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: C0007103
Disease: Malignant neoplasm of endometrium
Malignant neoplasm of endometrium
0.400 GeneticVariation disease BEFREE Pathogenic MSH6 variants caused a sex-limited trait with high endometrial cancer risk but only modestly increased colorectal cancer risk in both genders. 31337882 2020
CUI: C0007103
Disease: Malignant neoplasm of endometrium
Malignant neoplasm of endometrium
0.400 GeneticVariation disease BEFREE The three pathogenic variants included two colorectal cancers with MLH1 loss and high MSI and one endometrial cancer with MSH6 loss and microsatellite stability. 31386297 2019
CUI: C0007103
Disease: Malignant neoplasm of endometrium
Malignant neoplasm of endometrium
0.400 Biomarker disease BEFREE Lynch syndrome due to pathogenic variants in the DNA mismatch repair genes MLH1, MSH2, and MSH6 is predominantly associated with colorectal and endometrial cancer, although extracolonic cancers have been described within the Lynch tumor spectrum. 30161022 2018
CUI: C0007103
Disease: Malignant neoplasm of endometrium
Malignant neoplasm of endometrium
0.400 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: C0007103
Disease: Malignant neoplasm of endometrium
Malignant neoplasm of endometrium
0.400 Biomarker disease BEFREE Here we describe our institution's experience with a prospective universal screening protocol in which all ECs resected over a period of 19 months (n=242) were screened for MLH1, PMS2, MSH2, and MSH6 deficiencies using IHC, followed by MLH1 promoter methylation testing when appropriate. 27556954 2017
CUI: C0007103
Disease: Malignant neoplasm of endometrium
Malignant neoplasm of endometrium
0.400 GeneticVariation disease BEFREE Analysis of the MMR genes, in particular MSH6, seems to be appropriate in women with endometrial cancer and a family history of tumours associated with LS. 27398995 2016
CUI: C0007103
Disease: Malignant neoplasm of endometrium
Malignant neoplasm of endometrium
0.400 AlteredExpression disease BEFREE Multivariate survival analysis revealed that MSH6 gene expression was associated with outcome of endometrial cancer patients independently from traditional prognostic clinicopathologic parameters, which was confirmed in an independent cohort at the protein level. 27420608 2016
CUI: C0007103
Disease: Malignant neoplasm of endometrium
Malignant neoplasm of endometrium
0.400 GeneticVariation disease BEFREE Lynch syndrome (LS) is an autosomal-dominant inherited disorder mainly caused by a germline mutation in the DNA mismatch repair (MMR) genes (MLH1, MSH2, MSH6, and PMS2) and is associated with increased risk for various cancers, particularly colorectal cancer and endometrial cancer (EC). 26848797 2016
CUI: C0007103
Disease: Malignant neoplasm of endometrium
Malignant neoplasm of endometrium
0.400 AlteredExpression disease BEFREE Endometrial cancer of the proband was investigated for microsatellite instability (MSI) and immunohistochemical expression of MLH1, MSH2 and MSH6 proteins. 23695190 2014
CUI: C0007103
Disease: Malignant neoplasm of endometrium
Malignant neoplasm of endometrium
0.400 GeneticVariation disease BEFREE Women with MSH6 mutations have a similar risk of endometrial cancer but a later age of diagnosis. 23765559 2013
CUI: C0007103
Disease: Malignant neoplasm of endometrium
Malignant neoplasm of endometrium
0.400 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: C0007103
Disease: Malignant neoplasm of endometrium
Malignant neoplasm of endometrium
0.400 GeneticVariation disease BEFREE Lynch syndrome, which is associated with mutations in 1 of 4 mismatch repair genes (MLH1, MSH2, MSH6, and PMS2), is a well-described hereditary cancer predisposition syndrome associated with a substantial risk of colon, rectum, and endometrial cancer. 22846734 2013
CUI: C0007103
