="tree=MeSH" title="MedGen record for Colon Mantle Cell Lymphoma">Colon Mantle Cell Lymphoma</a></span></li><li><span class="TLline"><a href="/medgen/272492" ref="tree=MeSH" title="MedGen record for Colon mucosa-associated lymphoid tissue lymphoma">Colon mucosa-associated lymphoid tissue lymphoma</a></span></li></ul></li></ul></li><li><span class="TLline"><a href="/medgen/272493" ref="tree=MeSH" title="MedGen record for Colon sarcoma">Colon sarcoma</a></span><ul><li><span class="TLline"><a href="/medgen/232378" ref="tree=MeSH" title="MedGen record for Colon Kaposi sarcoma">Colon Kaposi sarcoma</a></span></li><li><span class="TLline"><a href="/medgen/232380" ref="tree=MeSH" title="MedGen record for Colon leiomyosarcoma">Colon leiomyosarcoma</a></span></li><li><span class="TLline"><a href="/medgen/1649670" ref="tree=MeSH" title="MedGen record for Colon Liposarcoma">Colon Liposarcoma</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/83432" ref="tree=MeSH" title="MedGen record for Metastatic malignant neoplasm in the colon">Metastatic malignant neoplasm in the colon</a></span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Conditions_with_this_feature">Conditions with this feature</h1><a sid="112" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="divPopper rprt" id="rdis_18013"><div><strong>Neurofibromatosis, type 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>18013</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.">C0027831</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Neoplastic Process</dd></dl></div></div></div>
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<div class="spaceAbove">Neurofibromatosis 1 (NF1) is a multisystem disorder characterized by multiple café au lait macules, intertriginous freckling, multiple cutaneous neurofibromas, and learning disability or behavior problems. About half of people with NF1 have plexiform neurofibromas, but most are internal and not suspected clinically. Plexiform neurofibromas can cause pain, neurologic deficits, and abnormalities of involved or adjacent structures. Less common but potentially more serious manifestations include optic nerve and other central nervous system gliomas, malignant peripheral nerve sheath tumors, scoliosis, tibial dysplasia, vasculopathy, and gastrointestinal, endocrine, or pulmonary disease.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/18013">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_87518"><div><strong>Juvenile polyposis syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>87518</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.">C0345893</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Neoplastic Process</dd></dl></div></div></div>
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<div class="spaceAbove">Juvenile polyposis syndrome (JPS) is characterized by predisposition to hamartomatous polyps in the gastrointestinal (GI) tract, specifically in the stomach, small intestine, colon, and rectum. The term "juvenile" refers to the type of polyp rather than to the age of onset of polyps. Most individuals with JPS have some polyps by age 20 years; some may have only four or five polyps over their lifetime, whereas others in the same family may have more than 100. If the polyps are left untreated, they may cause bleeding and anemia. Most juvenile polyps are benign; however, malignant transformation can occur. Risk for GI cancers ranges from 11% to 86%. Most of this increased risk is attributed to colon cancer, but cancers of the stomach, upper GI tract, and pancreas have also been reported. A combined syndrome of JPS and hereditary hemorrhagic telangiectasia (HHT) is present in most individuals with an SMAD4 pathogenic variant.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/87518">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_231157"><div><strong>Muir-Torré syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>231157</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.">C1321489</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Neoplastic Process</dd></dl></div></div></div>
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<div class="spaceAbove">Lynch syndrome is characterized by an increased risk for colorectal cancer (CRC) and cancers of the endometrium, ovary, stomach, small bowel, urinary tract, biliary tract, brain (usually glioblastoma), skin (sebaceous adenomas, sebaceous carcinomas, and keratoacanthomas), pancreas, and prostate. Cancer risks and age of onset vary depending on the associated gene. Several other cancer types have been reported to occur in individuals with Lynch syndrome (e.g., breast, sarcomas, adrenocortical carcinoma). However, the data are not sufficient to demonstrate that the risk of developing these cancers is increased in individuals with Lynch syndrome.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/231157">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_232603"><div><strong>Colorectal cancer, hereditary nonpolyposis, type 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>232603</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.">C1333991</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Lynch syndrome is characterized by an increased risk for colorectal cancer (CRC) and cancers of the endometrium, ovary, stomach, small bowel, urinary tract, biliary tract, brain (usually glioblastoma), skin (sebaceous adenomas, sebaceous carcinomas, and keratoacanthomas), pancreas, and prostate. Cancer risks and age of onset vary depending on the associated gene. Several other cancer types have been reported to occur in individuals with Lynch syndrome (e.g., breast, sarcomas, adrenocortical carcinoma). However, the data are not sufficient to demonstrate that the risk of developing these cancers is increased in individuals with Lynch syndrome.