Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
0.150 CausalMutation group CLINVAR Clinical and Genetic Implications of DNA Mismatch Repair Deficiency in Biliary Tract Cancers Associated with Lynch Syndrome. 29238914 2018
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
0.150 CausalMutation group CLINVAR Comprehensive analysis of the MLH1 promoter region in 480 patients with colorectal cancer and 1150 controls reveals new variants including one with a heritable constitutional MLH1 epimutation. 29472279 2018
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
0.150 CausalMutation group CLINVAR Germline Mutations in Cancer Susceptibility Genes in a Large Series of Unselected Breast Cancer Patients. 28724667 2017
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
0.150 CausalMutation group CLINVAR Multigene Panel Testing Provides a New Perspective on Lynch Syndrome. 28514183 2017
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
0.150 CausalMutation group CLINVAR Hereditary cancer syndromes in Latino populations: genetic characterization and surveillance guidelines. 28127413 2017
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
0.150 CausalMutation group CLINVAR Cancer Susceptibility Gene Mutations in Individuals With Colorectal Cancer. 28135145 2017
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
0.150 CausalMutation group CLINVAR Pancreatic Cancer in Lynch Syndrome Patients. 29151953 2017
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
0.150 CausalMutation group CLINVAR Prevalence and Spectrum of Germline Cancer Susceptibility Gene Mutations Among Patients With Early-Onset Colorectal Cancer. 27978560 2017
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
0.150 CausalMutation group CLINVAR A survey of the clinicopathological and molecular characteristics of patients with suspected Lynch syndrome in Latin America. 28874130 2017
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
0.150 CausalMutation group CLINVAR Assessment of the InSiGHT Interpretation Criteria for the Clinical Classification of 24 MLH1 and MSH2 Gene Variants. 27629256 2017
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
0.150 CausalMutation group CLINVAR Spectrum of mismatch repair gene mutations and clinical presentation of Hispanic individuals with Lynch syndrome. 28449805 2017
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
0.150 CausalMutation group CLINVAR A molecular inversion probe-based next-generation sequencing panel to detect germline mutations in Chinese early-onset colorectal cancer patients. 28445943 2017
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
0.150 CausalMutation group CLINVAR New EPCAM founder deletion in Polish population. 28369810 2017
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
0.150 GeneticVariation group CLINVAR Mismatch repair gene mutation spectrum in the Swedish Lynch syndrome population. 27601186 2016
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
0.150 GeneticVariation group BEFREE Lynch syndrome is a hereditary cancer syndrome associated with high risks of colorectal and endometrial cancer that is caused by pathogenic variants in the mismatch repair genes (MLH1, MSH2, MSH6, PMS2, EPCAM). 27363726 2016
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
0.150 CausalMutation group CLINVAR Two novel sequence variants in MSH2 gene in a patient who underwent cancer genetic counseling for a very early-onset epithelial ovarian cancer. 27602174 2016
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
0.150 CausalMutation group CLINVAR Systematic immunohistochemical screening for Lynch syndrome in colorectal cancer: a single centre experience of 486 patients. 27152634 2016
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
0.150 CausalMutation group CLINVAR Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing. 26681312 2016
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
0.150 GeneticVariation group CLINVAR Exonic Splicing Mutations Are More Prevalent than Currently Estimated and Can Be Predicted by Using In Silico Tools. 26761715 2016
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
0.150 CausalMutation group CLINVAR Prevalence of Lynch syndrome in unselected patients with endometrial or ovarian cancer. 27535758 2016
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
0.150 CausalMutation group CLINVAR [Founder mutation in Lynch syndrome]. 27295708 2016
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
0.150 CausalMutation group CLINVAR Exonic Splicing Mutations Are More Prevalent than Currently Estimated and Can Be Predicted by Using In Silico Tools. 26761715 2016
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
0.150 GeneticVariation group CLINVAR Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing. 26681312 2016
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
0.150 GeneticVariation group CLINVAR Mismatch repair deficiency concordance between primary colorectal cancer and corresponding metastasis. 26666765 2016
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
0.150 CausalMutation group CLINVAR Germline mutations in PMS2 and MLH1 in individuals with solitary loss of PMS2 expression in colorectal carcinomas from the Colon Cancer Family Registry Cohort. 26895986 2016