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<meta name="keywords" content="C5399763, brain tumor-polyposis syndrome, brain tumor-polyposis syndrome 1, btp1 syndrome, btps1, childhood cancer syndrome, cmmr-d, cmmr-d syndrome, cns tumors with familial polyposis of the colon, cns tumours with familial polyposis of the colon, constitutional mis-match repair deficiency syndrome, constitutional mismatch repair deficiency syndrome, disease or syndrome, glioma-polyposis syndrome, malignant tumors of the central nervous system associated with familial polyposis of the colon, malignant tumours of the central nervous system associated with familial polyposis of the colon, mismatch repair cancer syndrome, mismatch repair cancer syndrome 1, mismatch repair deficiency, mlh1, mmr deficiency, mmrcs, mmrcs1, turcot syndrome, 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 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." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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UID=1748029
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ConceptID=C5399763
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Mismatch repair cancer syndrome 1<span class="h1sub">(MMRCS1)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1748029</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.">C5399763</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>BRAIN TUMOR-POLYPOSIS SYNDROME 1; BTP1 SYNDROME; CHILDHOOD CANCER SYNDROME; MISMATCH REPAIR DEFICIENCY; MMR DEFICIENCY; MMRCS1</td></tr>
|
||
<tr><td>Modes of inheritance:</td>
|
||
<td>
|
||
<div class="divPopper rprt" id="moi_141025"><div><strong>Autosomal recessive inheritance</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>141025</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0441748</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Intellectual Product</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Source: Orphanet</div>
|
||
<div class="spaceAbove">A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).</div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#moi_141025" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autosomal recessive inheritance</a><span> (Orphanet)</span></div></td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td><a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#target-gene-loc">Gene (location):<img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a><div class="display-none" id="target-gene-loc">
|
||
Gene(s) directly associated with<br />
|
||
this condition or phenotype.</div></td>
|
||
<td><a target="_blank" title="MLH1 - ID: 4292 - NCBI Gene" href="/gene/4292" class="medgenPMinfo">MLH1</a> (3p22.2)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0010159" target="_blank">MONDO:0010159</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/276300" target="_blank">276300</a></td></tr>
|
||
<tr><td>Orphanet:</td>
|
||
<td><a target="_blank" title="Orphanet: The portal for rare diseases and orphan drugs" href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=252202">ORPHA252202</a></td></tr></tbody></table></div><div class="rprt-body jig-ncbiinpagenav" data-jigconfig="smoothScroll: false, gotoTopLink: true, gotoTopLinkText: '', gotoTopLinkAttrs: {'title': 'Go to the top of the page'},allHeadingLevels: ['h1'], topOfPageTOC: true, tocId: 'my-toc'"><div id="rprt-tabs-1" class="rprt-tab"><div id="tb-termsProp-1"><div class="leftCol mgCol"><div>
|
||
<div class="portlet mgSection" id="ID_101">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Disease_characteristics">Disease characteristics</h1><a sid="101" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><div class="excerpt">Excerpted from the <i>GeneReview: </i><a href="/books/NBK1211" target="_blank">Lynch Syndrome</a></div><div>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. [from <a title="GeneReviews" href="https://www.ncbi.nlm.nih.gov/books/NBK1116" class="defSource" target="_blank">GeneReviews</a>]</div><div class="spaceAbove"><strong>Full text of <i>GeneReview</i> (by section):</strong><br /><a class="medgenPMinfo" href="/books/NBK1211#hnpcc.Summary" target="NBK1211">Summary</a> | <a class="medgenPMinfo" href="/books/NBK1211#hnpcc.Diagnosis" target="NBK1211">Diagnosis</a> | <a class="medgenPMinfo" href="/books/NBK1211#hnpcc.Clinical_Characteristics" target="NBK1211">Clinical Characteristics</a> | <a class="medgenPMinfo" href="/books/NBK1211#hnpcc.Genetically_Related_Allelic_Disord" target="NBK1211">Genetically Related (Allelic) Disorders</a> | <a class="medgenPMinfo" href="/books/NBK1211#hnpcc.Differential_Diagnosis" target="NBK1211">Differential Diagnosis</a> | <a class="medgenPMinfo" href="/books/NBK1211#hnpcc.Management" target="NBK1211">Management</a> | <a class="medgenPMinfo" href="/books/NBK1211#hnpcc.Genetic_Counseling" target="NBK1211">Genetic Counseling</a> | <a class="medgenPMinfo" href="/books/NBK1211#hnpcc.Resources" target="NBK1211">Resources</a> | <a class="medgenPMinfo" href="/books/NBK1211#hnpcc.Molecular_Genetics" target="NBK1211">Molecular Genetics</a> | <a class="medgenPMinfo" href="/books/NBK1211#hnpcc.Chapter_Notes" target="NBK1211">Chapter Notes</a> | <a class="medgenPMinfo" href="/books/NBK1211#hnpcc.References" target="NBK1211">References</a></div><div class="spaceAbove"><strong>Authors:</strong><br />
|
||
Gregory Idos | Laura Valle <a href="/books/NBK1211" target="NBK1211" title="NCBI Bookshelf: Lynch Syndrome">view full author information</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_117">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Additional_descriptions">Additional descriptions</h1><a sid="117" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><div class="mgSection"><strong>From OMIM</strong><br />Mismatch repair cancer syndrome (MMRCS) is a rare autosomal recessive childhood cancer predisposition syndrome with 4 main tumor types: hematologic malignancies, brain/central nervous system tumors, colorectal tumors and multiple intestinal polyps, and other malignancies including embryonic tumors and rhabdomyosarcoma. Many patients show signs reminiscent of neurofibromatosis type I (NF1; 162200), particularly multiple cafe-au-lait macules (summary by Baas et al., 2013).
|
||
Wimmer and Etzler (2008) provided a review of the mismatch cancer repair syndrome and suggested that the prevalence may be underestimated.
|
||
Genetic Heterogeneity of Mismatch Repair Cancer Syndrome
|
||
MMRCS2 (619096) is caused by mutation in the MSH2 gene (609309) on chromosome 2p21-p16. MMRCS3 (619097) is caused by mutation in the MSH6 gene (600678) on chromosome 2p16. MMRCS4 (619101) is caused by mutation in the PMS2 gene (600259) on chromosome 7p22.
|
||
Patients with familial adenomatous polyposis (FAP; 175100), an autosomal dominant disorder that results from heterozygous mutations in the APC gene, may also develop brain tumors or extracolonic malignancies, resulting in a similar clinical phenotype.