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/232603">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_322656"><div><strong>Li-Fraumeni syndrome 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>322656</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.">C1835398</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with high risks for a broad spectrum of cancers including early-onset cancers. Five cancer types account for the majority of LFS tumors: adrenocortical carcinomas, breast cancer, central nervous system tumors, osteosarcomas, and soft-tissue sarcomas. Other cancers associated with LFS include leukemia, colorectal cancer, stomach cancer, lung cancer, melanoma, pediatric head and neck cancers, pancreatic cancer, and prostate cancer. Cancer survivors are at increased risk for developing additional primary cancers and treatment-related secondary cancers. The lifetime risks of cancer for women and men with classic LFS are 90% and 70%, respectively, and 50% of cancers occur prior to age 40 years.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/322656">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_324868"><div><strong>Oligodontia-cancer predisposition syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>324868</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.">C1837750</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Neoplastic Process</dd></dl></div></div></div>
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<div class="spaceAbove">Oligodontia-cancer predisposition syndrome is a rare, genetic, odontologic disease characterized by congenital absence of six or more permanent teeth (excluding the third molars) in association with an increased risk for malignancies, ranging from gastrointestinal polyposis to early-onset colorectal cancer and/or breast cancer. Ectodermal dysplasia (manifesting with sparse hair and/or eyebrows) may also be associated.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/324868">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_338210"><div><strong>Desmoid disease, hereditary</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>338210</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.">C1851124</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">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.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/338210">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_383699"><div><strong>Leukemia, acute myelocytic, with polyposis coli and colon cancer</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>383699</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.">C1855505</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Neoplastic Process</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/383699">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_350500"><div><strong>Polyposis syndrome, hereditary mixed, 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>350500</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:">C1864730</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Hereditary mixed polyposis syndrome-2 (HMPS2) is characterized by colonic polyps of mixed hyperplastic, adenomatous, and occasional juvenile types. Polyposis eventually progresses to colorectal cancer (Cao et al., 2006). For a discussion of genetic heterogeneity of HMPS, see HMPS1 (601228).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/350500">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_390966"><div><strong>Diamond-Blackfan anemia 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>390966</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.">C2676137</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Diamond-Blackfan anemia (DBA) is characterized by a profound normochromic and usually macrocytic anemia with normal leukocytes and platelets, congenital malformations in up to 50%, and growth deficiency in 30% of affected individuals. The hematologic complications occur in 90% of affected individuals during the first year of life. The phenotypic spectrum ranges from a mild form (e.g., mild anemia or no anemia with only subtle erythroid abnormalities, physical malformations without anemia) to a severe form of fetal anemia resulting in nonimmune hydrops fetalis. DBA is associated with an increased risk for acute myelogenous leukemia (AML), myelodysplastic syndrome (MDS), and solid tumors including osteogenic sarcoma.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/390966">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_436866"><div><strong>Colorectal cancer, susceptibility to, 3</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>436866</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.">C2677123</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Any colorectal cancer in which the cause of the disease is a mutation in the SMAD7 gene.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/436866">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_398651"><div><strong>Familial adenomatous polyposis 1</strong><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.">C2713442</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">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.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/398651">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_412966"><div><strong>Lynch syndrome 8</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>412966</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.">C2750471</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Lynch syndrome is characterized by an increased risk for colorectal cancer (CRC) and cancers of the endometrium, ovary, stomach, small bowel, urinary tract, biliary tract, brain (usually glioblastoma), skin (sebaceous adenomas, sebaceous carcinomas, and keratoacanthomas), pancreas, and prostate. Cancer risks and age of onset vary depending on the associated gene. Several other cancer types have been reported to occur in individuals with Lynch syndrome (e.g., breast, sarcomas, adrenocortical carcinoma). However, the data are not sufficient to demonstrate that the risk of developing these cancers is increased in individuals with Lynch syndrome.