Disease: Malignant neoplasm of endometrium
Malignant neoplasm of endometrium
0.400 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: C0007103
Disease: Malignant neoplasm of endometrium
Malignant neoplasm of endometrium
0.400 GeneticVariation disease BEFREE MSH6*c.3984_3987dupGTCA was found in 8/2685 CRC cases, 2/337 EnCa cases, and 1/3310 controls, consistent with a high risk of CRC (odds ratio (OR) = 9.9, 95% confidence interval (CI) = 1.2–78.9, p = 0.0079) and a very high risk of EnCa (OR = 19.6, 95% CI = 1.8–217.2, p = 0.0006). 21155762 2011
CUI: C0007103
Disease: Malignant neoplasm of endometrium
Malignant neoplasm of endometrium
0.400 GeneticVariation disease BEFREE The Lynch syndrome (LS) is an inherited cancer syndrome showing a preponderance of colorectal cancer (CRC) in context with endometrial cancer and several other extracolonic cancers, which is due to pathogenic mutations in the mismatch repair (MMR) genes, MLH1, MSH2, MSH6, and PMS2. 21769135 2011
CUI: C0007103
Disease: Malignant neoplasm of endometrium
Malignant neoplasm of endometrium
0.400 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. 21791569 2011
CUI: C0007103
Disease: Malignant neoplasm of endometrium
Malignant neoplasm of endometrium
0.400 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: C0007103
Disease: Malignant neoplasm of endometrium
Malignant neoplasm of endometrium
0.400 GeneticVariation disease BEFREE We estimated the association between BMI at age 18-20 years and endometrial cancer risk for mismatch repair gene mutation carriers and, as a comparison group, noncarriers using 601 female carriers of a germline mutation in a mismatch repair gene (245 MLH1, 299 MSH2, 38 MSH6, and 19 PMS2) and 533 female noncarriers from the Colon Cancer Family Registry using a weighted Cox proportional hazards regression. 21422863 2011
CUI: C0007103
Disease: Malignant neoplasm of endometrium
Malignant neoplasm of endometrium
0.400 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: C0007103
Disease: Malignant neoplasm of endometrium
Malignant neoplasm of endometrium
0.400 GeneticVariation disease BEFREE Unselected Jewish women with EC who were diagnosed from January 1982 to January 2008 were genotyped for the predominant mutations in Jewish individuals in BRCA1 (185delAG, 5382InsC, Tyr978X) BRCA2 (6174delT), MSH2 (A636P, 324delCA) and MSH6 (c.3984_3987dup). 20850175 2010
CUI: C0007103
Disease: Malignant neoplasm of endometrium
Malignant neoplasm of endometrium
0.400 GeneticVariation disease BEFREE The mean age of earliest onset of endometrial cancer (56.5 yr) is older than for colorectal cancer (51.2 yr) in carriers of MSH6 mutation. 19492230 2009
CUI: C0007103
Disease: Malignant neoplasm of endometrium
Malignant neoplasm of endometrium
0.400 Biomarker disease BEFREE To our knowledge, this is the first report to show that hMSH6 (C8) has an important role as an MSI target gene in sporadic endometrial cancer. 19787250 2009
CUI: C0007103
Disease: Malignant neoplasm of endometrium
Malignant neoplasm of endometrium
0.400 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: C0007103
Disease: Malignant neoplasm of endometrium
Malignant neoplasm of endometrium
0.400 Biomarker disease BEFREE Loss of MSH2 and MSH6 was detected in all of the affected clear cell carcinomas and a synchronous endometrial cancer with endometrioid histology. 18469706 2008
CUI: C0007103
Disease: Malignant neoplasm of endometrium
Malignant neoplasm of endometrium
0.400 Biomarker disease BEFREE Among patients who underwent hysterectomy for endometrial cancer at Seoul National University Hospital from 1996 to 2004, 113 patients were included, whose family history and clinical data could be obtained and tumor specimens were available for microsatellite instability (MSI) testing and immunohistochemical (IHC) staining of MLH1, MSH2 and MSH6 proteins. 17973265 2008