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<meta name="keywords" content="C1833477, colorectal cancer, hereditary nonpolyposis, type 5, disease or syndrome, hereditary non-polyposis colorectal cancer, type 5, hereditary nonpolyposis colon cancer caused by mutation in msh6, hnpcc5, lynch syndrome 5, lynch5, msh6, msh6 hereditary nonpolyposis colon cancer, 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="Lynch syndrome-5 (LYNCH5), or hereditary nonpolyposis colorectal cancer type 5 (HNPCC5), is a cancer predisposition syndrome characterized by onset of colorectal cancer and/or extracolonic cancers, particularly endometrial cancer, usually in mid-adulthood. The disorder shows autosomal dominant inheritance with incomplete penetrance (summary by Castellsague et al., 2015). For a general phenotypic description and a discussion of genetic heterogeneity of Lynch syndrome, see 120435." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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UID=318886
|
||
ConceptID=C1833477
|
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Lynch syndrome 5<span class="h1sub">(LYNCH5)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>318886</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:">C1833477</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>Colorectal cancer, hereditary nonpolyposis, type 5; Hereditary non-polyposis colorectal cancer, type 5; LYNCH5</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="MSH6 - ID: 2956 - NCBI Gene" href="/gene/2956" class="medgenPMinfo">MSH6</a> (2p16.3)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0013710" target="_blank">MONDO:0013710</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/614350" target="_blank">614350</a></td></tr>
|
||
</tbody></table></div><div class="rprt-body jig-ncbiinpagenav" data-jigconfig="smoothScroll: false, gotoTopLink: true, gotoTopLinkText: '', gotoTopLinkAttrs: {'title': 'Go to the top of the page'},allHeadingLevels: ['h1'], topOfPageTOC: true, tocId: 'my-toc'"><div id="rprt-tabs-1" class="rprt-tab"><div id="tb-termsProp-1"><div class="leftCol mgCol"><div>
|
||
<div class="portlet mgSection" id="ID_100">
|
||
<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">Lynch syndrome-5 (LYNCH5), or hereditary nonpolyposis colorectal cancer type 5 (HNPCC5), is a cancer predisposition syndrome characterized by onset of colorectal cancer and/or extracolonic cancers, particularly endometrial cancer, usually in mid-adulthood. The disorder shows autosomal dominant inheritance with incomplete penetrance (summary by Castellsague et al., 2015). For a general phenotypic description and a discussion of genetic heterogeneity of Lynch syndrome, see 120435. [from <a title="Online Mendelian Inheritance in Man" href="http://www.omim.org" class="defSource" target="_blank">OMIM</a>]</div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_117">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Additional_description">Additional description</h1><a sid="117" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><div class="mgSection"><strong>From MedlinePlus Genetics</strong><br />Lynch syndrome, often called hereditary nonpolyposis colorectal cancer (HNPCC), is an inherited disorder that increases the risk of many types of cancer, particularly cancers of the colon (large intestine) and rectum, which are collectively referred to as colorectal cancer. People with Lynch syndrome also have an increased risk of cancers of the stomach, small intestine, liver, gallbladder ducts, urinary tract, brain, and skin. Additionally, women with this disorder have a high risk of cancer of the ovaries and lining of the uterus (endometrial cancer). Women with Lynch syndrome have a higher overall risk of developing cancer than men with the condition because of these cancers of the female reproductive system. In individuals with Lynch syndrome who develop cancer, the cancer typically occurs in their forties or fifties.<br /><br />People with Lynch syndrome may occasionally have noncancerous (benign) growths in the colon, called colon polyps. In individuals with this disorder, colon polyps occur at a younger age but not in greater numbers than they do in the general population. <a target="_blank" href="https://medlineplus.gov/genetics/condition/lynch-syndrome">https://medlineplus.gov/genetics/condition/lynch-syndrome</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_102">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_features">Clinical features</h1><a sid="102" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln clinfeat"><strong>From HPO</strong><br />
|
||