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/412966">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_423615"><div><strong>Lynch syndrome 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>423615</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.">C2936783</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Lynch syndrome is characterized by an increased risk for colorectal cancer (CRC) and cancers of the endometrium, ovary, stomach, small bowel, urinary tract, biliary tract, brain (usually glioblastoma), skin (sebaceous adenomas, sebaceous carcinomas, and keratoacanthomas), pancreas, and prostate. Cancer risks and age of onset vary depending on the associated gene. Several other cancer types have been reported to occur in individuals with Lynch syndrome (e.g., breast, sarcomas, adrenocortical carcinoma). However, the data are not sufficient to demonstrate that the risk of developing these cancers is increased in individuals with Lynch syndrome.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/423615">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_474474"><div><strong>Familial adenomatous polyposis 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>474474</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.">C3272841</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Neoplastic Process</dd></dl></div></div></div>
|
||
<div class="spaceAbove">MUTYH polyposis (also referred to as MUTYH-associated polyposis, or MAP) is characterized by a greatly increased lifetime risk of colorectal cancer (CRC). Although typically associated with ten to a few hundred colonic adenomatous polyps, CRC develops in some individuals in the absence of polyposis. Serrated adenomas, hyperplastic/sessile serrated polyps, and mixed (hyperplastic and adenomatous) polyps can also occur. Duodenal adenomas are common, with an increased risk of duodenal cancer. The risk for malignancies of the ovary and bladder is also increased, and there is some evidence of an increased risk for breast and endometrial cancer. Additional reported features include thyroid nodules, benign adrenal lesions, jawbone cysts, and congenital hypertrophy of the retinal pigment epithelium.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/474474">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_902388"><div><strong>Familial adenomatous polyposis 3</strong><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.">C4225157</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">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%.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/902388">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_934648"><div><strong>Ehlers-Danlos syndrome, periodontal type 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>934648</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.">C4310681</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Periodontal Ehlers-Danlos syndrome (pEDS) is characterized by distinct oral manifestations. Periodontal tissue breakdown beginning in the teens results in premature loss of teeth. Lack of attached gingiva and thin and fragile gums lead to gingival recession. Connective tissue abnormalities of pEDS typically include easy bruising, pretibial plaques, distal joint hypermobility, hoarse voice, and less commonly manifestations such as organ or vessel rupture. Since the first descriptions of pEDS in the 1970s, 148 individuals have been reported in the literature; however, future in-depth descriptions of non-oral manifestations in newly diagnosed individuals with a molecularly confirmed diagnosis of pEDS will be important to further define the clinical features.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/934648">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1750327"><div><strong>Mismatch repair cancer syndrome 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1750327</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.">C5436806</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Mismatch repair cancer syndrome-2 (MMRCS2) is an autosomal recessive childhood cancer predisposition syndrome characterized by hematologic malignancy, brain tumors, and gastrointestinal tumors. Multiple cafe-au-lait spots reminiscent of neurofibromatosis type I (NF1; 162200) may be present. Microsatellite instability may be detected in tumor samples (Muller et al., 2006). For a discussion of genetic heterogeneity of mismatch repair cancer syndrome (MMRCS), see MMRCS1 (276300).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1750327">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1733656"><div><strong>Mismatch repair cancer syndrome 3</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1733656</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.">C5436807</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Mismatch repair cancer syndrome-3 (MMRCS3) is an autosomal recessive childhood cancer predisposition syndrome characterized by brain tumors, hematologic malignancy, and gastrointestinal tumors. Multiple cafe-au-lait spots, axillary freckling, and, rarely, Lisch nodules reminiscent of neurofibromatosis type I (NF1; 162200) may be present (Hegde et al., 2005, Ostergaard et al., 2005). Microsatellite instability may be detected in tumor samples (Hegde et al., 2005). For a discussion of genetic heterogeneity of mismatch repair cancer syndrome, see MMRCS1 (276300).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1733656">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1745382"><div><strong>Mismatch repair cancer syndrome 4</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1745382</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.">C5436817</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Mismatch repair cancer syndrome-4 (MMRCS4) is an autosomal recessive childhood cancer predisposition syndrome characterized by early-onset leukemia/lymphoma, brain tumors, colorectal/gastrointestinal cancers, and other rare malignancies, including rhabdomyosarcoma (summary by Li et al., 2015). Cafe-au-lait spots are usually present (De Vos et al., 2006). For a discussion of genetic heterogeneity of mismatch repair cancer syndrome, see MMRCS1 (276300).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1745382">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1823959"><div><strong>Tumor predisposition syndrome 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1823959</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.">C5774186</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Tumor predisposition syndrome-2 (TPDS2) is an autosomal recessive cancer predisposition syndrome characterized by the onset of various types of tumors or malignancies in young adulthood. The most common clinical manifestations include acute myeloid leukemia (AML), myelodysplastic syndrome, colorectal adenomatous polyposis and carcinoma, and uveal melanoma, although other tumors and malignancies have been reported (summary by Palles et al., 2022). For a discussion of genetic heterogeneity of TPDS, see TPDS1 (614327).