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: C0001430
Disease: Adenoma
Adenoma
0.100 AlteredExpression group BEFREE The loss of expression of both MLH1 and PMS2 proteins was present in 6.3% of adenomas, 9.1% of adenomas with high-grade dysplasia and 9.4% of colon adenocarcinomas. 29976631 2018
CUI: C0001430
Disease: Adenoma
Adenoma
0.100 AlteredExpression group BEFREE Patients with an MMR-deficient tumor or adenoma without MLH1 promoter hypermethylation were referred for genetic analysis. 30063919 2018
CUI: C0001430
Disease: Adenoma
Adenoma
0.100 PosttranslationalModification group BEFREE MLH1 promoter methylation exhibited a poor sensitivity value (< 0.5) in patients with GC compared with adjacent tissues, gastric adenomas, chronic gastritis, normal gastric mucosa, and normal healthy blood samples. 29334683 2018
CUI: C0001430
Disease: Adenoma
Adenoma
0.100 PosttranslationalModification group BEFREE MLH1-93 G/a polymorphism is associated with MLH1 promoter methylation and protein loss in dysplastic sessile serrated adenomas with BRAF<sup>V600E</sup> mutation. 29304767 2018
CUI: C0001430
Disease: Adenoma
Adenoma
0.100 GeneticVariation group BEFREE More polyps (mostly adenomas) were detected in MLH1 carriers. 29025352 2018
CUI: C0001430
Disease: Adenoma
Adenoma
0.100 GeneticVariation group BEFREE Serrated polyps (hyperplastic polyps, sessile or traditional serrated adenomas), which can arise in a sporadic or polyposis setting, predispose to colorectal cancer (CRC), especially those with microsatellite instability (MSI) due to MLH1 promoter methylation (MLH1<sup>me+</sup>). 27329244 2017
CUI: C0001430
Disease: Adenoma
Adenoma
0.100 Biomarker group BEFREE When a precursor polyp was identified, MLH1-hypermethylated BRAF wild-type colorectal carcinomas arose from precursor polyps resembling conventional tubular/tubulovillous adenomas in contrast to MLH1-deficient BRAF-mutated colorectal carcinomas, which arose from precursor sessile serrated adenomas (P<0.001). 27438990 2016
CUI: C0001430
Disease: Adenoma
Adenoma
0.100 AlteredExpression group BEFREE Advanced traditional serrated adenomas retained MLH1 expression in 97%, showed strong p53 staining in 55%, and nuclear β-catenin staining in 40%. 25216220 2015
CUI: C0001430
Disease: Adenoma
Adenoma
0.100 Biomarker group BEFREE To clarify differences in WNT signaling activation in association with MLH1 methylation or BRAF/KRAS mutations between serrated and conventional routes, we performed β-catenin immunostaining, methylation-specific PCR for MLH1 and WNT signaling associated genes such as AXIN2, APC, and MCC and secreted frizzled-related proteins (SFRPs), and direct sequencing of BRAF/KRAS in 27 SSA/Ps, 14 SSA/Ps with high-grade dysplasia and 9 SSA/Ps with submucosal carcinoma, as well as 19 conventional adenomas, 26 adenomas with high-grade dysplasia and 25 adenomas with submucosal carcinoma. 24925057 2015
CUI: C0001430
Disease: Adenoma
Adenoma
0.100 PosttranslationalModification group BEFREE We conclude that hypermethylation of MLH1, when occurs in an adenoma cell with BRAF oncogenic mutational activation, drives the pathway for MSI cancer by providing the cells with a mutator phenotype. 24964857 2014
CUI: C0001430
Disease: Adenoma
Adenoma
0.100 Biomarker group BEFREE The APC/β-catenin pathway was not altered, while MLH1 immunostaining was negative in RCTs and positive in adenomas and normal mucosa. 23425390 2013
CUI: C0001430
Disease: Adenoma
Adenoma
0.100 PosttranslationalModification group BEFREE Short-term folate supplementation in physiological doses has no effect on ESR1 and MLH1 methylation in colonic mucosa of individuals with adenoma. 23328702 2012
CUI: C0001430
Disease: Adenoma
Adenoma
0.100 Biomarker group BEFREE Of these patients, the MSI test and MLH1 immunohistochemistry were performed in the available tissue samples from patients with advanced adenomas. 22361441 2012
CUI: C0001430
Disease: Adenoma
Adenoma