|
||
Heterozygous mutations in the MMR genes result in hereditary nonpolyposis colorectal cancer (see, e.g., HNPCC1, 120435). <a target="_blank" href="http://www.omim.org/entry/276300">http://www.omim.org/entry/276300</a></div><div class="mgSection"><strong>From MedlinePlus Genetics</strong><br />Constitutional mismatch repair deficiency (CMMRD) syndrome is a rare disorder that greatly increases the risk of developing one or more types of cancer in children and young adults. The cancers that most commonly occur in CMMRD syndrome are cancers of the colon (large intestine) and rectum (collectively referred to as colorectal cancer), brain, and blood (leukemia or lymphoma).<br /><br />Almost all people with CMMRD syndrome develop cancer before age 18, generally in late childhood. The age of diagnosis varies depending on the cancer type; brain cancers, leukemia, and lymphomas tend to occur at younger ages than colorectal cancer in people with CMMRD syndrome. It is estimated that 20 to 40 percent of people with CMMRD syndrome who develop cancer will develop another cancer later in life.<br /><br />People with CMMRD syndrome may develop multiple noncancerous (benign) growths (adenomas) in the colon that are likely to become cancerous (malignant) over time. Brain cancers in CMMRD syndrome often involve certain cells called glial cells, causing gliomas or glioblastomas. The most common blood cancer in CMMRD syndrome is called non-Hodgkin lymphoma, which affects white blood cells. Other cancers that can occur in CMMRD syndrome include cancers of the small intestine, urinary tract, or uterine lining (endometrial cancer).<br /><br />Many people with CMMRD syndrome develop features similar to those that occur in a condition called neurofibromatosis type 1. These features include changes in skin coloring (pigmentation), which are characterized by one or more flat patches on the skin that are darker than the surrounding area (café-au-lait spots). Some affected individuals have freckling or patches of skin that are unusually light in color (hypopigmented). Rarely, people with CMMRD syndrome will develop a feature of neurofibromatosis type 1 called Lisch nodules, which are benign growths that often appear in the colored part of the eye (the iris). Lisch nodules do not interfere with vision. Some people with CMMRD syndrome are initially misdiagnosed with neurofibromatosis type 1. <a target="_blank" href="https://medlineplus.gov/genetics/condition/constitutional-mismatch-repair-deficiency-syndrome">https://medlineplus.gov/genetics/condition/constitutional-mismatch-repair-deficiency-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_438"><div><strong>Astrocytoma</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>438</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0004114</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Neoplastic Process</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Astrocytoma is a neoplasm of the central nervous system derived from astrocytes. Astrocytes are a type of glial cell, and thus astrocytoma is a subtype of glioma.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/438">Feature record</a> | <a href="/medgen?term=%22Astrocytoma%22%5BClinical%20Features%5D%20OR%20438%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_41825"><div><strong>Ependymoma</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>41825</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.">C0014474</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Neoplastic Process</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The presence of an ependymoma of the central nervous system.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/41825">Feature record</a> | <a href="/medgen?term=%22Ependymoma%22%5BClinical%20Features%5D%20OR%2041825%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_9725"><div><strong>Leukemia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>9725</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.">C0023418</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Neoplastic Process</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A cancer of the blood and bone marrow characterized by an abnormal proliferation of leukocytes.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/9725">Feature record</a> | <a href="/medgen?term=%22Leukemia%22%5BClinical%20Features%5D%20OR%209725%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_44223"><div><strong>Lymphoma</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>44223</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.">C0024299</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Neoplastic Process</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A cancer originating in lymphocytes and presenting as a solid tumor of lymhpoid cells.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/44223">Feature record</a> | <a href="/medgen?term=%22Lymphoma%22%5BClinical%20Features%5D%20OR%2044223%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_6160"><div><strong>Non-Hodgkin lymphoma</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>6160</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.">C0024305</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Neoplastic Process</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A type of lymphoma characterized microscopically by the absence of multinucleated Reed-Sternberg cells.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/6160">Feature record</a> | <a href="/medgen?term=%22Non-Hodgkin%20lymphoma%22%5BClinical%20Features%5D%20OR%206160%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_7517"><div><strong>Medulloblastoma</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>7517</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0025149</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Neoplastic Process</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Medulloblastoma is the most common brain tumor in children. It accounts for 16% of all pediatric brain tumors, and 40% of all cerebellar tumors in childhood are medulloblastoma. Medulloblastoma occurs bimodally, with peak incidences between 3 and 4 years and 8 and 9 years of age. Approximately 10 to 15% of medulloblastomas are diagnosed in infancy. Medulloblastoma accounts for less than 1% of central nervous system (CNS) tumors in adults, with highest incidence in adults 20 to 34 years of age. In 1 to 2% of patients, medulloblastoma is associated with Gorlin syndrome (109400), a nevoid basal carcinoma syndrome. Medulloblastoma also occurs in up to 40% of patients with Turcot syndrome (see 276300). Medulloblastoma is thought to arise from neural stem cell precursors in the granular cell layer of the cerebellum. Standard treatment includes surgery, chemotherapy, and, depending on the age of the patient, radiation therapy (Crawford et al., 2007). Millard and De Braganca (2016) reviewed the histopathologic variants and molecular subgroups of medulloblastoma. Pretreatment prognosis of medulloblastoma has been refined by histopathologic subclassification into the following variants: large-cell medulloblastoma, anaplastic medulloblastoma, desmoplastic/nodular medulloblastoma, and medulloblastoma with extensive nodularity (MBEN). The latter 2 groups have been shown to have a significantly superior prognosis as compared to the large cell and anaplastic groups in young children. At the molecular level, medulloblastomas have been categorized into the following subgroups: wingless (WNT), sonic hedgehog (SHH), group 3, and group 4. Each subgroup is characterized by a unique set of genetics and gene expression as well as demographic and clinical features.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/7517">Feature record</a> | <a href="/medgen?term=%22Medulloblastoma%22%5BClinical%20Features%5D%20OR%207517%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_18012"><div><strong>Neuroblastoma</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>18012</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.">C0027819</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Neoplastic Process</dd></dl></div></div></div>
|
||