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1823959">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1051978"><div><strong>Birt-Hogg-Dube syndrome 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1051978</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.">CN375946</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The clinical characteristics of Birt-Hogg-Dubé syndrome (BHDS) include cutaneous manifestations (fibrofolliculomas, acrochordons, angiofibromas, oral papules, cutaneous collagenomas, and epidermal cysts), pulmonary cysts / history of pneumothorax, renal cysts, and various types of renal tumors. Disease severity can vary significantly even within the same family. Skin lesions typically appear between the second and fourth decades of life and typically increase in size and number with age. Lung cysts are mainly in the basal lung regions; most individuals are asymptomatic but at high risk for spontaneous pneumothorax. Renal tumors can be bilateral and multifocal. The most common renal tumors are a hybrid of oncocytoma and chromophobe histologic cell types (oncocytic hybrid tumor); clear cell carcinoma and oncocytoma are also common.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1051978">Condition Record</a></div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1051978" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Birt-Hogg-Dube syndrome 1</a></div>
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||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_232603" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Colorectal cancer, hereditary nonpolyposis, type 2</a></div>
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||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_436866" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Colorectal cancer, susceptibility to, 3</a></div>
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||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_338210" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Desmoid disease, hereditary</a></div>
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||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_390966" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Diamond-Blackfan anemia 1</a></div><div class="jig-moreless" data-jigconfig="class: 'moveDown', moreText: 'See full list (22)', lessText: 'Show less', nodeBefore: 0"><span id="clinMore">
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_934648" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Ehlers-Danlos syndrome, periodontal type 2</a></div>
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||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_398651" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Familial adenomatous polyposis 1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_474474" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Familial adenomatous polyposis 2</a></div>
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||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_902388" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Familial adenomatous polyposis 3</a></div>
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||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_87518" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Juvenile polyposis syndrome</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_383699" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Leukemia, acute myelocytic, with polyposis coli and colon cancer</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_322656" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Li-Fraumeni syndrome 1</a></div>
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||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_423615" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Lynch syndrome 1</a></div>
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||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_412966" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Lynch syndrome 8</a></div>
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||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1750327" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Mismatch repair cancer syndrome 2</a></div>
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||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1733656" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Mismatch repair cancer syndrome 3</a></div>
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||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1745382" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Mismatch repair cancer syndrome 4</a></div>
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||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_231157" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Muir-Torré syndrome</a></div>
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||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_18013" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Neurofibromatosis, type 1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_324868" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Oligodontia-cancer predisposition syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_350500" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Polyposis syndrome, hereditary mixed, 2</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1823959" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Tumor predisposition syndrome 2</a></div></span></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/34775402">The American Society of Colon and Rectal Surgeons Clinical Practice Guidelines for the Management of Colon Cancer.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Vogel JD,
