MLH1, mutL homolog 1, 4292

N. diseases: 526; N. variants: 757
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0009375
Disease: Colonic Neoplasms
Colonic Neoplasms
0.400 AlteredExpression group BEFREE Since the molecular testing of colon tumors for MLH1 expression is a clinical standard we believe that MLH1 is a much better marker and a greater number of patients would benefit from KU60648 treatment. 28224663 2017
CUI: C0009375
Disease: Colonic Neoplasms
Colonic Neoplasms
0.400 Biomarker group CTD_human Silencing of the DNA mismatch repair gene MLH1 induced by hypoxic stress in a pathway dependent on the histone demethylase LSD1. 25043185 2014
CUI: C0009375
Disease: Colonic Neoplasms
Colonic Neoplasms
0.400 GeneticVariation group BEFREE A CIMP(+)/BRAF(V600E)/MLH1(-) phenotype was found in 3/4 right colon tumors. 24503755 2014
CUI: C0009375
Disease: Colonic Neoplasms
Colonic Neoplasms
0.400 PosttranslationalModification group BEFREE We studied a set of 46 MSI-H colon tumors cases with MLH1 promoter methylation which was enriched for patients with an age of onset below 50 years (n=13). 20444249 2010
CUI: C0009375
Disease: Colonic Neoplasms
Colonic Neoplasms
0.400 GeneticVariation group LHGDN The MLH1 -93 G>A promoter polymorphism and genetic and epigenetic alterations in colon cancer. 18615680 2008
CUI: C0009375
Disease: Colonic Neoplasms
Colonic Neoplasms
0.400 GeneticVariation group BEFREE Linoleic acid, the most abundant polyunsaturated fatty acid in the diet, was associated with increased risk of colon tumors with only a KRAS mutation and no additional truncating APC mutation or lack of MLH1 expression (RR = 1.41, 95% CI 1.18-1.69 for one standard deviation (i.e., 7.5 g/day) increase in intake, p-trend over the quartiles of intake <0.001). 17636402 2007
CUI: C0009375
Disease: Colonic Neoplasms
Colonic Neoplasms
0.400 AlteredExpression group LHGDN Decreased expression of hMLH1 correlates with reduced 5-fluorouracil-mediated apoptosis in colon cancer cells. 17914563 2007
CUI: C0009375
Disease: Colonic Neoplasms
Colonic Neoplasms
0.400 AlteredExpression group BEFREE In contrast, it was positively associated with APC(+) colon tumors in men (highest vs. lowest tertile: RR 2.77, 95% CI 1.29-5.95, P(trend) = 0.008) and was even stronger when the lack of hMLH1 expression and K-ras mutations were excluded (RR 3.99, 95% CI 1.43-11.14, P(trend) = 0.007). 17116713 2006
CUI: C0009375
Disease: Colonic Neoplasms
Colonic Neoplasms
0.400 AlteredExpression group LHGDN The role of MLH1, MSH2 and MSH6 in the development of multiple colorectal cancers. 16106253 2005
CUI: C0009375
Disease: Colonic Neoplasms
Colonic Neoplasms
0.400 AlteredExpression group LHGDN Expression of the hMLH1 and hMSH2 proteins in normal tissues: relationship to cancer predisposition in hereditary non-polyposis colon cancer. 15735976 2005
CUI: C0009375
Disease: Colonic Neoplasms
Colonic Neoplasms
0.400 Biomarker group BEFREE Here, we report a striking association of BRAF, but not of APC, KRAS2, AXIN2, and TP53 mutations, with proximal mismatch-repair-deficient colon tumors and MLH1 hypermethylation. 14695993 2004
CUI: C0009375
Disease: Colonic Neoplasms
Colonic Neoplasms
0.400 AlteredExpression group BEFREE Ten percent of tumors showed loss of hMLH1 expression and 1.2% showed loss of hMSH2 expression. hMLH1 loss was more frequent in women (P < .001), older patients (P = .004), earlier stage tumors (P = .0001), and proximal colon tumors ( P < .0001). 15551255 2004
CUI: C0009375
Disease: Colonic Neoplasms
Colonic Neoplasms
0.400 GeneticVariation group LHGDN Colorectal cancer prevention. 15375803 2004
CUI: C0009375
Disease: Colonic Neoplasms
Colonic Neoplasms
0.400 Biomarker group BEFREE As candidates for PMS2 mutations, we selected seven patients whose colon tumors stained negative for PMS2 and positive for MLH1 by immunohistochemistry. 15256438 2004
CUI: C0009375
Disease: Colonic Neoplasms
Colonic Neoplasms
0.400 GeneticVariation group LHGDN Genetics supersedes epigenetics in colon cancer phenotype. 12957287 2003
CUI: C0009375
Disease: Colonic Neoplasms
Colonic Neoplasms
0.400 AlteredExpression group BEFREE These four colorectal tumors, a colon tumor cell line (SW48) and an endometrial tumor cell line (AN3CA), did not express hMLH1, despite the absence of mutations in its coding sequence. 9041175 1997
CUI: C0009375
Disease: Colonic Neoplasms
Colonic Neoplasms
0.400 Biomarker group BEFREE The repair deficiency was complemented by a colon tumor cell extract that was defective in the hMLH1 protein but not by an extract defective in hMSH2 protein. 7585651 1995
CUI: C0009375
Disease: Colonic Neoplasms
Colonic Neoplasms
0.400 Biomarker group BEFREE The human colon tumor cell line HCT116 is deficient in wild-type hMLH1, is defective in mismatch repair (MMR), exhibits microsatellite instability, and is tolerant to N-methyl-N'-nitro-N-nitrosoguanidine (MNNG). 7641183 1995
CUI: C0009375
Disease: Colonic Neoplasms
Colonic Neoplasms
0.400 GeneticVariation group BEFREE The human colon tumor cell line HCT 116 is known to have a homozygous mutation in the mismatch repair gene hMLH1 on human chromosome 3, to exhibit microsatellite instability, and to be defective in mismatch repair. 8044777 1994