<div class="spaceAbove">ALK-related neuroblastic tumor susceptibility is characterized by increased risk for neuroblastic tumors including neuroblastomas, ganglioneuroblastomas, and ganglioneuromas. Neuroblastomas are a more malignant tumor and ganglioneuromas a more benign tumor. Depending on the histologic findings, ganglioneuroblastomas can behave in a more aggressive fashion, like neuroblastomas, or in a benign fashion, like ganglioneuromas. The overall penetrance of a germline ALK pathogenic variant is approximately 50%, with the risk for neuroblastic tumor development highest in infancy and decreasing by late childhood.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/18012">Feature record</a> | <a href="/medgen?term=%22Neuroblastoma%22%5BClinical%20Features%5D%20OR%2018012%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_45190"><div><strong>Oligodendroglioma</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>45190</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.">C0028945</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Neoplastic Process</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Oligodendroglioma is a type of diffusely infiltrating glioma and constitutes approximately 5% of primary intracranial tumors. They often involve the cortical gray matter and are most commonly seen in the frontal lobes. OGs are generally low grade WHO grade II neoplasms that are slow-growing tumors and have a favorable treatment response when compared to other gliomas. Grade III anaplastic OG is a more malignant form of the tumor which portends a less favorable prognosis and may occur de novo or as degeneration from the lower grade OG.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/45190">Feature record</a> | <a href="/medgen?term=%22Oligodendroglioma%22%5BClinical%20Features%5D%20OR%2045190%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_20561"><div><strong>Rhabdomyosarcoma</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>20561</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.">C0035412</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Neoplastic Process</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A malignant soft tissue tumor which develops from cells of striated muscle. It is the most common form of tumor found in children and adolescents.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/20561">Feature record</a> | <a href="/medgen?term=%22Rhabdomyosarcoma%22%5BClinical%20Features%5D%20OR%2020561%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_86957"><div><strong>T-cell lymphoma</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>86957</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.">C0079772</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Neoplastic Process</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A type of lymphoma that originates in T-cells.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/86957">Feature record</a> | <a href="/medgen?term=%22T-cell%20lymphoma%22%5BClinical%20Features%5D%20OR%2086957%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_102477"><div><strong>Hypopigmentation of the skin</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>102477</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.">C0162835</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A reduction of skin color related to a decrease in melanin production and deposition.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/102477">Feature record</a> | <a href="/medgen?term=%22Hypopigmentation%20of%20the%20skin%22%5BClinical%20Features%5D%20OR%20102477%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_104498"><div><strong>Corpus callosum, agenesis of</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>104498</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.">C0175754</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The corpus callosum is the largest fiber tract in the central nervous system and the major interhemispheric fiber bundle in the brain. Formation of the corpus callosum begins as early as 6 weeks' gestation, with the first fibers crossing the midline at 11 to 12 weeks' gestation, and completion of the basic shape by age 18 to 20 weeks (Schell-Apacik et al., 2008). Agenesis of the corpus callosum (ACC) is one of the most frequent malformations in brain with a reported incidence ranging between 0.5 and 70 in 10,000 births. ACC is a clinically and genetically heterogeneous condition, which can be observed either as an isolated condition or as a manifestation in the context of a congenital syndrome (see MOLECULAR GENETICS and Dobyns, 1996). Also see mirror movements-1 and/or agenesis of the corpus callosum (MRMV1; 157600). Schell-Apacik et al. (2008) noted that there is confusion in the literature regarding radiologic terminology concerning partial absence of the corpus callosum, where various designations have been used, including hypogenesis, hypoplasia, partial agenesis, or dysgenesis.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/104498">Feature record</a> | <a href="/medgen?term=%22Corpus%20callosum%2C%20agenesis%20of%22%5BClinical%20Features%5D%20OR%20104498%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_64640"><div><strong>Plexiform neurofibroma</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>64640</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.">C0206728</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Neoplastic Process</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A neurofibroma in which Schwann cells proliferate inside the nerve sheath, producing an irregularly thickened, distorted, tortuous structure.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/64640">Feature record</a> | <a href="/medgen?term=%22Plexiform%20neurofibroma%22%5BClinical%20Features%5D%20OR%2064640%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_452349"><div><strong>Gray matter heterotopia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>452349</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.">C0266491</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Heterotopia or neuronal heterotopia are macroscopic clusters of misplaced neurons (gray matter), most often situated along the ventricular walls or within the subcortical white matter.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/452349">Feature record</a> | <a href="/medgen?term=%22Gray%20matter%20heterotopia%22%5BClinical%20Features%5D%20OR%20452349%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_82984"><div><strong>Small intestine adenocarcinoma</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>82984</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.">C0278803</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Neoplastic Process</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A malignant epithelial tumor with a glandular organization that originates in the small intestine.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/82984">Feature record</a> | <a href="/medgen?term=%22Small%20intestine%20adenocarcinoma%22%5BClinical%20Features%5D%20OR%2082984%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_137786"><div><strong>Pleomorphic xanthoastrocytoma</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>137786</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.">C0334586</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Neoplastic Process</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Pleomorphic xanthoastrocytomas (PXA) are rare low-grade astrocytomas (WHO Grade II) typically found in the temporal lobe and classically presenting with epilepsy. PXA is an astrocytic neoplasm that most often presents in children or young adults but can also occur in adults. The diagnosis of anaplastic PXA is made based upon tumor histopathologic characteristics and requires increased proliferative activity (mitotic index at least 5 mitoses/10 HPF), which is associated with worse overall survival. In general, anaplastic PXAs acquire features of a more aggressive astrocytic neoplasm that can include increased proliferation, necrosis, microvascular proliferation, loss of pericellular reticulin, and increased infiltrative growth.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/137786">Feature record</a> | <a href="/medgen?term=%22Pleomorphic%20xanthoastrocytoma%22%5BClinical%20Features%5D%20OR%20137786%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_137834"><div><strong>Colon adenocarcinoma</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>137834</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.">C0338106</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Neoplastic Process</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An adenocarcinoma arising from the colon. It is more frequently seen in populations with a Western type diet and in patients with a history of chronic inflammatory bowel disease. Signs and symptoms include intestinal bleeding, anemia, and change in bowel habits. According to the degree of cellular differentiation, colonic adenocarcinomas are divided into well, moderately, and poorly differentiated. Histologic variants include mucinous adenocarcinoma, signet ring cell carcinoma, medullary carcinoma, serrated adenocarcinoma, cribriform comedo-type adenocarcinoma, and micropapillary adenocarcinoma.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/137834">Feature record</a> | <a href="/medgen?term=%22Colon%20adenocarcinoma%22%5BClinical%20Features%5D%20OR%20137834%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_301585"><div><strong>Glioblastoma multiforme</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>301585</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.">C1621958</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Neoplastic Process</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A tumor arising from glia in the central nervous system with macroscopic regions of necrosis and hemorrhage. Microscopically, glioblastoma multiforme is characterized by regions of pseudopalisading necrosis, pleomorphic nuclei and cells, and microvascular proliferation.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/301585">Feature record</a> | <a href="/medgen?term=%22Glioblastoma%20multiforme%22%5BClinical%20Features%5D%20OR%20301585%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_348082"><div><strong>Axillary freckling</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>348082</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.">C1860335</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The presence in the axillary region (armpit) of an increased number of freckles, small circular spots on the skin that are darker than the surrounding skin because of deposits of melanin.