|
||
Felder SI,
|
||
Bhama AR,
|
||
Hawkins AT,
|
||
Langenfeld SJ,
|
||
Shaffer VO,
|
||
Thorsen AJ,
|
||
Weiser MR,
|
||
Chang GJ,
|
||
Lightner AL,
|
||
Feingold DL,
|
||
Paquette IM</span><br />
|
||
<span class="medgenPMjournal">Dis Colon Rectum</span>
|
||
2022 Feb 1;65(2):148-177.
|
||
doi: 10.1097/DCR.0000000000002323.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34775402" target="_blank">34775402</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33406487">Genetic/Familial High-Risk Assessment: Breast, Ovarian, and Pancreatic, Version 2.2021, NCCN Clinical Practice Guidelines in Oncology.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Daly MB,
|
||
Pal T,
|
||
Berry MP,
|
||
Buys SS,
|
||
Dickson P,
|
||
Domchek SM,
|
||
Elkhanany A,
|
||
Friedman S,
|
||
Goggins M,
|
||
Hutton ML;
|
||
CGC,
|
||
Karlan BY,
|
||
Khan S,
|
||
Klein C,
|
||
Kohlmann W;
|
||
CGC,
|
||
Kurian AW,
|
||
Laronga C,
|
||
Litton JK,
|
||
Mak JS;
|
||
LCGC,
|
||
Menendez CS,
|
||
Merajver SD,
|
||
Norquist BS,
|
||
Offit K,
|
||
Pederson HJ,
|
||
Reiser G;
|
||
CGC,
|
||
Senter-Jamieson L;
|
||
CGC,
|
||
Shannon KM,
|
||
Shatsky R,
|
||
Visvanathan K,
|
||
Weitzel JN,
|
||
Wick MJ,
|
||
Wisinski KB,
|
||
Yurgelun MB,
|
||
Darlow SD,
|
||
Dwyer MA</span><br />
|
||
<span class="medgenPMjournal">J Natl Compr Canc Netw</span>
|
||
2021 Jan 6;19(1):77-102.
|
||
doi: 10.6004/jnccn.2021.0001.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33406487" target="_blank">33406487</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/18313537">Pathophysiology, clinical presentation, and management of colon cancer.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cappell MS</span><br />
|
||
<span class="medgenPMjournal">Gastroenterol Clin North Am</span>
|
||
2008 Mar;37(1):1-24, v.
|
||
doi: 10.1016/j.gtc.2007.12.002.
|
||
<span class="bold">PMID: </span><a href="/pubmed/18313537" target="_blank">18313537</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22colon%20cancer%22%5Btiab%3A~0%5D)%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 (1758)</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.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/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_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/35729033">Clinical Updates for Colon Cancer Care in 2022.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Fabregas JC,
|
||
Ramnaraign B,
|
||
George TJ</span><br />
|
||
<span class="medgenPMjournal">Clin Colorectal Cancer</span>
|
||
2022 Sep;21(3):198-203.
|
||
Epub 2022 Jun 3
|
||
doi: 10.1016/j.clcc.2022.05.006.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35729033" target="_blank">35729033</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35339846">Colon cancer diagnosis and staging classification based on machine learning and bioinformatics analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Su Y,
