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: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary
0.570 Biomarker disease BEFREE Two hundred eighty-eight (288) cases of OC including the major histological types were analyzed by immunohistochemistry for PD-L1HER2, ALK, and the mismatch repair (MMR) proteins MLH1, PMS2, MSH2, and MSH6. 30734108 2019
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary
0.570 Biomarker disease BEFREE Germline mutations in MLH1, MSH2 and MSH6 are rare among unselected cases of ovarian cancer. 28176205 2017
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary
0.570 Biomarker disease BEFREE Clinicopathologic features and the expression pattern of MMR proteins (MLH1, MSH2, and MSH6) were characterized and analyzed in 32 synchronous primary endometrial and ovarian cancers. 25695547 2015
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary
0.570 GeneticVariation disease BEFREE Women with a germline mutation in one of the MMR genes MLH1, MSH2 or MSH6 reportedly have 4-12% lifetime risk of ovarian cancer, but there is limited knowledge on survival. 19635727 2010
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary
0.570 AlteredExpression disease BEFREE MMR-deficient ovarian cancer is frequently associated with loss of expression of MSH2 and MSH6 proteins and clear cell histology. 18469706 2008
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary
0.570 AlteredExpression disease BEFREE The purpose of our study was to determine the likelihood of MMR defects (MSH2, MSH6, MLH1) in women with synchronous endometrial and ovarian cancer. 16361634 2005
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary
0.570 GeneticVariation disease BEFREE Our results and reports by others indicate that, besides colorectal and endometrial cancer, the late-onset endometrioid type of ovarian cancer can be a feature of families with MSH6 germline mutations. 12376742 2002
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary
0.570 CausalMutation disease CGI
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary
0.570 Biomarker disease GENOMICS_ENGLAND