<div class="divPopper rprt" id="clin_181539"><div><strong>Ovarian neoplasm</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>181539</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.">C0919267</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Neoplastic Process</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A tumor (abnormal growth of tissue) of the ovary.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/181539">Feature record</a> | <a href="/medgen?term=%22Ovarian%20neoplasm%22%5BClinical%20Features%5D%20OR%20181539%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_96903"><div><strong>Endometrial carcinoma</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>96903</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0476089</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Neoplastic Process</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A carcinoma of the endometrium, the mucous lining of the uterus.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/96903">Feature record</a> | <a href="/medgen?term=%22Endometrial%20carcinoma%22%5BClinical%20Features%5D%20OR%2096903%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_18279"><div><strong>Neoplasm of the pancreas</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>18279</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.">C0030297</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Neoplastic Process</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A tumor (abnormal growth of tissue) of the pancreas.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/18279">Feature record</a> | <a href="/medgen?term=%22Neoplasm%20of%20the%20pancreas%22%5BClinical%20Features%5D%20OR%2018279%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_870541"><div><strong>Hereditary nonpolyposis colorectal carcinoma</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>870541</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.">C4024989</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Neoplastic Process</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/870541">Feature record</a> | <a href="/medgen?term=%22Hereditary%20nonpolyposis%20colorectal%20carcinoma%22%5BClinical%20Features%5D%20OR%20870541%5Buid%5D">Search on this feature</a></div></div><div class="TreeLite" data-jigconfig="closed: 1"><div class="concept-def"><a class="small" href="#" onclick="jQuery(".TreeLite","#ID_102").TreeLite().openAll(); return false;">Show all</a><a class="small" href="#" onclick="jQuery(".TreeLite","#ID_102").TreeLite().closeAll(); return false;">Hide all</a></div><ul><li><span class="TLline">Abnormality of the digestive system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_870541" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hereditary nonpolyposis colorectal carcinoma</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_18279" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Neoplasm of the pancreas</a></span></li></ul></li><li><span class="TLline">Abnormality of the genitourinary system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_96903" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Endometrial carcinoma</a></span></li></ul></li><li><span class="TLline">Neoplasm</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_181539" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Ovarian neoplasm</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/36115290">Deficient mismatch repair/microsatellite unstable colorectal cancer: Diagnosis, prognosis and treatment.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Taieb J,
|
||
Svrcek M,
|
||
Cohen R,
|
||
Basile D,
|
||
Tougeron D,
|
||
Phelip JM</span><br />
|
||
<span class="medgenPMjournal">Eur J Cancer</span>
|
||
2022 Nov;175:136-157.
|
||
Epub 2022 Sep 14
|
||
doi: 10.1016/j.ejca.2022.07.020.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36115290" target="_blank">36115290</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34043773">European guidelines from the EHTG and ESCP for Lynch syndrome: an updated third edition of the Mallorca guidelines based on gene and gender.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Seppälä TT,
|
||
Latchford A,
|
||
Negoi I,
|
||
Sampaio Soares A,
|
||
Jimenez-Rodriguez R,
|
||
Sánchez-Guillén L,
|
||
Evans DG,
|
||
Ryan N,
|
||
Crosbie EJ,
|
||
Dominguez-Valentin M,
|
||
Burn J,
|
||
Kloor M,
|
||
Knebel Doeberitz MV,
|
||
Duijnhoven FJBV,
|
||
Quirke P,
|
||
Sampson JR,
|
||
Møller P,
|
||
Möslein G;
|
||
European Hereditary Tumour Group (EHTG) and European Society of Coloproctology (ESCP)</span><br />
|
||
<span class="medgenPMjournal">Br J Surg</span>
|
||
2021 May 27;108(5):484-498.
|
||
doi: 10.1002/bjs.11902.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34043773" target="_blank">34043773</a><a href="/pmc/articles/PMC10364896" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34003218">Screening for Colorectal Cancer: US Preventive Services Task Force Recommendation Statement.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">US Preventive Services Task Force,