|
||
Tian X,
|
||
Gao R,
|
||
Guo W,
|
||
Chen C,
|
||
Chen C,
|
||
Jia D,
|
||
Li H,
|
||
Lv X</span><br />
|
||
<span class="medgenPMjournal">Comput Biol Med</span>
|
||
2022 Jun;145:105409.
|
||
Epub 2022 Mar 19
|
||
doi: 10.1016/j.compbiomed.2022.105409.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35339846" target="_blank">35339846</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29632055">NCCN Guidelines Insights: Colon Cancer, Version 2.2018.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Benson AB,
|
||
Venook AP,
|
||
Al-Hawary MM,
|
||
Cederquist L,
|
||
Chen YJ,
|
||
Ciombor KK,
|
||
Cohen S,
|
||
Cooper HS,
|
||
Deming D,
|
||
Engstrom PF,
|
||
Garrido-Laguna I,
|
||
Grem JL,
|
||
Grothey A,
|
||
Hochster HS,
|
||
Hoffe S,
|
||
Hunt S,
|
||
Kamel A,
|
||
Kirilcuk N,
|
||
Krishnamurthi S,
|
||
Messersmith WA,
|
||
Meyerhardt J,
|
||
Miller ED,
|
||
Mulcahy MF,
|
||
Murphy JD,
|
||
Nurkin S,
|
||
Saltz L,
|
||
Sharma S,
|
||
Shibata D,
|
||
Skibber JM,
|
||
Sofocleous CT,
|
||
Stoffel EM,
|
||
Stotsky-Himelfarb E,
|
||
Willett CG,
|
||
Wuthrick E,
|
||
Gregory KM,
|
||
Freedman-Cass DA</span><br />
|
||
<span class="medgenPMjournal">J Natl Compr Canc Netw</span>
|
||
2018 Apr;16(4):359-369.
|
||
doi: 10.6004/jnccn.2018.0021.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29632055" target="_blank">29632055</a><a href="/pmc/articles/PMC10184502" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/18313537">Pathophysiology, clinical presentation, and management of colon cancer.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cappell MS</span><br />
|
||
<span class="medgenPMjournal">Gastroenterol Clin North Am</span>
|
||
2008 Mar;37(1):1-24, v.
|
||
doi: 10.1016/j.gtc.2007.12.002.
|
||
<span class="bold">PMID: </span><a href="/pubmed/18313537" target="_blank">18313537</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/12489270">Modifiable risk factors for colon cancer.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Giovannucci E</span><br />
|
||
<span class="medgenPMjournal">Gastroenterol Clin North Am</span>
|
||
2002 Dec;31(4):925-43.
|
||
doi: 10.1016/s0889-8553(02)00057-2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/12489270" target="_blank">12489270</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Colon%20cancer%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 (16783)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/36483562">Predictive biomarkers of colon cancer immunotherapy: Present and future.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hou W,
|
||
Yi C,
|
||
Zhu H</span><br />
|
||
<span class="medgenPMjournal">Front Immunol</span>
|
||
2022;13:1032314.
|
||
Epub 2022 Nov 22
|
||
doi: 10.3389/fimmu.2022.1032314.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36483562" target="_blank">36483562</a><a href="/pmc/articles/PMC9722772" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35729033">Clinical Updates for Colon Cancer Care in 2022.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Fabregas JC,
|
||
Ramnaraign B,
|
||
George TJ</span><br />
|
||
<span class="medgenPMjournal">Clin Colorectal Cancer</span>
|
||
2022 Sep;21(3):198-203.
|
||
Epub 2022 Jun 3
|
||
doi: 10.1016/j.clcc.2022.05.006.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35729033" target="_blank">35729033</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35183412">Chemokines in colon cancer progression.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Jia SN,
|
||
Han YB,
|
||
Yang R,
|
||
Yang ZC</span><br />
|
||
<span class="medgenPMjournal">Semin Cancer Biol</span>
|
||
2022 Nov;86(Pt 3):400-407.
|
||
Epub 2022 Feb 7
|
||
doi: 10.1016/j.semcancer.2022.02.007.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35183412" target="_blank">35183412</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29632055">NCCN Guidelines Insights: Colon Cancer, Version 2.2018.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Benson AB,