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/348082">Feature record</a> | <a href="/medgen?term=%22Axillary%20freckling%22%5BClinical%20Features%5D%20OR%20348082%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_396266"><div><strong>Cafe au lait spots, multiple</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>396266</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.">C1861975</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The presence of six or more cafe-au-lait spots.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/396266">Feature record</a> | <a href="/medgen?term=%22Cafe%20au%20lait%20spots%2C%20multiple%22%5BClinical%20Features%5D%20OR%20396266%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_358118"><div><strong>Adenomatous colonic polyposis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>358118</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1868071</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Presence of multiple adenomatous polyps in the colon.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/358118">Feature record</a> | <a href="/medgen?term=%22Adenomatous%20colonic%20polyposis%22%5BClinical%20Features%5D%20OR%20358118%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1648304"><div><strong>Skin basal cell carcinoma</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1648304</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C4721806</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Neoplastic Process</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The presence of a basal cell carcinoma of the skin.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1648304">Feature record</a> | <a href="/medgen?term=%22Skin%20basal%20cell%20carcinoma%22%5BClinical%20Features%5D%20OR%201648304%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#clin_438" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Astrocytoma</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#clin_41825" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Ependymoma</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#clin_9725" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Leukemia</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#clin_44223" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Lymphoma</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#clin_6160" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Non-Hodgkin lymphoma</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="#clin_7517" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Medulloblastoma</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#clin_18012" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Neuroblastoma</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#clin_45190" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Oligodendroglioma</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#clin_20561" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Rhabdomyosarcoma</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#clin_86957" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">T-cell lymphoma</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#clin_102477" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypopigmentation of the skin</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#clin_104498" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Corpus callosum, agenesis of</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#clin_64640" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Plexiform neurofibroma</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#clin_452349" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Gray matter heterotopia</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#clin_82984" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Small intestine adenocarcinoma</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#clin_137786" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Pleomorphic xanthoastrocytoma</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#clin_137834" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Colon adenocarcinoma</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#clin_301585" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Glioblastoma multiforme</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#clin_348082" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Axillary freckling</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#clin_396266" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cafe au lait spots, multiple</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#clin_358118" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Adenomatous colonic polyposis</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#clin_1648304" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Skin basal cell carcinoma</a></div></span></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_118">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test, </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test, </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM, </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>, </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0265325[DISCUI]&test_type=Clinical" ref="ncbi_uid=78553">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=78553" target="_blank" href="/omim/276300">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=78553" ref="ncbi_uid=78553">V</a></span></span><span class="TLline"><a href="/medgen/78553" ref="tree=GTR&ncbi_uid=78553&link_uid=78553" title="View MedGen record for 'Turcot syndrome'">Turcot syndrome</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=C5399763[DISCUI]&test_type=Clinical" ref="ncbi_uid=1748029">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=1748029" target="_blank" href="/omim/120436">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1211/" ref="ncbi_uid=1748029">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=1748029" ref="ncbi_uid=1748029">V</a></span></span><span class="TLline">Mismatch repair cancer syndrome 1</span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C5436806[DISCUI]&test_type=Clinical" ref="ncbi_uid=1750327">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=1750327" target="_blank" href="/omim/609309">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=1750327" ref="ncbi_uid=1750327">V</a></span></span><span class="TLline"><a href="/medgen/1750327" ref="tree=GTR&ncbi_uid=1750327&link_uid=1750327" title="View MedGen record for 'Mismatch repair cancer syndrome 2'">Mismatch repair cancer syndrome 2</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=C5436807[DISCUI]&test_type=Clinical" ref="ncbi_uid=1733656">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=1733656" target="_blank" href="/omim/600678">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=1733656" ref="ncbi_uid=1733656">V</a></span></span><span class="TLline"><a href="/medgen/1733656" ref="tree=GTR&ncbi_uid=1733656&link_uid=1733656" title="View MedGen record for 'Mismatch repair cancer syndrome 3'">Mismatch repair cancer syndrome 3</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=C5436817[DISCUI]&test_type=Clinical" ref="ncbi_uid=1745382">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=1745382" target="_blank" href="/omim/600259">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=1745382" ref="ncbi_uid=1745382">V</a></span></span><span class="TLline"><a href="/medgen/1745382" ref="tree=GTR&ncbi_uid=1745382&link_uid=1745382" title="View MedGen record for 'Mismatch repair cancer syndrome 4'">Mismatch repair cancer syndrome 4</a></span></li></ul></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/21047" ref="tree=MeSH" title="MedGen record for Pathological Conditions, Signs and Symptoms">Pathological Conditions, Signs and Symptoms</a></span><ul><li><span class="TLline"><a href="/medgen/18325" ref="tree=MeSH" title="MedGen record for Pathological process">Pathological process</a></span><ul><li><span class="TLline"><a href="/medgen/4347" ref="tree=MeSH" title="MedGen record for Disease">Disease</a></span><ul><li><span class="TLline"><a href="/medgen/5527" ref="tree=MeSH" title="MedGen record for Hereditary disease">Hereditary disease</a></span><ul><li><span class="TLline"><a href="/medgen/14326" ref="tree=MeSH" title="MedGen record for Hereditary cancer-predisposing syndrome">Hereditary cancer-predisposing syndrome</a></span><ul><li><span class="matched_ds">Mismatch repair cancer syndrome 1</span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_105">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Professional_guidelines">Professional guidelines</h1><a sid="105" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">PubMed<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpPM"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/36943683">Treatment options for molecular subtypes of endometrial cancer in 2023.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Karpel HC,
|
||
Slomovitz B,
|
||
Coleman RL,
|
||
Pothuri B</span><br />
|
||
<span class="medgenPMjournal">Curr Opin Obstet Gynecol</span>
|
||
2023 Jun 1;35(3):270-278.
|
||
Epub 2023 Mar 20
|
||
doi: 10.1097/GCO.0000000000000855.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36943683" target="_blank">36943683</a></div>
|
||
|
||
<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/34936379">Adjuvant Therapy for Stage II Colon Cancer: ASCO Guideline Update.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Baxter NN,
