Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon
0.500 GeneticVariation BEFREE Defects in MMR genes are known to be crucial for familial form of colorectal cancer but our findings suggest that specific genetic variations in MLH1 are important also in the individual predisposition to sporadic colon cancer. 31209889

2020

Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon
0.500 Biomarker BEFREE We compared cases with absent to weak MLH1-staining (immunoscores 0 to 2) to cases with elevated immunoscores (3 to 12) detecting a statistically significant difference between HNPCC-associated and sporadic colon cancers (p value = 0.0031, Fisher's exact test). 30613919

2019

Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon
0.500 Biomarker BEFREE Mlh1 deficiency in normal mouse colon mucosa associates with chromosomally unstable colon cancer. 29701748

2018

Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon
0.500 Biomarker BEFREE Loss of MLH1 sensitizes colon cancer cells to DNA-PKcs inhibitor KU60648. 28224663

2017

Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon
0.500 GeneticVariation BEFREE Our aim was to determine the effect of the single nucleotide polymorphisms (SNP) -93G>A of the MLH1 gene (rs1800734) and rs4987188" genes_norm="4436">Gly322Asp of the MSH2 gene (rs4987188) on the risk of colon cancer (CC) and identify any relationship with clinical factors. 29181059

2017

Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon
0.500 AlteredExpression 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

2017

Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon
0.500 AlteredExpression BEFREE In patients with colon cancer, miR-449a expression was inversely correlated with disease-free survival and histological scores and was positively correlated with the expression of MLH1 for which loss-of function mutations have been shown to be involved in colon cancer. 28878284

2017

Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon
0.500 GeneticVariation BEFREE The distributions of cancer deaths in 485 individuals from 67 families with LS (35, 30, and two families with MutL homologue 1 (MLH1), MSH2, and MSH6 gene mutations, respectively), obtained from the Registry of the Japanese Society for Cancer of the Colon and Rectum were analyzed. 27069191

2016

Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon
0.500 AlteredExpression BEFREE Treatment of MLH1-methylated colon cancer cell lines with the demethylating agent 5'-aza-2'-deoxycytidine induces the expression of MLH1 and sensitizes cancer cells to 5-fluorouracil. 26967246

2016

Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon
0.500 Biomarker BEFREE A smaller 7-gene panel showed high sensitivity and specificity in identifying BRAF-mutant, CpG island methylator phenotype high, and MLH1-silenced colon cancers. 27026680

2016

Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon
0.500 AlteredExpression 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
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon
0.500 AlteredExpression BEFREE The expression of hMLH1, hMSH2, hMSH6, and hPMS2 in the resected tumor tissues was examined by SP immunohistochemistry, in order to analyze the relationship between defective DNA MMR (dMMR) and the clinico-pathological features and prognosis of colon cancer. 27706583

2016

Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon
0.500 AlteredExpression BEFREE Interestingly, immunohistochemical staining showed that the expression of MLH1 was lost in the colon cancer as well as the ovarian teratoma. 27938333

2016

Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon
0.500 GeneticVariation BEFREE Using data from the Colon Cancer Family Registry, we compared the proportion of childhood cancers (diagnosed before 18 years of age) in the first-, second-, and third-degree relatives of 781 probands with a pathogenic mutation in one of the MMR genes; MLH1 (n = 275), MSH2 (n = 342), MSH6 (n = 99), or PMS2 (n = 55) or in EPCAM (n = 10) (Lynch syndrome families), with that of 5073 probands with MMR-deficient colorectal cancer (non-Lynch syndrome families). 25963852

2015

Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon
0.500 Biomarker BEFREE Regulation of TS by irinotecan was evaluated by western blotting and quantitative real-time PCR assay. dMMR accounted for 18.5 % and was related with proximal colon cancer (p = 0.005), poorly differentiated tumors (p = 0.018) and favorable efficacy with a higher disease control rate (DCR), a longer progression-free survival (PFS) and a trend of longer overall survival (OS). dMMR colon cancer cells were more sensitive to irinotecan. 26142736

2015

Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon
0.500 GeneticVariation BEFREE A novel deletion in the splice donor site of MLH1 exon 6 in a Japanese colon cancer patient with Lynch syndrome. 26185136

2015

Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon
0.500 GeneticVariation 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

2015

Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon
0.500 Biomarker 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

2015

Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon
0.500 GeneticVariation CLINVAR Evidence for presence of mismatch repair gene expression positive Lynch syndrome cases in India. 25420488

2015

Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon
0.500 GeneticVariation 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

2015

Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon
0.500 GeneticVariation 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

2014

Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon
0.500 AlteredExpression BEFREE Nine cancer cell lines as well as fresh and paraffin embedded colon cancer tissue from 12 patients were used in gene expression studies of SPTAN1 and MLH1. 24456667

2014

Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon
0.500 GeneticVariation 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
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon
0.500 GeneticVariation 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

2014

Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon
0.500 Biomarker 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

2014