|
||
Venook AP,
|
||
Al-Hawary MM,
|
||
Cederquist L,
|
||
Chen YJ,
|
||
Ciombor KK,
|
||
Cohen S,
|
||
Cooper HS,
|
||
Deming D,
|
||
Engstrom PF,
|
||
Garrido-Laguna I,
|
||
Grem JL,
|
||
Grothey A,
|
||
Hochster HS,
|
||
Hoffe S,
|
||
Hunt S,
|
||
Kamel A,
|
||
Kirilcuk N,
|
||
Krishnamurthi S,
|
||
Messersmith WA,
|
||
Meyerhardt J,
|
||
Miller ED,
|
||
Mulcahy MF,
|
||
Murphy JD,
|
||
Nurkin S,
|
||
Saltz L,
|
||
Sharma S,
|
||
Shibata D,
|
||
Skibber JM,
|
||
Sofocleous CT,
|
||
Stoffel EM,
|
||
Stotsky-Himelfarb E,
|
||
Willett CG,
|
||
Wuthrick E,
|
||
Gregory KM,
|
||
Freedman-Cass DA</span><br />
|
||
<span class="medgenPMjournal">J Natl Compr Canc Netw</span>
|
||
2018 Apr;16(4):359-369.
|
||
doi: 10.6004/jnccn.2018.0021.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29632055" target="_blank">29632055</a><a href="/pmc/articles/PMC10184502" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/18313537">Pathophysiology, clinical presentation, and management of colon cancer.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cappell MS</span><br />
|
||
<span class="medgenPMjournal">Gastroenterol Clin North Am</span>
|
||
2008 Mar;37(1):1-24, v.
|
||
doi: 10.1016/j.gtc.2007.12.002.
|
||
<span class="bold">PMID: </span><a href="/pubmed/18313537" target="_blank">18313537</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Colon%20cancer%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 (12168)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38108112">Natural orifice specimen extraction surgery versus small-incision assisted laparoscopic radical right hemicolectomy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Yu M,
|
||
Cai Z,
|
||
Zhou H,
|
||
Fingerhut A,
|
||
He Z,
|
||
Xue P,
|
||
Song H,
|
||
Yang X,
|
||
Cheng X,
|
||
Zhang S,
|
||
Xu X,
|
||
Zhong H,
|
||
Abuduaini N,
|
||
Liu J,
|
||
Wang X,
|
||
Feng B</span><br />
|
||
<span class="medgenPMjournal">Future Oncol</span>
|
||
2023 Dec;19(40):2641-2650.
|
||
Epub 2023 Dec 18
|
||
doi: 10.2217/fon-2023-0769.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38108112" target="_blank">38108112</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33945007">Neoadjuvant chemotherapy in locally advanced colon cancer: a systematic review and meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gosavi R,
|
||
Chia C,
|
||
Michael M,
|
||
Heriot AG,
|
||
Warrier SK,
|
||
Kong JC</span><br />
|
||
<span class="medgenPMjournal">Int J Colorectal Dis</span>
|
||
2021 Oct;36(10):2063-2070.
|
||
Epub 2021 May 4
|
||
doi: 10.1007/s00384-021-03945-3.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33945007" target="_blank">33945007</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29590544">Duration of Adjuvant Chemotherapy for Stage III Colon Cancer.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Grothey A,
|
||
Sobrero AF,
|
||
Shields AF,
|
||
Yoshino T,
|
||
Paul J,
|
||
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<div class="portlet mgSection" id="ID_104">
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<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>
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<div class="nl"><a target="_blank" href="/pubmed/33524598">Risk Factors for Early-Onset Colorectal Cancer: A Systematic Review and Meta-analysis.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">O'Sullivan DE,
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<div class="nl"><a target="_blank" href="/pubmed/34455534">Consumption of red meat and processed meat and cancer incidence: a systematic review and meta-analysis of prospective studies.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Farvid MS,
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Sidahmed E,
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Spence ND,
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<div class="nl"><a target="_blank" href="/pubmed/33945007">Neoadjuvant chemotherapy in locally advanced colon cancer: a systematic review and meta-analysis.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Gosavi R,
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Chia C,
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Michael M,
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Heriot AG,
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<span class="bold">PMID: </span><a href="/pubmed/33945007" target="_blank">33945007</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/28205448">Association between red meat consumption and colon cancer: A systematic review of experimental results.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Turner ND,
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Colon%20cancer%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 (439)</a></div></div>
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<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C0007102%5bDISCUI%5d&filter=method%3A2%5F15" target="_blank">Methylation analysis (1)</a></li>
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<li><a href="/gtr/tests?term=C0007102%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (3)</a></li>
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<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22colon%20cancer%22%5Btiab%3A~0%5D)%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(%22Colon%20cancer%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/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></ul></div>
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