|
||
Davidson KW,
|
||
Barry MJ,
|
||
Mangione CM,
|
||
Cabana M,
|
||
Caughey AB,
|
||
Davis EM,
|
||
Donahue KE,
|
||
Doubeni CA,
|
||
Krist AH,
|
||
Kubik M,
|
||
Li L,
|
||
Ogedegbe G,
|
||
Owens DK,
|
||
Pbert L,
|
||
Silverstein M,
|
||
Stevermer J,
|
||
Tseng CW,
|
||
Wong JB</span><br />
|
||
<span class="medgenPMjournal">JAMA</span>
|
||
2021 May 18;325(19):1965-1977.
|
||
doi: 10.1001/jama.2021.6238.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34003218" target="_blank">34003218</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(lynch%20syndrome%205)%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 (218)</a></div><h3 class="subhead">Curated<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpCurated"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3><h3 class="nl vspace"><a href="https://www.nice.org.uk/guidance/ng151" target="_blank">UK NICE Guideline NG151, Colorectal cancer, 2021</a></h3>
|
||
<h3 class="nl vspace"><a href="https://www.nice.org.uk/guidance/dg42" target="_blank">UK NICE Diagnostics Guidance DG42, Testing strategies for Lynch syndrome in people with endometrial cancer, 2020</a></h3>
|
||
<h3 class="nl vspace"><a href="https://www.acmg.net/PDFLibrary/Lynch-Syndrome.pdf" target="_blank">American College of Medical Genetics and Genomics, Genomic Testing (Secondary Findings) ACT Sheet, MLH1, MSH2, MSH6, PMS2, EPCAM Pathogenic Variants, Lynch Syndrome (Hereditary Non-polyposis Colon Cancer [HNPCC]), 2019</a></h3>
|
||
</div>
|
||
</div>
|
||
<div class="display-none help-popup" id="guidelinesHelpPM">These guidelines are articles in PubMed that match specific search criteria developed by MedGen to capture the most relevant practice guidelines. This list may not be comprehensive and may include broader topics as well. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div><div class="display-none help-popup" id="guidelinesHelpCurated">These guidelines are manually curated by the MedGen team
|
||
to supplement articles available in PubMed. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div>
|
||
<div class="portlet mgSection" id="ID_103">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_clinical_studies">Recent clinical studies</h1><a sid="103" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">Etiology</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/34043773">European guidelines from the EHTG and ESCP for Lynch syndrome: an updated third edition of the Mallorca guidelines based on gene and gender.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Seppälä TT,
|
||
Latchford A,
|
||
Negoi I,
|
||
Sampaio Soares A,
|
||
Jimenez-Rodriguez R,
|
||
Sánchez-Guillén L,
|
||
Evans DG,
|
||
Ryan N,
|
||
Crosbie EJ,
|
||
Dominguez-Valentin M,
|
||
Burn J,
|
||
Kloor M,
|
||
Knebel Doeberitz MV,
|
||
Duijnhoven FJBV,
|
||
Quirke P,
|
||
Sampson JR,
|
||
Møller P,
|
||
Möslein G;
|
||
European Hereditary Tumour Group (EHTG) and European Society of Coloproctology (ESCP)</span><br />
|
||
<span class="medgenPMjournal">Br J Surg</span>
|
||
2021 May 27;108(5):484-498.
|
||
doi: 10.1002/bjs.11902.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34043773" target="_blank">34043773</a><a href="/pmc/articles/PMC10364896" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32141610">Molecular pathology of Lynch syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cerretelli G,
|
||
Ager A,
|
||
Arends MJ,
|
||
Frayling IM</span><br />
|
||
<span class="medgenPMjournal">J Pathol</span>
|
||
2020 Apr;250(5):518-531.
|
||
doi: 10.1002/path.5422.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32141610" target="_blank">32141610</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30627969">Recent advances in Lynch syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Biller LH,
|
||
Syngal S,
|
||
Yurgelun MB</span><br />
|
||
<span class="medgenPMjournal">Fam Cancer</span>
|
||
2019 Apr;18(2):211-219.
|
||
doi: 10.1007/s10689-018-00117-1.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30627969" target="_blank">30627969</a><a href="/pmc/articles/PMC6450737" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29169633">Pathology and genetics of hereditary colorectal cancer.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ma H,
|
||
Brosens LAA,
|
||
Offerhaus GJA,
|
||
Giardiello FM,
|
||
de Leng WWJ,
|
||
Montgomery EA</span><br />
|
||
<span class="medgenPMjournal">Pathology</span>
|
||
2018 Jan;50(1):49-59.
|
||
Epub 2017 Nov 21
|
||
doi: 10.1016/j.pathol.2017.09.004.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29169633" target="_blank">29169633</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25980754">Identification of a Variety of Mutations in Cancer Predisposition Genes in Patients With Suspected Lynch Syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Yurgelun MB,
