Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
0.500 AlteredExpression disease BEFREE Impact of MLH1 expression on tumor evolution after curative surgical tumor resection in a murine orthotopic xenograft model for human MSI colon cancer. 28512763 2018
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
0.500 Biomarker disease BEFREE Loss of MLH1 sensitizes colon cancer cells to DNA-PKcs inhibitor KU60648. 28224663 2017
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
0.500 GeneticVariation disease BEFREE A novel deletion in the splice donor site of MLH1 exon 6 in a Japanese colon cancer patient with Lynch syndrome. 26185136 2016
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
0.500 Biomarker disease BEFREE Microsatellite instability test and immunohistochemical examination of β-catenin and MLH1 proteins of these tumors showed that WNT signaling or microsatellite instability was less likely to be involved in the present tumors as observed in conventional left-sided or right-sided colon cancers, respectively. 26191323 2016
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
0.500 Biomarker disease BEFREE Our study favors an increased sensitivity of irinotecan in colon cancer with dMMR status. 26142736 2016
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
0.500 GeneticVariation disease BEFREE Approximately one quarter of colon cancers with deficient MMR (dMMR) develop as a result of an inherited predisposition syndrome, Lynch syndrome (formerly known as HNPCC). 26315971 2016
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
0.500 GeneticVariation disease BEFREE From the Colon Cancer Family Registry, we identified 10 carriers who had both a MUTYH mutation (6 with c.1187G>A p.(Gly396Asp), 3 with c.821G>A p.(Arg274Gln), and 1 with c.536A>G p.(Tyr179Cys)) and a MMR gene mutation (3 in MLH1, 6 in MSH2, and 1 in PMS2), 375 carriers of a single (monoallelic) MUTYH mutation alone, and 469 carriers of a MMR gene mutation alone. 26202870 2016
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
0.500 GeneticVariation disease BEFREE The proportion of deaths from extra-colonic cancer was significantly higher in families with MSH2 mutation than in those with MLH1 mutation (p=0.003). 27069191 2016
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
0.500 AlteredExpression disease BEFREE 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
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
0.500 GeneticVariation disease BEFREE Prostate cancers (mean age at diagnosis = 62 ± SD = 8 years) from 32 MMR mutation carriers (23 MSH2, 5 MLH1 and 4 MSH6) enrolled in the Australasian, Mayo Clinic and Ontario sites of the Colon Cancer Family Registry were examined for clinico-pathologic features and MMR-deficiency (immunohistochemical loss of MMR protein expression and high levels of microsatellite instability; MSI-H). 25117503 2015
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
0.500 Biomarker disease CTD_human Knockdown of LSD1 or its corepressor, CoREST, also prevents the resilencing (and associated cytosine DNA methylation) of the endogenous MLH1 promoter in RKO colon cancer cells following transient reactivation by treatment with the DNA methyltransferase inhibitor 5-aza-2'-deoxycytidine (5-aza-dC). 25043185 2015
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
0.500 GeneticVariation disease BEFREE Among all the 32 families with mutations, families with hMSH2 mutation had a higher ratio of synchronous and metachronous colon cancers than families with hMLH1 mutation (33 vs. 6%, P=0.04). 25216868 2015
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
0.500 PosttranslationalModification disease BEFREE Knockdown of LSD1 or its corepressor, CoREST, also prevents the resilencing (and associated cytosine DNA methylation) of the endogenous MLH1 promoter in RKO colon cancer cells following transient reactivation by treatment with the DNA methyltransferase inhibitor 5-aza-2'-deoxycytidine (5-aza-dC). 25043185 2015
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
0.500 GeneticVariation disease BEFREE When stratified by tumor location, hMLH1 -93G>A and IVS3-1403A>T were associated with colon cancer survival (for hMLH1 -93G>A, AA+AG vs. GG, HRadj = 0.34, 95 % CI 0.17-0.68, p < 0.01; for hMLH1 IVS3-1403A>T, AT vs. AA, HR(adj) = 2.20, 95 % CI 1.11-4.36, p = 0.02), rather than rectal cancer. 24793746 2015
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
0.500 GeneticVariation disease BEFREE The most common hereditary colon cancer susceptibility condition, Lynch syndrome (LS), previously known as hereditary nonpolyposis colorectal cancer, is an autosomal dominant condition caused by a germline mutation in 1 of 4 DNA mismatch repair (MMR) genes: MLH1, MSH2, MSH6, or PMS2. 24051481 2015
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
0.500 Biomarker disease CTD_human Our findings suggest that LSD1/CoREST acts as a colon cancer oncogene by epigenetically silencing MLH1 and also identify the LSD1/CoREST complex as a potential target for therapy. 25043185 2015
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
0.500 GeneticVariation disease BEFREE We describe a patient with a Homo sapiens mutL homolog 1 (MLH1)-associated Lynch syndrome with previous diagnoses of two distinct primary cancers: a sigmoid colon cancer at the age of 39 years, and a right colon cancer at the age of 50 years. 23112559 2014
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
0.500 Biomarker disease BEFREE Reduced migration of MLH1 deficient colon cancer cells depends on SPTAN1. 24456667 2014
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
0.500 Biomarker disease BEFREE Influence of MLH1 on colon cancer sensitivity to poly(ADP-ribose) polymerase inhibitor combined with irinotecan. 23653048 2014
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
0.500 GeneticVariation disease BEFREE The aim of the study was to compare the distribution of MLH1 -93G>A genotypes between patients with familial colon cancer, sporadic colon cancer and healthy subjects. 23374646 2014
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
0.500 GeneticVariation disease BEFREE We obtained data from the Colon Cancer Family Registry for 764 carriers of an MMR gene mutation (316 MLH1, 357 MSH2, 49 MSH6, and 42 PMS2), who had a previous diagnosis of colorectal cancer. 23796201 2014
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
0.500 GeneticVariation disease BEFREE Mutations in the mismatch repair (MMR) genes MSH2, MSH6, MLH1 and PMS2 are associated with Lynch Syndrome (LS), a familial predisposition to early-onset cancer of the colon and other organs. 24829445 2014
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
0.500 Biomarker disease BEFREE Lynch syndrome (Hereditary nonpolyposis colorectal cancer, HNPCC) is an inherited disease with variable phenotype causing the development of colon cancer and other malignancies. 22395473 2013
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
0.500 GeneticVariation disease BEFREE Identification of constitutional MLH1 epimutations and promoter variants in colorectal cancer patients from the Colon Cancer Family Registry. 22878509 2013
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
0.500 GeneticVariation disease BEFREE Our findings identified a novel Alu-mediated rearrangement within MSH2 gene and showed that large deletions or duplications in MLH1 and MSH2 genes are low-frequency mutational events in Southern Italian patients with an inherited predisposition to colon cancer. 23484096 2013