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 Biomarker disease BEFREE Mutations in MSH6 have also been found but these do not always cause a clear cancer predisposition phenotype and MSH6-defective tumors often do not show the standard characteristics of MMR deficiency, such as microsatellite instability. 24040339 2013
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 AlteredExpression disease BEFREE Loss of MSH6 expression is the predominant cause of MMR deficiency in early-onset CRC. 20924129 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 Biomarker disease BEFREE Our findings support a role for MSH6 in Turcot syndrome and are consistent with an autosomal recessive mode of inheritance. 16000562 2005
CUI: C0265325
Disease: Turcot syndrome (disorder)
Turcot syndrome (disorder) 		0.800 Biomarker disease BEFREE Cumulative colorectal cancer incidence was estimated in a cohort of PMS2- and MSH6-associated families, ascertained by the CMMRD phenotype of the index, by using mutation probabilities based on kinship coefficients as analytical weights in a proportional hazard regression on the cause-specific hazards. 31204389 2019
CUI: C0265325
Disease: Turcot syndrome (disorder)
Turcot syndrome (disorder) 		0.800 Biomarker disease BEFREE DNA was extracted from paraffin embedded tissue by microdissection and analysed for the presence of microsatellite instability (MSI) and mutations in five genes known to be targets in mismatch repair deficiency (TGFbetaRII, IGF2R, BAX, hMSH3, and hMSH6). 10861262 2000
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 Biomarker disease BEFREE We propose that staining for PMS2 and MSH6 alone will be sufficient to detect all cases of mismatch repair deficiency and should replace routine screening with all four antibodies. 20632815 2010
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 Biomarker disease BEFREE Six (7%) tumors were p53 abnormal, 82 (91%) were p53 normal, and 2 (2%) tumors had MMR deficiency (1 MSH6 loss and 1 MSH2/6 loss; both were p53 normal). 31335355 2019
CUI: C0265325
Disease: Turcot syndrome (disorder)
Turcot syndrome (disorder) 		0.800 AlteredExpression disease BEFREE We present a deficient MMR system, in a PJS patient, which demonstrated low mRNA levels of hMSH6 and hPMS2 and an increasing MMR deficiency from the non-dysplastic lesion to hamartomatous polyp of PJS with a high risk of cancer. 23677888 2013
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 Biomarker disease BEFREE Moreover, the mean age of onset of both colorectal cancer (MSH6 v MSH2/MLH1 = 55 years v 44/41 years) and endometrial carcinomas (MSH6 v MSH2/MLH1 = 55 years v 49/48 years) is delayed. 11333868 2001
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 Biomarker disease BEFREE Lynch syndrome is caused by germline mutations in MSH2, MLH1, MSH6, and PMS2 mismatch-repair genes and leads to a high risk of colorectal and endometrial cancer. 21145788 2011
CUI: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma 		0.800 Biomarker disease BEFREE Unusual staining patterns such as heterogeneous MSH6 staining have been reported in colorectal and endometrial cancers. 31783044 2020
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 Biomarker disease BEFREE A mutational analysis of three DNA mismatch repair (MMR) genes (hMLH1, hMSH2 and hMSH6) in patients with endometrial cancer who meet our criteria for familial predisposition to HNPCC-associated endometrial cancers was performed. 18624996 2008
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