|
||
Kennedy EB,
|
||
Bergsland E,
|
||
Berlin J,
|
||
George TJ,
|
||
Gill S,
|
||
Gold PJ,
|
||
Hantel A,
|
||
Jones L,
|
||
Lieu C,
|
||
Mahmoud N,
|
||
Morris AM,
|
||
Ruiz-Garcia E,
|
||
You YN,
|
||
Meyerhardt JA</span><br />
|
||
<span class="medgenPMjournal">J Clin Oncol</span>
|
||
2022 Mar 10;40(8):892-910.
|
||
Epub 2021 Dec 22
|
||
doi: 10.1200/JCO.21.02538.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34936379" target="_blank">34936379</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(mismatch%20repair%20cancer%20syndrome%201)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">See all (50)</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.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/38256131">Mismatch Repair Deficiency as a Predictive and Prognostic Biomarker in Endometrial Cancer: A Review on Immunohistochemistry Staining Patterns and Clinical Implications.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Addante F,
|
||
d'Amati A,
|
||
Santoro A,
|
||
Angelico G,
|
||
Inzani F,
|
||
Arciuolo D,
|
||
Travaglino A,
|
||
Raffone A,
|
||
D'Alessandris N,
|
||
Scaglione G,
|
||
Valente M,
|
||
Tinnirello G,
|
||
Sfregola S,
|
||
Padial Urtueta B,
|
||
Piermattei A,
|
||
Cianfrini F,
|
||
Mulè A,
|
||
Bragantini E,
|
||
Zannoni GF</span><br />
|
||
<span class="medgenPMjournal">Int J Mol Sci</span>
|
||
2024 Jan 15;25(2)
|
||
doi: 10.3390/ijms25021056.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38256131" target="_blank">38256131</a><a href="/pmc/articles/PMC10816607" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37751191">Characterization of mismatch-repair/microsatellite instability-discordant endometrial cancers.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Riedinger CJ,
|
||
Esnakula A,
|
||
Haight PJ,
|
||
Suarez AA,
|
||
Chen W,
|
||
Gillespie J,
|
||
Villacres A,
|
||
Chassen A,
|
||
Cohn DE,
|
||
Goodfellow PJ,
|
||
Cosgrove CM</span><br />
|
||
<span class="medgenPMjournal">Cancer</span>
|
||
2024 Feb 1;130(3):385-399.
|
||
Epub 2023 Sep 26
|
||
doi: 10.1002/cncr.35030.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37751191" target="_blank">37751191</a><a href="/pmc/articles/PMC10843110" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36943683">Treatment options for molecular subtypes of endometrial cancer in 2023.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Karpel HC,
|
||
Slomovitz B,
|
||
Coleman RL,
|
||
Pothuri B</span><br />
|
||
<span class="medgenPMjournal">Curr Opin Obstet Gynecol</span>
|
||
2023 Jun 1;35(3):270-278.
|
||
Epub 2023 Mar 20
|
||
doi: 10.1097/GCO.0000000000000855.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36943683" target="_blank">36943683</a></div>
|
||
|
||
<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/33264544">Pembrolizumab in Microsatellite-Instability-High Advanced Colorectal Cancer.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">André T,
|
||
Shiu KK,
|
||
Kim TW,
|
||
Jensen BV,
|
||
Jensen LH,
|
||
Punt C,
|
||
Smith D,
|
||
Garcia-Carbonero R,
|
||
Benavides M,
|
||
Gibbs P,
|
||
de la Fouchardiere C,
|
||
Rivera F,
|
||
Elez E,
|
||
Bendell J,
|
||
Le DT,
|
||
Yoshino T,
|
||
Van Cutsem E,
|
||
Yang P,
|
||
Farooqui MZH,
|
||
Marinello P,
|
||
Diaz LA Jr;
|
||
KEYNOTE-177 Investigators</span><br />
|
||
<span class="medgenPMjournal">N Engl J Med</span>
|
||
2020 Dec 3;383(23):2207-2218.
|
||
doi: 10.1056/NEJMoa2017699.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33264544" target="_blank">33264544</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Mismatch%20repair%20cancer%20syndrome%201%22%20AND%20Etiology%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (277)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38256131">Mismatch Repair Deficiency as a Predictive and Prognostic Biomarker in Endometrial Cancer: A Review on Immunohistochemistry Staining Patterns and Clinical Implications.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Addante F,
|
||
d'Amati A,
|
||
Santoro A,
|
||
Angelico G,
|
||
Inzani F,
|
||
Arciuolo D,
|
||
Travaglino A,
|
||
Raffone A,
|
||
D'Alessandris N,
|
||
Scaglione G,
|
||
Valente M,
|
||
Tinnirello G,
|
||
Sfregola S,
|
||
Padial Urtueta B,
|
||
Piermattei A,
|
||
Cianfrini F,
|
||
Mulè A,
|
||
Bragantini E,
|
||
Zannoni GF</span><br />
|
||
<span class="medgenPMjournal">Int J Mol Sci</span>
|
||
2024 Jan 15;25(2)
|
||
doi: 10.3390/ijms25021056.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38256131" target="_blank">38256131</a><a href="/pmc/articles/PMC10816607" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37751191">Characterization of mismatch-repair/microsatellite instability-discordant endometrial cancers.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Riedinger CJ,
|
||
Esnakula A,
|
||
Haight PJ,
|
||
Suarez AA,
|
||
Chen W,
|
||
Gillespie J,
|
||
Villacres A,
|
||
Chassen A,
|
||
Cohn DE,
|
||
Goodfellow PJ,
|
||
Cosgrove CM</span><br />
|
||
<span class="medgenPMjournal">Cancer</span>
|
||
2024 Feb 1;130(3):385-399.
|
||
Epub 2023 Sep 26
|
||
doi: 10.1002/cncr.35030.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37751191" target="_blank">37751191</a><a href="/pmc/articles/PMC10843110" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<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/34837268">Mismatch repair deficiency: The what, how and why it is important.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Olave MC,
|
||
Graham RP</span><br />
|
||
<span class="medgenPMjournal">Genes Chromosomes Cancer</span>
|
||
2022 Jun;61(6):314-321.
|
||
Epub 2021 Dec 9
|
||
doi: 10.1002/gcc.23015.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34837268" target="_blank">34837268</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28596308">Mismatch repair deficiency predicts response of solid tumors to PD-1 blockade.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Le DT,
