MSH6, mutS homolog 6, 2956

N. diseases: 296; N. variants: 642
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0265325
Disease: Turcot syndrome (disorder)
Turcot syndrome (disorder) 		0.800 GeneticVariation disease BEFREE Thirteen patients (15.7%) had tumor MMR deficiency due to a presumed germline mutation (9 MSH6, 3 MSH2, and 1 MLH1). 27327152 2016
CUI: C0265325
Disease: Turcot syndrome (disorder)
Turcot syndrome (disorder) 		0.800 GeneticVariation disease BEFREE Metachronous Wilms Tumor, Glioblastoma, and T-cell Leukemia in an Child With Constitutional Mismatch Repair Deficiency syndrome due to Novel Mutation in MSH6 (c.2590G>T). 31815888 2019
CUI: C0265325
Disease: Turcot syndrome (disorder)
Turcot syndrome (disorder) 		0.800 GeneticVariation disease BEFREE Whole-exome capture and massively parallel sequencing combined with homozygosity mapping identified a homozygous novel mutation in the MSH6 gene that leads to constitutional mismatch repair deficiency syndrome and increased cancer risk. 22493294 2012
CUI: C0265325
Disease: Turcot syndrome (disorder)
Turcot syndrome (disorder) 		0.800 GeneticVariation disease BEFREE We report on a case with constitutional mismatch repair deficiency caused by a novel MSH6 mutation leading to a T-cell lymphoma and colonic adenocarcinoma at six and 13 years of age, respectively. 20015892 2010
CUI: C0265325
Disease: Turcot syndrome (disorder)
Turcot syndrome (disorder) 		0.800 GeneticVariation disease BEFREE Tumor MMR-deficiency was observed for 22 cases [69 %; 95 % confidence interval (CI) 50-83 %], with the highest prevalence of MMR-deficiency in tumors from MSH2 mutation carriers (19/23, 83 %) compared with MLH1 and MSH6 carriers combined (3/9, 33 %; p = 0.01). 25117503 2014
CUI: C0265325
Disease: Turcot syndrome (disorder)
Turcot syndrome (disorder) 		0.800 GeneticVariation disease BEFREE MMR deficiency was most commonly due to alterations in MSH2 (53%) or MSH6 (23%). 27432916 2016
CUI: C0265325
Disease: Turcot syndrome (disorder)
Turcot syndrome (disorder) 		0.800 GeneticVariation disease BEFREE IHC analysis had a sensitivity of 100% in detecting MMR deficiency in carriers of a pathogenic MMR mutation, and can be used to predict which gene is expected to harbor the mutation for MLH1, MSH2 and MSH6. 15289847 2004
CUI: C0265325
Disease: Turcot syndrome (disorder)
Turcot syndrome (disorder) 		0.800 GeneticVariation disease CLINVAR
CUI: C0265325
Disease: Turcot syndrome (disorder)
Turcot syndrome (disorder) 		0.800 GeneticVariation disease BEFREE MSH6 was absent in one pediatric MSI-High tumor, consistent with an inherited mismatch repair deficiency associated with germline MSH6 mutation. 21637783 2011
CUI: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma 		0.800 GeneticVariation disease BEFREE Mutations in MSH6 were less prevalent, and MSH6 mutation carriers presented with colorectal and endometrial cancer at later ages than carriers of mutations in MSH2 or MLH1. 28772289 2017
CUI: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma 		0.800 GeneticVariation disease BEFREE Women with MSH6 mutations have a similar risk of endometrial cancer but a later age of diagnosis. 23765559 2013
CUI: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma 		0.800 GeneticVariation disease BEFREE Furthermore, the mean age at diagnosis of endometrial cancer in Japanese MSH6 mutation carriers (49.2 years) was earlier than previous reports from Western countries (56.5 years). 24100870 2013
CUI: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma 		0.800 GeneticVariation disease BEFREE Prophylactic hysterectomy in HNPCC should be restricted to women in whom abdominal surgery for other reasons is performed and to those with particularly increased risk such as MSH6 mutation carriers and/or women with multiple relatives with endometrial carcinoma. 19504173 2009
CUI: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma 		0.800 GeneticVariation disease BEFREE Among MMR genes, germline MSH6 mutations are often observed in HNPCC-like families with an increased frequency of endometrial cancer. 11153917 2000
CUI: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma 		0.800 GeneticVariation disease BEFREE Instability of only mononucleotide repeat markers was found in both endometrial carcinomas and hyperplasias from MSH6 mutation carriers. 11054716 2000
CUI: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma 		0.800 GeneticVariation disease BEFREE Women who were MSH6 mutation carriers had a 26-fold increased incidence of endometrial cancer (HR = 25.5, 95% CI = 16.8 to 38.7) and a sixfold increased incidence of other cancers associated with Lynch syndrome (HR = 6.0, 95% CI = 3.4 to 10.7). 20028993 2010
CUI: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma 		0.800 GeneticVariation disease BEFREE Recently, a link has been established between hMSH6 mutations and 'atypical' hereditary non-polyposis colon cancer (HNPCC) with an increased incidence of endometrial cancers. 10753784 2000
CUI: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma 		0.800 GeneticVariation disease BEFREE We report the first case of compound heterozygosity for two MSH6 mutations resulting in a nonconservative amino-acid change of a conserved residue and in a premature stop codon in a patient who developed rectal and endometrial cancer at ages 19 and 24 years, respectively, and presented few CALS in a single body segment. 16418736 2006
CUI: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma 		0.800 GeneticVariation disease BEFREE Endometrial cancer and/or atypical hyperplasia were diagnosed in 8 of 12 female carriers of MSH6 truncating mutations. 11709755 2002
CUI: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma 		0.800 GeneticVariation disease BEFREE Microsatellite instability positive ECs frequently are associated with frameshift mutations in coding mononucleotide tracts in IGFIIR, BAX, hMSH6, and hMSH3. 11753956 2001
CUI: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma 		0.800 GeneticVariation disease BEFREE We identified germline mutations in BRCA1 and in MSH6 in a patient with increased risk for HBOC diagnosed with endometrial cancer at the age of 46 years. 23164213 2012
CUI: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma 		0.800 GeneticVariation disease UNIPROT MSH6 mutation carriers have later age of onset of both colorectal cancer (62 vs. 51 years) and endometrial cancer (58 vs. 48 years) and a larger proportion of endometrial cancer than MLH1 or MSH2 mutation carriers. 14961575 2004
CUI: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma 		0.800 GeneticVariation disease CLINVAR
CUI: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma 		0.800 GeneticVariation disease BEFREE The aim of this study was to investigate the penetrance and expressivity of MSH6 mutations in kindreds ascertained through endometrial cancer probands unselected for family history. 15098177 2004
CUI: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma 		0.800 GeneticVariation disease BEFREE Israeli patients with early onset (age under 50 years) (n = 44) and familial nonsyndromic (n = 23) CRC, and women with familial clustering of EC or CRC (n = 12), and those diagnosed with EC at, or under, the age of 50 years (n = 5) were genotyped for germ-line mutations within the hMSH6 gene. 12537658 2002