0.100 Biomarker group BEFREE These data suggest that CpG island methylation in hMSH2 and MGMT, but not hMLH1, is closely related to carcinogenesis in colorectal carcinomas presenting with a conventional adenoma-carcinoma sequence. 21706233 2011
CUI: C0001430
Disease: Adenoma
Adenoma
0.100 GeneticVariation group BEFREE KRAS codon 12/13 and 59/61 and BRAF V600E mutations, MSI, and MGMT and hMLH1 methylation and expression in 42 serrated adenocarcinomas and 17 serrated adenomas were compared with those in 59 non-serrated colorectal carcinomas (CRCs) and nine adenomas. 21457162 2011
CUI: C0001430
Disease: Adenoma
Adenoma
0.100 AlteredExpression group BEFREE Six (33%) of 18 EPCs showed loss of Mlh1 expression, but rarely in adenomas and CIAs (p=0.008). 18097574 2008
CUI: C0001430
Disease: Adenoma
Adenoma
0.100 GeneticVariation group BEFREE Polyps coded as hyperplastic polyps (HP) from subjects with Lynch syndrome and FCF enrolled in the HNPCC-register at the Hvidovre University Hospital as well as adenomas from this population were retrieved and reviewed for features of SSP. 17929199 2008
CUI: C0001430
Disease: Adenoma
Adenoma
0.100 PosttranslationalModification group BEFREE There was no significant difference in methylation of HIC1, MINT1, MINT31, and p16. hMLH1 methylation was absent in all tubulovillous/villous adenomas and seen in only 2 (7%) tubular adenomas. 17950780 2008
CUI: C0001430
Disease: Adenoma
Adenoma
0.100 PosttranslationalModification group BEFREE Methylation of ASC/TMS1 was more common in right-sided tumors (p = 0.02), concordant with hMLH1 methylation (p = 0.03) and is a late stage event, occurring in 0 of 18 tubular adenomas, 0 of 12 villous adenomas, 2 of 44 (5%) Stage 1 cancers, 8 of 31 (26%) Stage 2 cancers, 8 of 21 (38%) Stage 3 cancers and 2 of 19 (11%) Stage 4 cancers. 17986858 2007
CUI: C0001430
Disease: Adenoma
Adenoma
0.100 GeneticVariation group BEFREE To cast light on the contribution of methylation to genesis of ulcerative colitis (UC)-associated tumors, promoter methylation and expression of O6-methylguanine DNA methyltransferase (MGMT), hMLH1, p16INK4, and E-cadherin were examined in 14 low-grade dysplasias (LGDs), 15 high-grade dysplasias (HGDs), and 14 adenocarcinomas associated with UC and, for comparison, in 30 sporadic adenomas with LGD, 30 adenomas with HGD, and 60 adenocarcinomas, using methylation-specific polymerase chain reaction and immunohistochemical analysis. 17276933 2007
CUI: C0001430
Disease: Adenoma
Adenoma
0.100 AlteredExpression group BEFREE Methylations of MGMT, CDKN2A (p16) and MLH1 were detected in 28, 33 and 9% of the 101 flat-type adenomas, respectively. 17143260 2007
CUI: C0001430
Disease: Adenoma
Adenoma
0.100 PosttranslationalModification group BEFREE MLH1 methylation in the Lynch syndrome adenomas suggests gene methylation might have a role in the initiation of these neoplasms. 17278092 2007
CUI: C0001430
Disease: Adenoma
Adenoma
0.100 GeneticVariation group BEFREE However, risk associated with the hMLH1-93A variant differed by smoking: smoking-associated risks were stronger among those with variant -93AA or -93AG genotypes, showing a twofold greater risk of adenoma with >25 pack-years of smoking compared with nonsmokers, and a corresponding eightfold greater risk of hyperplastic polyps (genotype smoking: p-interaction=0.02 for hyperplastic polyps and p-interaction=0.08 for adenomas). 16771955 2006
CUI: C0001430
Disease: Adenoma
Adenoma
0.100 PosttranslationalModification group BEFREE An hMLH1 methylation defect was seen in only one adenoma (1.3%), from a patient who had a synchronous cancer showing the same defect. 16902913 2006
CUI: C0001430
Disease: Adenoma
Adenoma
0.100 GeneticVariation group BEFREE Utilizing real-time PCR (MethyLight), we quantified DNA methylation in five CIMP-specific gene promoters [CACNA1G (calcium channel, voltage-dependent, T type alpha-1G subunit), CDKN2A (p16/INK4A), CRABP1 (cellular retinoic acid binding protein-1), MLH1 and NEUROG1 (neurogenin 1)] and MGMT in six synchronous carcinoma pairs (12 carcinomas) and eight synchronous carcinoma and adenoma pairs (16 tumors). 16699497 2006