|
||
Durham JN,
|
||
Smith KN,
|
||
Wang H,
|
||
Bartlett BR,
|
||
Aulakh LK,
|
||
Lu S,
|
||
Kemberling H,
|
||
Wilt C,
|
||
Luber BS,
|
||
Wong F,
|
||
Azad NS,
|
||
Rucki AA,
|
||
Laheru D,
|
||
Donehower R,
|
||
Zaheer A,
|
||
Fisher GA,
|
||
Crocenzi TS,
|
||
Lee JJ,
|
||
Greten TF,
|
||
Duffy AG,
|
||
Ciombor KK,
|
||
Eyring AD,
|
||
Lam BH,
|
||
Joe A,
|
||
Kang SP,
|
||
Holdhoff M,
|
||
Danilova L,
|
||
Cope L,
|
||
Meyer C,
|
||
Zhou S,
|
||
Goldberg RM,
|
||
Armstrong DK,
|
||
Bever KM,
|
||
Fader AN,
|
||
Taube J,
|
||
Housseau F,
|
||
Spetzler D,
|
||
Xiao N,
|
||
Pardoll DM,
|
||
Papadopoulos N,
|
||
Kinzler KW,
|
||
Eshleman JR,
|
||
Vogelstein B,
|
||
Anders RA,
|
||
Diaz LA Jr</span><br />
|
||
<span class="medgenPMjournal">Science</span>
|
||
2017 Jul 28;357(6349):409-413.
|
||
Epub 2017 Jun 8
|
||
doi: 10.1126/science.aan6733.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28596308" target="_blank">28596308</a><a href="/pmc/articles/PMC5576142" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Mismatch%20repair%20cancer%20syndrome%201%22%20AND%20Diagnosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (307)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/36943683">Treatment options for molecular subtypes of endometrial cancer in 2023.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Karpel HC,
|
||
Slomovitz B,
|
||
Coleman RL,
|
||
Pothuri B</span><br />
|
||
<span class="medgenPMjournal">Curr Opin Obstet Gynecol</span>
|
||
2023 Jun 1;35(3):270-278.
|
||
Epub 2023 Mar 20
|
||
doi: 10.1097/GCO.0000000000000855.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36943683" target="_blank">36943683</a></div>
|
||
|
||
<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/33264544">Pembrolizumab in Microsatellite-Instability-High Advanced Colorectal Cancer.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">André T,
|
||
Shiu KK,
|
||
Kim TW,
|
||
Jensen BV,
|
||
Jensen LH,
|
||
Punt C,
|
||
Smith D,
|
||
Garcia-Carbonero R,
|
||
Benavides M,
|
||
Gibbs P,
|
||
de la Fouchardiere C,
|
||
Rivera F,
|
||
Elez E,
|
||
Bendell J,
|
||
Le DT,
|
||
Yoshino T,
|
||
Van Cutsem E,
|
||
Yang P,
|
||
Farooqui MZH,
|
||
Marinello P,
|
||
Diaz LA Jr;
|
||
KEYNOTE-177 Investigators</span><br />
|
||
<span class="medgenPMjournal">N Engl J Med</span>
|
||
2020 Dec 3;383(23):2207-2218.
|
||
doi: 10.1056/NEJMoa2017699.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33264544" target="_blank">33264544</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32143413">Immunotherapy, Inflammation and Colorectal Cancer.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lichtenstern CR,
|
||
Ngu RK,
|
||
Shalapour S,
|
||
Karin M</span><br />
|
||
<span class="medgenPMjournal">Cells</span>
|
||
2020 Mar 4;9(3)
|
||
doi: 10.3390/cells9030618.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32143413" target="_blank">32143413</a><a href="/pmc/articles/PMC7140520" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28596308">Mismatch repair deficiency predicts response of solid tumors to PD-1 blockade.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Le DT,
|
||
Durham JN,
|
||
Smith KN,
|
||
Wang H,
|
||
Bartlett BR,
|
||
Aulakh LK,
|
||
Lu S,
|
||
Kemberling H,
|
||
Wilt C,
|
||
Luber BS,
|
||
Wong F,
|
||
Azad NS,
|
||
Rucki AA,
|
||
Laheru D,
|
||
Donehower R,
|
||
Zaheer A,
|
||
Fisher GA,
|
||
Crocenzi TS,
|
||
Lee JJ,
|
||
Greten TF,
|
||
Duffy AG,
|
||
Ciombor KK,
|
||
Eyring AD,
|
||
Lam BH,
|
||
Joe A,
|
||
Kang SP,
|
||
Holdhoff M,
|
||
Danilova L,
|
||
Cope L,
|
||
Meyer C,
|
||
Zhou S,
|
||
Goldberg RM,
|
||
Armstrong DK,
|
||
Bever KM,
|
||
Fader AN,
|
||
Taube J,
|
||
Housseau F,
|
||
Spetzler D,
|
||
Xiao N,
|
||
Pardoll DM,
|
||
Papadopoulos N,
|
||
Kinzler KW,
|
||
Eshleman JR,
|
||
Vogelstein B,
|
||
Anders RA,
|
||
Diaz LA Jr</span><br />
|
||
<span class="medgenPMjournal">Science</span>
|
||
2017 Jul 28;357(6349):409-413.
|
||
Epub 2017 Jun 8
|
||
doi: 10.1126/science.aan6733.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28596308" target="_blank">28596308</a><a href="/pmc/articles/PMC5576142" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Mismatch%20repair%20cancer%20syndrome%201%22%20AND%20Therapy%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (130)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38256131">Mismatch Repair Deficiency as a Predictive and Prognostic Biomarker in Endometrial Cancer: A Review on Immunohistochemistry Staining Patterns and Clinical Implications.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Addante F,
|
||
d'Amati A,
|
||
Santoro A,
|
||
Angelico G,
|
||
Inzani F,
|
||
Arciuolo D,
|
||
Travaglino A,
|
||
Raffone A,
|
||
D'Alessandris N,
|
||
Scaglione G,
|
||
Valente M,
|
||
Tinnirello G,
|
||
Sfregola S,
|
||
Padial Urtueta B,
|
||
Piermattei A,
|
||
Cianfrini F,
|
||
Mulè A,
|
||
Bragantini E,
|
||
Zannoni GF</span><br />
|
||
<span class="medgenPMjournal">Int J Mol Sci</span>
|
||
2024 Jan 15;25(2)
|
||
doi: 10.3390/ijms25021056.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38256131" target="_blank">38256131</a><a href="/pmc/articles/PMC10816607" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36943683">Treatment options for molecular subtypes of endometrial cancer in 2023.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Karpel HC,
|
||
Slomovitz B,
|
||
Coleman RL,
|
||
Pothuri B</span><br />
|
||
<span class="medgenPMjournal">Curr Opin Obstet Gynecol</span>
|
||
2023 Jun 1;35(3):270-278.
|
||
Epub 2023 Mar 20
|
||
doi: 10.1097/GCO.0000000000000855.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36943683" target="_blank">36943683</a></div>
|
||
|
||
<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/34837268">Mismatch repair deficiency: The what, how and why it is important.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Olave MC,