|
||
Allen B,
|
||
Kaldate RR,
|
||
Bowles KR,
|
||
Judkins T,
|
||
Kaushik P,
|
||
Roa BB,
|
||
Wenstrup RJ,
|
||
Hartman AR,
|
||
Syngal S</span><br />
|
||
<span class="medgenPMjournal">Gastroenterology</span>
|
||
2015 Sep;149(3):604-13.e20.
|
||
Epub 2015 May 14
|
||
doi: 10.1053/j.gastro.2015.05.006.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25980754" target="_blank">25980754</a><a href="/pmc/articles/PMC4550537" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Lynch%20syndrome%205%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 (1487)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/36706841">Lynch Syndrome Genetics and Clinical Implications.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Peltomäki P,
|
||
Nyström M,
|
||
Mecklin JP,
|
||
Seppälä TT</span><br />
|
||
<span class="medgenPMjournal">Gastroenterology</span>
|
||
2023 Apr;164(5):783-799.
|
||
Epub 2023 Jan 24
|
||
doi: 10.1053/j.gastro.2022.08.058.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36706841" target="_blank">36706841</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34043773">European guidelines from the EHTG and ESCP for Lynch syndrome: an updated third edition of the Mallorca guidelines based on gene and gender.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Seppälä TT,
|
||
Latchford A,
|
||
Negoi I,
|
||
Sampaio Soares A,
|
||
Jimenez-Rodriguez R,
|
||
Sánchez-Guillén L,
|
||
Evans DG,
|
||
Ryan N,
|
||
Crosbie EJ,
|
||
Dominguez-Valentin M,
|
||
Burn J,
|
||
Kloor M,
|
||
Knebel Doeberitz MV,
|
||
Duijnhoven FJBV,
|
||
Quirke P,
|
||
Sampson JR,
|
||
Møller P,
|
||
Möslein G;
|
||
European Hereditary Tumour Group (EHTG) and European Society of Coloproctology (ESCP)</span><br />
|
||
<span class="medgenPMjournal">Br J Surg</span>
|
||
2021 May 27;108(5):484-498.
|
||
doi: 10.1002/bjs.11902.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34043773" target="_blank">34043773</a><a href="/pmc/articles/PMC10364896" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30627969">Recent advances in Lynch syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Biller LH,
|
||
Syngal S,
|
||
Yurgelun MB</span><br />
|
||
<span class="medgenPMjournal">Fam Cancer</span>
|
||
2019 Apr;18(2):211-219.
|
||
doi: 10.1007/s10689-018-00117-1.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30627969" target="_blank">30627969</a><a href="/pmc/articles/PMC6450737" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25980754">Identification of a Variety of Mutations in Cancer Predisposition Genes in Patients With Suspected Lynch Syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Yurgelun MB,
|
||
Allen B,
|
||
Kaldate RR,
|
||
Bowles KR,
|
||
Judkins T,
|
||
Kaushik P,
|
||
Roa BB,
|
||
Wenstrup RJ,
|
||
Hartman AR,
|
||
Syngal S</span><br />
|
||
<span class="medgenPMjournal">Gastroenterology</span>
|
||
2015 Sep;149(3):604-13.e20.
|
||
Epub 2015 May 14
|
||
doi: 10.1053/j.gastro.2015.05.006.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25980754" target="_blank">25980754</a><a href="/pmc/articles/PMC4550537" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/18602922">The clinical phenotype of Lynch syndrome due to germ-line PMS2 mutations.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Senter L,
|
||
Clendenning M,
|
||
Sotamaa K,
|
||
Hampel H,
|
||
Green J,
|
||
Potter JD,
|
||
Lindblom A,
|
||
Lagerstedt K,
|
||
Thibodeau SN,
|
||
Lindor NM,
|
||
Young J,
|
||
Winship I,
|
||
Dowty JG,
|
||
White DM,
|
||
Hopper JL,
|
||
Baglietto L,
|
||
Jenkins MA,
|
||
de la Chapelle A</span><br />
|
||
<span class="medgenPMjournal">Gastroenterology</span>
|
||
2008 Aug;135(2):419-28.
|
||
Epub 2008 May 2
|
||
doi: 10.1053/j.gastro.2008.04.026.
|
||
<span class="bold">PMID: </span><a href="/pubmed/18602922" target="_blank">18602922</a><a href="/pmc/articles/PMC2759321" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Lynch%20syndrome%205%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 (1457)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/36115290">Deficient mismatch repair/microsatellite unstable colorectal cancer: Diagnosis, prognosis and treatment.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Taieb J,
