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: C0001418
Disease: Adenocarcinoma
Adenocarcinoma
0.100 Biomarker group BEFREE We stained 104 gastric adenocarcinomas for MLH1, p53, and EBER in situ hybridization. 27342907 2016
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma
0.100 PosttranslationalModification group LHGDN We sought then to determine the prevalence of HPP1 silencing by DNA methylation in gastric adenocarcinomas and to define any association of this event with microsatellite instability (MSI) or hMLH1 hypermethylation. 12384516 2002
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma
0.100 PosttranslationalModification group BEFREE We sought then to determine the prevalence of HPP1 silencing by DNA methylation in gastric adenocarcinomas and to define any association of this event with microsatellite instability (MSI) or hMLH1 hypermethylation. 12384516 2002
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma
0.100 PosttranslationalModification group BEFREE We previously developed a novel tumor subtype classification model for duodenal adenocarcinomas based on a combination of the CpG island methylator phenotype (CIMP) and MLH1 methylation status. 27880934 2016
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma
0.100 PosttranslationalModification group BEFREE We conclude that although RAB32 methylation is rare in endometrial cancers, it is strongly associated with hMLH1 hypermethylation and MSI in gastric adenocarcinomas. 16557577 2006
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma
0.100 AlteredExpression group BEFREE We classified a cohort of 349 successive gastric adenocarcinomas into 5 subtypes, on the basis of protein or mRNA expression of MLH1, E-cadherin, p53, and Epstein-Barr virus. 27819872 2017
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma
0.100 GeneticVariation group BEFREE We analyzed 100 sporadic and 3 hereditary pancreatic ductal adenocarcinomas for MSI, and high-frequency MSI (MSI-H) and low-frequency MSI (MSI-L) tumors were further analyzed for frameshift mutations of possible target genes and for promoter methylation and mutation of DNA MMR genes, including hMLH1, hMSH2, hMSH3, and hMSH6 genes. 11306499 2001
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma
0.100 GeneticVariation group BEFREE We analysed the methylation status of the tumor suppressor gene p16, the DNA mismatch repair gene hMLH1, and four CpG islands (MINT1, MINT2, MINT25, and MINT31) using methylation-specific polymerase chain reaction in 35 polypoid adenomas and 46 flat dysplasias unassociated with carcinoma, 34 early adenocarcinomas (T1N0M0) and associated adenomas/dysplasias, and corresponding adjacent non-neoplastic mucosa. 15064707 2004
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma
0.100 Biomarker group BEFREE Twelve carcinomas with a mucinous phenotype (8 mucinous noncystic carcinomas, 3 intraductal papillary-mucinous carcinomas with an invasive muconodular component, and 1 ductal adenocarcinoma with an extensive mucinous noncystic component) and 11 ductal adenocarcinomas were immunostained with monoclonal antibodies to the mismatch repair gene products hMLH1, hMSH2, and hMSH6. 12808058 2003
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma
0.100 Biomarker group BEFREE To verify the methylation status of CDH1, DAPK, COX2, hMLH1 and CDKN2A genes and to evaluate their association with Helicobacter pylori (H. pylori)-cagA(+) and Epstein Barr virus (EBV) infections in gastric adenocarcinomas. 20082476 2010
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma
0.100 GeneticVariation group BEFREE This retrospective study included 40 squamous cell carcinomas and 40 adenocarcinomas in various surgical TNM stages to define methylation profile and possible silencing of DNA repair genes - MLH1 and MSH2 - using Methylation-Specific PCR and protein expression by immunohistochemistry in tumoural tissue, preneoplastic lesions and respiratory epithelium with normal histological features. 24360395 2014
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma
0.100 Biomarker group BEFREE This raises the question whether these morphological subtypes should be maintained or whether an alternative classification of poorly differentiated colorectal adenocarcinomas based on MLH-1 status rather than morphology should be suggested. 25339302 2015
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma
0.100 AlteredExpression group LHGDN These results suggest that microsatellite-unstable mucinous carcinoma occurring in the elderly shares clinicopathological and molecular features with medullary type poorly differentiated adenocarcinoma and that microsatellite instability with absent hMLH1 expression plays an important role in the development of these two carcinomas. 17316416 2007
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma
0.100 AlteredExpression group BEFREE These results suggest that microsatellite-unstable mucinous carcinoma occurring in the elderly shares clinicopathological and molecular features with medullary type poorly differentiated adenocarcinoma and that microsatellite instability with absent hMLH1 expression plays an important role in the development of these two carcinomas. 17316416 2007
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma
0.100 PosttranslationalModification group BEFREE These results indicated that hMLH1 hypermethylation, concurrent with a lack of its protein expression, may play an important role in the development of medullary-type poorly differentiated colorectal adenocarcinomas in the elderly. 14657958 2004
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma
0.100 AlteredExpression group LHGDN These results indicate that an age-related increase of medullary-type tumors in poorly differentiated adenocarcinoma may play an important role in the increase of absent hMLH1 expression and MSI in colorectal carcinoma. 16984616 2006
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma
0.100 AlteredExpression group BEFREE These results indicate that an age-related increase of medullary-type tumors in poorly differentiated adenocarcinoma may play an important role in the increase of absent hMLH1 expression and MSI in colorectal carcinoma. 16984616 2006
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma
0.100 Biomarker group BEFREE These polyps contain BRAF mutations and are prone to epigenetic methylation that ultimately silences MLH1, leading to MSI and heralding progression of dysplasia to invasive adenocarcinoma. 25602793 2015
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma
0.100 GeneticVariation group BEFREE There was no significant association between the hMLH1 -93G-->A genotype and the risk for adenocarcinoma or small cell carcinoma. 15382050 2004
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma
0.100 Biomarker group BEFREE The incidence of poorly differentiated adenocarcinoma was 70.6% in HNPCC group among high frequency microsatellite instability (MSI-H), which was higher than the other two groups, which had 50% and 50% respectively. 16937450 2006
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma
0.100 Biomarker group BEFREE SFRP2 and IGF2 DMR0 showed significant methylation changes at the adenomatous polyp stage, followed by the CIMP markers CDKN2A and hMLH1 at the adenocarcinoma stage. 21068132 2011
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma
0.100 GeneticVariation group BEFREE Remarkably, in a patient with LS and germline mutation of MLH1 gene, pyloric gland adenoma (PGA) transformed to adenocarcinoma during follow-up. 24518125 2014
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma
0.100 AlteredExpression group BEFREE Overexpression of hMLH1 and the adenocarcinoma subtype were both independent factors that related to EGFR mutations in NSCLCs (p=0.013 and p<0.0005). 24205245 2013
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma
0.100 Biomarker group BEFREE Our results suggest that loss of MLH1 expression in non-dysplastic crypts in SSAs precedes the development of MLH1-deficient dysplasia and adenocarcinoma, and may be a biomarker of an advanced serrated polyp even in the absence of dysplasia. 30974487 2019
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma
0.100 PosttranslationalModification group LHGDN Our results indicate that Por tumorigenesis strongly correlates with MSI and methylation of the p16 and hMLH1 promoter region. 18161865 2008