|
||
Graham RP</span><br />
|
||
<span class="medgenPMjournal">Genes Chromosomes Cancer</span>
|
||
2022 Jun;61(6):314-321.
|
||
Epub 2021 Dec 9
|
||
doi: 10.1002/gcc.23015.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34837268" target="_blank">34837268</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28596308">Mismatch repair deficiency predicts response of solid tumors to PD-1 blockade.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Le DT,
|
||
Durham JN,
|
||
Smith KN,
|
||
Wang H,
|
||
Bartlett BR,
|
||
Aulakh LK,
|
||
Lu S,
|
||
Kemberling H,
|
||
Wilt C,
|
||
Luber BS,
|
||
Wong F,
|
||
Azad NS,
|
||
Rucki AA,
|
||
Laheru D,
|
||
Donehower R,
|
||
Zaheer A,
|
||
Fisher GA,
|
||
Crocenzi TS,
|
||
Lee JJ,
|
||
Greten TF,
|
||
Duffy AG,
|
||
Ciombor KK,
|
||
Eyring AD,
|
||
Lam BH,
|
||
Joe A,
|
||
Kang SP,
|
||
Holdhoff M,
|
||
Danilova L,
|
||
Cope L,
|
||
Meyer C,
|
||
Zhou S,
|
||
Goldberg RM,
|
||
Armstrong DK,
|
||
Bever KM,
|
||
Fader AN,
|
||
Taube J,
|
||
Housseau F,
|
||
Spetzler D,
|
||
Xiao N,
|
||
Pardoll DM,
|
||
Papadopoulos N,
|
||
Kinzler KW,
|
||
Eshleman JR,
|
||
Vogelstein B,
|
||
Anders RA,
|
||
Diaz LA Jr</span><br />
|
||
<span class="medgenPMjournal">Science</span>
|
||
2017 Jul 28;357(6349):409-413.
|
||
Epub 2017 Jun 8
|
||
doi: 10.1126/science.aan6733.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28596308" target="_blank">28596308</a><a href="/pmc/articles/PMC5576142" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Mismatch%20repair%20cancer%20syndrome%201%22%20AND%20Prognosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (243)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38256131">Mismatch Repair Deficiency as a Predictive and Prognostic Biomarker in Endometrial Cancer: A Review on Immunohistochemistry Staining Patterns and Clinical Implications.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Addante F,
|
||
d'Amati A,
|
||
Santoro A,
|
||
Angelico G,
|
||
Inzani F,
|
||
Arciuolo D,
|
||
Travaglino A,
|
||
Raffone A,
|
||
D'Alessandris N,
|
||
Scaglione G,
|
||
Valente M,
|
||
Tinnirello G,
|
||
Sfregola S,
|
||
Padial Urtueta B,
|
||
Piermattei A,
|
||
Cianfrini F,
|
||
Mulè A,
|
||
Bragantini E,
|
||
Zannoni GF</span><br />
|
||
<span class="medgenPMjournal">Int J Mol Sci</span>
|
||
2024 Jan 15;25(2)
|
||
doi: 10.3390/ijms25021056.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38256131" target="_blank">38256131</a><a href="/pmc/articles/PMC10816607" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<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/34837268">Mismatch repair deficiency: The what, how and why it is important.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Olave MC,
|
||
Graham RP</span><br />
|
||
<span class="medgenPMjournal">Genes Chromosomes Cancer</span>
|
||
2022 Jun;61(6):314-321.
|
||
Epub 2021 Dec 9
|
||
doi: 10.1002/gcc.23015.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34837268" target="_blank">34837268</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33264544">Pembrolizumab in Microsatellite-Instability-High Advanced Colorectal Cancer.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">André T,
|
||
Shiu KK,
|
||
Kim TW,
|
||
Jensen BV,
|
||
Jensen LH,
|
||
Punt C,
|
||
Smith D,
|
||
Garcia-Carbonero R,
|
||
Benavides M,
|
||
Gibbs P,
|
||
de la Fouchardiere C,
|
||
Rivera F,
|
||
Elez E,
|
||
Bendell J,
|
||
Le DT,
|
||
Yoshino T,
|
||
Van Cutsem E,
|
||
Yang P,
|
||
Farooqui MZH,
|
||
Marinello P,
|
||
Diaz LA Jr;
|
||
KEYNOTE-177 Investigators</span><br />
|
||
<span class="medgenPMjournal">N Engl J Med</span>
|
||
2020 Dec 3;383(23):2207-2218.
|
||
doi: 10.1056/NEJMoa2017699.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33264544" target="_blank">33264544</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28596308">Mismatch repair deficiency predicts response of solid tumors to PD-1 blockade.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Le DT,
|
||
Durham JN,
|
||
Smith KN,
|
||
Wang H,
|
||
Bartlett BR,
|
||
Aulakh LK,
|
||
Lu S,
|
||
Kemberling H,
|
||
Wilt C,
|
||
Luber BS,
|
||
Wong F,
|
||
Azad NS,
|
||
Rucki AA,
|
||
Laheru D,
|
||
Donehower R,
|
||
Zaheer A,
|
||
Fisher GA,
|
||
Crocenzi TS,
|
||
Lee JJ,
|
||
Greten TF,
|
||
Duffy AG,
|
||
Ciombor KK,
|
||
Eyring AD,
|
||
Lam BH,
|
||
Joe A,
|
||
Kang SP,
|
||
Holdhoff M,
|
||
Danilova L,
|
||
Cope L,
|
||
Meyer C,
|
||
Zhou S,
|
||
Goldberg RM,
|
||
Armstrong DK,
|
||
Bever KM,
|
||
Fader AN,
|
||
Taube J,
|
||
Housseau F,
|
||
Spetzler D,
|
||
Xiao N,
|
||
Pardoll DM,
|
||
Papadopoulos N,
|
||
Kinzler KW,
|
||
Eshleman JR,
|
||
Vogelstein B,
|
||
Anders RA,
|
||
Diaz LA Jr</span><br />
|
||
<span class="medgenPMjournal">Science</span>
|
||
2017 Jul 28;357(6349):409-413.
|
||
Epub 2017 Jun 8
|
||
doi: 10.1126/science.aan6733.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28596308" target="_blank">28596308</a><a href="/pmc/articles/PMC5576142" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Mismatch%20repair%20cancer%20syndrome%201%22%20AND%20Clinical%20prediction%20guides%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (258)</a></div></div>
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||
</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/36682091">Mismatch-repair deficiency, microsatellite instability, and lynch syndrome in ovarian cancer: A systematic review and meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mitric C,