|
||
Svrcek M,
|
||
Cohen R,
|
||
Basile D,
|
||
Tougeron D,
|
||
Phelip JM</span><br />
|
||
<span class="medgenPMjournal">Eur J Cancer</span>
|
||
2022 Nov;175:136-157.
|
||
Epub 2022 Sep 14
|
||
doi: 10.1016/j.ejca.2022.07.020.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36115290" target="_blank">36115290</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34043773">European guidelines from the EHTG and ESCP for Lynch syndrome: an updated third edition of the Mallorca guidelines based on gene and gender.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Seppälä TT,
|
||
Latchford A,
|
||
Negoi I,
|
||
Sampaio Soares A,
|
||
Jimenez-Rodriguez R,
|
||
Sánchez-Guillén L,
|
||
Evans DG,
|
||
Ryan N,
|
||
Crosbie EJ,
|
||
Dominguez-Valentin M,
|
||
Burn J,
|
||
Kloor M,
|
||
Knebel Doeberitz MV,
|
||
Duijnhoven FJBV,
|
||
Quirke P,
|
||
Sampson JR,
|
||
Møller P,
|
||
Möslein G;
|
||
European Hereditary Tumour Group (EHTG) and European Society of Coloproctology (ESCP)</span><br />
|
||
<span class="medgenPMjournal">Br J Surg</span>
|
||
2021 May 27;108(5):484-498.
|
||
doi: 10.1002/bjs.11902.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34043773" target="_blank">34043773</a><a href="/pmc/articles/PMC10364896" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34003218">Screening for Colorectal Cancer: US Preventive Services Task Force Recommendation Statement.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">US Preventive Services Task Force,
|
||
Davidson KW,
|
||
Barry MJ,
|
||
Mangione CM,
|
||
Cabana M,
|
||
Caughey AB,
|
||
Davis EM,
|
||
Donahue KE,
|
||
Doubeni CA,
|
||
Krist AH,
|
||
Kubik M,
|
||
Li L,
|
||
Ogedegbe G,
|
||
Owens DK,
|
||
Pbert L,
|
||
Silverstein M,
|
||
Stevermer J,
|
||
Tseng CW,
|
||
Wong JB</span><br />
|
||
<span class="medgenPMjournal">JAMA</span>
|
||
2021 May 18;325(19):1965-1977.
|
||
doi: 10.1001/jama.2021.6238.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34003218" target="_blank">34003218</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/30627969">Recent advances in Lynch syndrome.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Biller LH,
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Syngal S,
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<div class="nl"><a target="_blank" href="/pubmed/26903337">Epidemiology, Patterns of Care, and Mortality for Patients With Acute Respiratory Distress Syndrome in Intensive Care Units in 50 Countries.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Bellani G,
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Laffey JG,
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Pham T,
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Gattinoni L,
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van Haren F,
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Larsson A,
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Thompson BT,
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Lynch%20syndrome%205%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 (297)</a></div><h3 class="subhead">Prognosis</h3>
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<div class="nl"><a target="_blank" href="/pubmed/31337882">Cancer risks by gene, age, and gender in 6350 carriers of pathogenic mismatch repair variants: findings from the Prospective Lynch Syndrome Database.</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/27604375">Epidemiology, diagnosis, preoperative evaluation and prognostic assessment of upper-tract urothelial carcinoma (UTUC).</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Soria F,
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Shariat SF,
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Lerner SP,
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Fritsche HM,
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Rink M,
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Kassouf W,
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Spiess PE,
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Lotan Y,
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Ye D,
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Fernández MI,
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Kikuchi E,
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Chade DC,
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Babjuk M,
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Grollman AP,
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Thalmann GN</span><br />
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<span class="medgenPMjournal">World J Urol</span>
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2017 Mar;35(3):379-387.
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<span class="bold">PMID: </span><a href="/pubmed/27604375" target="_blank">27604375</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/27838401">The evolving role of microsatellite instability in colorectal cancer: A review.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Gelsomino F,
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Barbolini M,
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Spallanzani A,
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Pugliese G,
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Cascinu S</span><br />
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<span class="bold">PMID: </span><a href="/pubmed/27838401" target="_blank">27838401</a></div>
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||
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||
<div class="nl"><a target="_blank" href="/pubmed/25980754">Identification of a Variety of Mutations in Cancer Predisposition Genes in Patients With Suspected Lynch Syndrome.</a></div>
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||
<div class="portlet_content ln"><span class="medgenPMauthor">Yurgelun MB,
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Allen B,
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Kaldate RR,
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Bowles KR,
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Judkins T,
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Kaushik P,
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Roa BB,
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Wenstrup RJ,
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Hartman AR,
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Syngal S</span><br />
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<span class="medgenPMjournal">Gastroenterology</span>
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2015 Sep;149(3):604-13.e20.
