MLH1, mutL homolog 1, 4292

N. diseases: 526; N. variants: 757
Disease: Breast Cancer, Familial ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial 		0.320 Biomarker disease CLINGEN Associations Between Cancer Predisposition Testing Panel Genes and Breast Cancer. 28418444 2017
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial 		0.320 Biomarker disease CLINGEN Lynch syndrome caused by MLH1 mutations is associated with an increased risk of breast cancer: a cohort study. 26101330 2015
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial 		0.320 Biomarker disease CLINGEN Risks of less common cancers in proven mutation carriers with lynch syndrome. 23091106 2012
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial 		0.320 Biomarker disease CLINGEN Colorectal and other cancer risks for carriers and noncarriers from families with a DNA mismatch repair gene mutation: a prospective cohort study. 22331944 2012
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial 		0.320 Biomarker disease CLINGEN The extracolonic cancer spectrum in females with the common 'South African' hMLH1 c.C1528T mutation. 18049911 2008
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial 		0.320 GeneticVariation disease BEFREE We conclude that DNA mismatch repair defects involving hMLH1 and hMSH2 underexpression are extremely rare events in sporadic and familial breast cancer. 14520695 2003
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial 		0.320 Biomarker disease CLINGEN Hereditary nonpolyposis colorectal cancer in 95 families: differences and similarities between mutation-positive and mutation-negative kindreds. 11112663 2001
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial 		0.320 GeneticVariation disease BEFREE Four specific epigenetic lesions, promoter hypermethylation of the DNA mismatch repair gene hMLH1, the DNA alkyl-repair gene O(6)-methylguanine-DNA methyltransferase (MGMT), the detoxifier glutathione S-transferase P1 (GSTP1) and the familial breast cancer gene BRCA1 may lead to four specific genetic lesions, microsatellite instability, G to A transitions, steroid-related adducts and double-strand breaks in DNA. 11094302 2000