|
||
Salman L,
|
||
Abrahamyan L,
|
||
Kim SR,
|
||
Pechlivanoglou P,
|
||
Chan KKW,
|
||
Gien LT,
|
||
Ferguson SE</span><br />
|
||
<span class="medgenPMjournal">Gynecol Oncol</span>
|
||
2023 Mar;170:133-142.
|
||
Epub 2023 Jan 20
|
||
doi: 10.1016/j.ygyno.2022.12.008.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36682091" target="_blank">36682091</a></div>
|
||
|
||
<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/35792468">The prevalence of mismatch repair deficiency in ovarian cancer: A systematic review and meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Atwal A,
|
||
Snowsill T,
|
||
Dandy MC,
|
||
Krum T,
|
||
Newton C,
|
||
Evans DG,
|
||
Crosbie EJ,
|
||
Ryan NAJ</span><br />
|
||
<span class="medgenPMjournal">Int J Cancer</span>
|
||
2022 Nov 1;151(9):1626-1639.
|
||
Epub 2022 Jul 6
|
||
doi: 10.1002/ijc.34165.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35792468" target="_blank">35792468</a><a href="/pmc/articles/PMC9539584" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34936379">Adjuvant Therapy for Stage II Colon Cancer: ASCO Guideline Update.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Baxter NN,
|
||
Kennedy EB,
|
||
Bergsland E,
|
||
Berlin J,
|
||
George TJ,
|
||
Gill S,
|
||
Gold PJ,
|
||
Hantel A,
|
||
Jones L,
|
||
Lieu C,
|
||
Mahmoud N,
|
||
Morris AM,
|
||
Ruiz-Garcia E,
|
||
You YN,
|
||
Meyerhardt JA</span><br />
|
||
<span class="medgenPMjournal">J Clin Oncol</span>
|
||
2022 Mar 10;40(8):892-910.
|
||
Epub 2021 Dec 22
|
||
doi: 10.1200/JCO.21.02538.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34936379" target="_blank">34936379</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34796431">Adjuvant Chemotherapy for Gastric Cancer Patients with Mismatch Repair Deficiency or Microsatellite Instability: Systematic Review and Meta-Analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Nie RC,
|
||
Chen GM,
|
||
Yuan SQ,
|
||
Kim JW,
|
||
Zhou J,
|
||
Nie M,
|
||
Feng CY,
|
||
Chen YB,
|
||
Chen S,
|
||
Zhou ZW,
|
||
Wang Y,
|
||
Li YF</span><br />
|
||
<span class="medgenPMjournal">Ann Surg Oncol</span>
|
||
2022 Apr;29(4):2324-2331.
|
||
Epub 2021 Nov 18
|
||
doi: 10.1245/s10434-021-11050-6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34796431" target="_blank">34796431</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Mismatch%20repair%20cancer%20syndrome%201%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 (12)</a></div></div>
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|
||
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|
||
|
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<div class="supplemental col three_col last">
|
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<h2 class="offscreen_noflow">Supplemental Content</h2>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Table_of_contents">Table of contents</h1><a sid="113" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Genetic_Testing_Registry">Genetic Testing Registry</h1><a sid="106" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C5399763%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (95)</a></li>
|
||
<li><a href="/gtr/tests?term=C5399763%5bDISCUI%5d&filter=method%3A2%5F15" target="_blank">Methylation analysis (1)</a></li>
|
||
<li><a href="/gtr/tests?term=C5399763%5bDISCUI%5d&filter=method%3A2%5F12" target="_blank">Microsatellite instability testing (MSI) (4)</a></li>
|
||
<li><a href="/gtr/tests?term=C5399763%5bDISCUI%5d&filter=method%3A2%5F18" target="_blank">Mutation scanning of select exons (6)</a></li>
|
||
<li><a href="/gtr/tests?term=C5399763%5bDISCUI%5d&filter=method%3A2%5F17" target="_blank">Mutation scanning of the entire coding region (5)</a></li>
|
||
<li><a href="/gtr/tests?term=C5399763%5bDISCUI%5d&filter=method%3A2%5F30" target="_blank">RNA analysis (1)</a></li>
|
||
<li><a href="/gtr/tests?term=C5399763%5bDISCUI%5d&filter=method%3A2%5F9" target="_blank">Sequence analysis of select exons (7)</a></li>
|
||
<li><a href="/gtr/tests?term=C5399763%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (108)</a></li>
|
||
<li><a href="/gtr/tests?term=C5399763%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (16)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C5399763%5bDISCUI%5d" target="_blank">See all (134)</a></total></li>
|
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</ul></div>
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</div>
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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=276300" target="_blank">OMIM</a></li><li><a href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=252202" target="_blank">Orphanet</a></li><li><a href="https://clinicaltrials.gov/search?cond=Mismatch%20repair%20cancer%20syndrome%201" target="_blank">ClinicalTrials.gov</a></li></ul></div>
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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=(mismatch%20repair%20cancer%20syndrome%201)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">PubMed</a><div class="help-popup">See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li><li><a target="_blank" href="/books/?term=((%22clinical%20guidelines%22%5BResource%20Type%5D)%20OR%20%22practice%20guideline%22%5BPublication%20Type%5D)%20AND%20(%22Mismatch%20repair%20cancer%20syndrome%201%22)">Bookshelf</a><div class="help-popup">See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li></ul><h3 class="subhead">Curated</h3><ul class="a_poppers"><li><a target="_blank" href="https://www.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 mgSection" id="ID_115">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Molecular_resources">Molecular resources</h1><a sid="115" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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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=120436" target="_blank">OMIM</a></li><li><a href="/clinvar/?term=4292[geneid]" target="_blank">View MLH1 variations in ClinVar</a></li><li><a href="/nuccore/160948584" target="_blank">RefSeqGene</a></li><li><a href="https://catalog.coriell.org/Search?q=276300" target="_blank">Coriell Institute for Medical Research</a></li></ul></div>
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</div>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Consumer_resources">Consumer resources</h1><a sid="116" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul><li><a href="https://www.malacards.org/card/mismatch_repair_cancer_syndrome_1" target="_blank">MalaCards</a></li><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&query=Mismatch%20repair%20cancer%20syndrome%201" target="_blank">MedlinePlus</a></li><li><a href="https://medlineplus.gov/genetics/condition/constitutional-mismatch-repair-deficiency-syndrome" target="_blank">MedlinePlusGenetics (GHR)</a></li><li><a href="https://rarediseases.info.nih.gov/diseases/420/disease" target="_blank">NCATS Office of Rare Diseases Research (GARD)</a></li></ul></div>
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||
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||
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<h3>Reviews</h3>
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<a href="/pubmed/20301390" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=1&linkpostotal=3" target="_blank"><span class="gene_reviews">GeneReviews</span></a>
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