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<span class="bold">PMID: </span><a href="/pubmed/25980754" target="_blank">25980754</a><a href="/pmc/articles/PMC4550537" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/20420945">Hereditary and familial colon cancer.</a></div>
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||
<div class="portlet_content ln"><span class="medgenPMauthor">Jasperson KW,
|
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Tuohy TM,
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Neklason DW,
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Burt RW</span><br />
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<span class="medgenPMjournal">Gastroenterology</span>
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2010 Jun;138(6):2044-58.
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doi: 10.1053/j.gastro.2010.01.054.
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<span class="bold">PMID: </span><a href="/pubmed/20420945" target="_blank">20420945</a><a href="/pmc/articles/PMC3057468" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Lynch%20syndrome%205%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 (801)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/34043773">European guidelines from the EHTG and ESCP for Lynch syndrome: an updated third edition of the Mallorca guidelines based on gene and gender.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Seppälä TT,
|
||
Latchford A,
|
||
Negoi I,
|
||
Sampaio Soares A,
|
||
Jimenez-Rodriguez R,
|
||
Sánchez-Guillén L,
|
||
Evans DG,
|
||
Ryan N,
|
||
Crosbie EJ,
|
||
Dominguez-Valentin M,
|
||
Burn J,
|
||
Kloor M,
|
||
Knebel Doeberitz MV,
|
||
Duijnhoven FJBV,
|
||
Quirke P,
|
||
Sampson JR,
|
||
Møller P,
|
||
Möslein G;
|
||
European Hereditary Tumour Group (EHTG) and European Society of Coloproctology (ESCP)</span><br />
|
||
<span class="medgenPMjournal">Br J Surg</span>
|
||
2021 May 27;108(5):484-498.
|
||
doi: 10.1002/bjs.11902.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34043773" target="_blank">34043773</a><a href="/pmc/articles/PMC10364896" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27604375">Epidemiology, diagnosis, preoperative evaluation and prognostic assessment of upper-tract urothelial carcinoma (UTUC).</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Soria F,
|
||
Shariat SF,
|
||
Lerner SP,
|
||
Fritsche HM,
|
||
Rink M,
|
||
Kassouf W,
|
||
Spiess PE,
|
||
Lotan Y,
|
||
Ye D,
|
||
Fernández MI,
|
||
Kikuchi E,
|
||
Chade DC,
|
||
Babjuk M,
|
||
Grollman AP,
|
||
Thalmann GN</span><br />
|
||
<span class="medgenPMjournal">World J Urol</span>
|
||
2017 Mar;35(3):379-387.
|
||
Epub 2016 Sep 7
|
||
doi: 10.1007/s00345-016-1928-x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27604375" target="_blank">27604375</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27838401">The evolving role of microsatellite instability in colorectal cancer: A review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gelsomino F,
|
||
Barbolini M,
|
||
Spallanzani A,
|
||
Pugliese G,
|
||
Cascinu S</span><br />
|
||
<span class="medgenPMjournal">Cancer Treat Rev</span>
|
||
2016 Dec;51:19-26.
|
||
Epub 2016 Oct 27
|
||
doi: 10.1016/j.ctrv.2016.10.005.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27838401" target="_blank">27838401</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25980754">Identification of a Variety of Mutations in Cancer Predisposition Genes in Patients With Suspected Lynch Syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Yurgelun MB,
|
||
Allen B,
|
||
Kaldate RR,
|
||
Bowles KR,
|
||
Judkins T,
|
||
Kaushik P,
|
||
Roa BB,
|
||
Wenstrup RJ,
|
||
Hartman AR,
|
||
Syngal S</span><br />
|
||
<span class="medgenPMjournal">Gastroenterology</span>
|
||
2015 Sep;149(3):604-13.e20.
|
||
Epub 2015 May 14
|
||
doi: 10.1053/j.gastro.2015.05.006.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25980754" target="_blank">25980754</a><a href="/pmc/articles/PMC4550537" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/20420945">Hereditary and familial colon cancer.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Jasperson KW,
|
||
Tuohy TM,
|
||
Neklason DW,
|
||
Burt RW</span><br />
|
||
<span class="medgenPMjournal">Gastroenterology</span>
|
||
2010 Jun;138(6):2044-58.
|
||
doi: 10.1053/j.gastro.2010.01.054.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20420945" target="_blank">20420945</a><a href="/pmc/articles/PMC3057468" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Lynch%20syndrome%205%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 (789)</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_104">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_systematic_reviews">Recent systematic reviews</h1><a sid="104" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">
|
||
<div class="nl"><a target="_blank" href="/pubmed/36624813">Unexplained mismatch repair deficiency: Case closed.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Eikenboom EL,
|
||
Moen S,
|
||
van Leeuwen L,
|
||
Geurts-Giele WRR,
|
||
Tops CMJ,
|
||
van Ham TJ,
|
||
Dinjens WNM,
|
||
Dubbink HJ,
|
||
Spaander MCW,
|
||
Wagner A</span><br />
|
||
<span class="medgenPMjournal">HGG Adv</span>
|
||
2023 Jan 12;4(1):100167.
|
||
Epub 2022 Dec 14
|
||
doi: 10.1016/j.xhgg.2022.100167.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36624813" target="_blank">36624813</a><a href="/pmc/articles/PMC9823207" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33887476">Universal Immunohistochemistry for Lynch Syndrome: A Systematic Review and Meta-analysis of 58,580 Colorectal Carcinomas.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Eikenboom EL,
|
||
van der Werf-'t Lam AS,
|
||
Rodríguez-Girondo M,
|
||
Van Asperen CJ,
|
||
Dinjens WNM,
|
||
Hofstra RMW,
|
||
Van Leerdam ME,
|
||
Morreau H,
|
||
Spaander MCW,
|
||
Wagner A,
|
||
Nielsen M</span><br />
|
||
<span class="medgenPMjournal">Clin Gastroenterol Hepatol</span>
|
||
2022 Mar;20(3):e496-e507.
|
||
Epub 2021 Apr 19
|
||
doi: 10.1016/j.cgh.2021.04.021.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33887476" target="_blank">33887476</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34779796">Orthopaedic Management of Loeys-Dietz Syndrome: A Systematic Review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lynch CP,
|
||
Patel M,
|
||
Seeley AH,
|
||
Seeley MA</span><br />
|
||
<span class="medgenPMjournal">J Am Acad Orthop Surg Glob Res Rev</span>
|
||
2021 Nov 15;5(11)
|
||
doi: 10.5435/JAAOSGlobal-D-21-00087.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34779796" target="_blank">34779796</a><a href="/pmc/articles/PMC8594655" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34043773">European guidelines from the EHTG and ESCP for Lynch syndrome: an updated third edition of the Mallorca guidelines based on gene and gender.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Seppälä TT,
|
||
Latchford A,
|
||
Negoi I,
|
||
Sampaio Soares A,
|
||
Jimenez-Rodriguez R,
|
||
Sánchez-Guillén L,
|
||
Evans DG,
|
||
Ryan N,
|
||
Crosbie EJ,
|
||
Dominguez-Valentin M,
|
||
Burn J,
|
||
Kloor M,
|
||
Knebel Doeberitz MV,
|
||
Duijnhoven FJBV,
|
||
Quirke P,
|
||
Sampson JR,
|
||
Møller P,
|
||
Möslein G;
|
||
European Hereditary Tumour Group (EHTG) and European Society of Coloproctology (ESCP)</span><br />
|
||
<span class="medgenPMjournal">Br J Surg</span>
|
||
2021 May 27;108(5):484-498.
|
||
doi: 10.1002/bjs.11902.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34043773" target="_blank">34043773</a><a href="/pmc/articles/PMC10364896" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32012227">Surfactant for pulmonary haemorrhage in neonates.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Aziz A,
|
||
Ohlsson A</span><br />
|
||
<span class="medgenPMjournal">Cochrane Database Syst Rev</span>
|
||
2020 Feb 3;2(2):CD005254.
|
||
doi: 10.1002/14651858.CD005254.pub4.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32012227" target="_blank">32012227</a><a href="/pmc/articles/PMC6996938" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Lynch%20syndrome%205%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 (32)</a></div></div>
|
||
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|
||
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|
||
<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C1833477%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (98)</a></li>
|
||
<li><a href="/gtr/tests?term=C1833477%5bDISCUI%5d&filter=method%3A2%5F15" target="_blank">Methylation analysis (1)</a></li>
|
||
<li><a href="/gtr/tests?term=C1833477%5bDISCUI%5d&filter=method%3A2%5F12" target="_blank">Microsatellite instability testing (MSI) (2)</a></li>
|
||
<li><a href="/gtr/tests?term=C1833477%5bDISCUI%5d&filter=method%3A2%5F17" target="_blank">Mutation scanning of the entire coding region (2)</a></li>
|
||
<li><a href="/gtr/tests?term=C1833477%5bDISCUI%5d&filter=method%3A2%5F30" target="_blank">RNA analysis (5)</a></li>
|
||
<li><a href="/gtr/tests?term=C1833477%5bDISCUI%5d&filter=method%3A2%5F9" target="_blank">Sequence analysis of select exons (6)</a></li>
|
||
<li><a href="/gtr/tests?term=C1833477%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (99)</a></li>
|
||
<li><a href="/gtr/tests?term=C1833477%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (16)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C1833477%5bDISCUI%5d" target="_blank">See all (112)</a></total></li>
|
||
</ul></div>
|
||
</div>
|
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|
||
<div class="portlet mgSection" id="ID_119">
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<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>
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<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=614350" target="_blank">OMIM</a></li><li><a href="https://clinicaltrials.gov/search?cond=Lynch%20syndrome%205" target="_blank">ClinicalTrials.gov</a></li></ul></div>
|
||
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|
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<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>
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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=(lynch%20syndrome%205)%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(%22Lynch%20syndrome%205%22)">Bookshelf</a><div class="help-popup">See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li></ul><h3 class="subhead">Curated</h3><ul class="a_poppers"><li><a target="_blank" href="https://www.nice.org.uk/guidance/ng151">NICE, 2021</a><div>UK NICE Guideline NG151, Colorectal cancer, 2021</div></li><li><a target="_blank" href="https://www.nice.org.uk/guidance/dg42">NICE, 2020</a><div>UK NICE Diagnostics Guidance DG42, Testing strategies for Lynch syndrome in people with endometrial cancer, 2020</div></li><li><a target="_blank" href="https://www.acmg.net/PDFLibrary/Lynch-Syndrome.pdf">ACMG ACT, 2019</a><div>American College of Medical Genetics and Genomics, Genomic Testing (Secondary Findings) ACT Sheet, MLH1, MSH2, MSH6, PMS2, EPCAM Pathogenic Variants, Lynch Syndrome (Hereditary Non-polyposis Colon Cancer [HNPCC]), 2019</div></li></ul></div>
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<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=600678" target="_blank">OMIM</a></li><li><a href="/clinvar/?term=2956[geneid]" target="_blank">View MSH6 variations in ClinVar</a></li><li><a href="/nuccore/160948586" target="_blank">RefSeqGene</a></li><li><a href="https://catalog.coriell.org/Search?q=614350" target="_blank">Coriell Institute for Medical Research</a></li></ul></div>
|
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<div class="portlet_content ln"><ul><li><a href="https://www.malacards.org/card/lynch_syndrome_5" target="_blank">MalaCards</a></li><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&query=Lynch%20syndrome%205" target="_blank">MedlinePlus</a></li><li><a href="https://medlineplus.gov/genetics/condition/lynch-syndrome" target="_blank">MedlinePlusGenetics (GHR)</a></li><li><a href="https://rarediseases.info.nih.gov/diseases/15792/disease" target="_blank">NCATS Office of Rare Diseases Research (GARD)</a></li></ul></div>
|
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|
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<li>
|
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<a href="/pubmed/clinical?term=Lynch%20syndrome%205" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=1&linkpostotal=2" target="_blank">PubMed Clinical Queries</a>
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|
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|
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<a href="/pubmed?term=Lynch%20syndrome%205%20AND%20humans[mesh]%20AND%20review[publication%20type]" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=2&linkpostotal=2" target="_blank">Reviews in PubMed</a>
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|
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<a class="brieflinkpopperctrl" href="/clinvar?LinkName=medgen_clinvar&from_uid=318886" ref="log$=recordlinks">ClinVar</a>
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<div class="brieflinkpop offscreen_noflow">Related medical variations</div>
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<a class="brieflinkpopperctrl" href="/gene?LinkName=medgen_gene_diseases&from_uid=318886" ref="log$=recordlinks">Gene</a>
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<div class="brieflinkpop offscreen_noflow">Related information in NCBI Gene</div>
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<a class="brieflinkpopperctrl" href="/gtr/tests?term=C1833477[DISCUI]" ref="log$=recordlinks">GTR</a>
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<div class="brieflinkpop offscreen_noflow">Clinical tests in GTR</div>
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|
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<div class="ralinkpop offscreen_noflow">Homo sapiens mutS homolog 6 (MSH6), RefSeqGene (LRG_219) on chromosome 2<div class="brieflinkpopdesc">gi|160948586|ref|NG_007111.1||gnl|L G_219</div></div>
|
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<a class="htb" ref="log$=activity&linkpos=4" href="/portal/utils/pageresolver.fcgi?recordid=67d68f3d2f30673f7b835353">2956[geneid] <span class="number">(9866)</span></a>
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