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
Hereditary Nonpolyposis Colorectal Cancer
0.900 GeneticVariation disease BEFREE In addition, the combination of microsatellite instability testing, MLH1 promoter methylation analysis, and BRAF (V600E) mutation analysis can distinguish a sporadic colorectal cancer from one associated with HNPCC, helping to avoid costly molecular genetic testing for germline mutations in mismatch repair genes. 18556776 2008
Hereditary Nonpolyposis Colorectal Cancer
0.900 GeneticVariation disease BEFREE The level of invasive front immune cell staining was significantly higher in mismatch-repair-deficient tumors compared to mismatch-repair-proficient tumors (p < 0.001), but no difference was observed among the different subtypes of mismatch-repair-deficient tumors: Lynch syndrome-associated vs. MLH1-methylated vs. unexplained. 30166615 2019
Hereditary Nonpolyposis Colorectal Cancer
0.900 GeneticVariation disease BEFREE The reference tumor group contained 28 HNPCC with proven germ-line mutations or positive Amsterdam I criteria (median age, 37 years) and loss of MLH1 expression, 14 sporadic MSI-H CRC tumors with loss of MLH1 expression and BRAF V600E mutation (median age, 80.5 years), and 16 sporadic MSS CRC (median age, 76.5 years). 17545526 2007
Hereditary Nonpolyposis Colorectal Cancer
0.900 PosttranslationalModification disease BEFREE When BRAF was wild type in the MSI-H group, only one MLH1 promoter methylation was detected (1/4), and of the remaining three cases without MLH1 methylation, two were identified to harbor an MLH1 mutation consistent with Lynch syndrome. 23963522 2013
Hereditary Nonpolyposis Colorectal Cancer
0.900 GeneticVariation disease BEFREE This suggests that hMLH1 may have different functions in certain tissues and/or that additional factors may modify the influence of hMLH1 mutations in causing Lynch syndrome. 19142183 2009
Hereditary Nonpolyposis Colorectal Cancer
0.900 Biomarker disease BEFREE In order to better understand the role of somatic and germline alterations within hMSH2 and hMLH1 in the process of colorectal tumorigenesis, we examined the entire coding regions of both of these genes in seven patients with MIN+ sporadic colorectal cancer, 19 patients with familial colorectal cancer, and 20 patients meeting the strict Amsterdam criteria for HNPCC. 8872463 1996
Hereditary Nonpolyposis Colorectal Cancer
0.900 GeneticVariation disease BEFREE These results showed that MSH2/MLH1 rearrangements in Spanish patients at risk for HNPCC seem to be a less frequent mutational event than in other populations. 16003840 2005
Hereditary Nonpolyposis Colorectal Cancer
0.900 PosttranslationalModification disease BEFREE We sought to determine whether tumor microsatellite instability (MSI) typing along with immunohistochemistry (IHC) and MLH1 methylation analysis can help identify women with LS. 26552419 2015
Hereditary Nonpolyposis Colorectal Cancer
0.900 Biomarker disease BEFREE Germline mutations within mismatch repair genes, such as hMSH2, hMLH1, and hMSH6, have been shown to be the hallmark of the hereditary nonpolyposis colorectal cancer (HNPCC) syndrome. 11561760 2001
Hereditary Nonpolyposis Colorectal Cancer
0.900 GeneticVariation disease BEFREE We have used denaturing gradient gel electrophoresis to analyze the 19 exons and exon-intron borders of hMLH1 in 39 Swedish hereditary nonpolyposis colorectal cancer families. 8521398 1995
Hereditary Nonpolyposis Colorectal Cancer
0.900 GeneticVariation disease BEFREE Hereditary nonpolyposis colorectal cancer (HNPCC) represents 2-4% of colorectal cancers and is caused by a constitutional defect in a mismatch repair (MMR) gene, most commonly affecting the genes MLH1, MSH2, and MSH6. 14652751 2004
Hereditary Nonpolyposis Colorectal Cancer
0.900 PosttranslationalModification disease BEFREE Six hundred and fifty-four consecutive CRC patients were screened for suspected LS using MSI and absence of MLH1 methylation. 30989425 2019
Hereditary Nonpolyposis Colorectal Cancer
0.900 GeneticVariation disease BEFREE Mutations in the DNA mismatch repair gene MLH1 are a major cause of hereditary nonpolyposis colorectal cancer (HNPCC). 17260015 2007
Hereditary Nonpolyposis Colorectal Cancer
0.900 GeneticVariation disease BEFREE It has been reported that large genomic deletions in the MLH1 and MSH2 genes are a frequent cause of Lynch syndrome in certain populations. 21778331 2011
Hereditary Nonpolyposis Colorectal Cancer
0.900 Biomarker disease BEFREE We describe here analysis of hMLH1 and hMSH2 in nine Greek families referred to our centre for HNPCC. 15655560 2005
Hereditary Nonpolyposis Colorectal Cancer
0.900 Biomarker disease BEFREE For patients with Lynch Syndrome (LS) (formerly known as hereditary nonpolyposis colorectal cancer or HNPCC), inheritance of one of several mutated mismatch repair genes (MMR) results in an increased risk for a variety of malignancies including colon, rectal, endometrial, urinary tract, gastric, small bowel and others [1]. 31445773 2019
Hereditary Nonpolyposis Colorectal Cancer
0.900 GeneticVariation disease BEFREE Germline MLH1 and MSH2 mutations in Italian pancreatic cancer patients with suspected Lynch syndrome. 19728162 2009
Hereditary Nonpolyposis Colorectal Cancer
0.900 GeneticVariation disease BEFREE It is of note that mucinous tumour is one of the frequent histological features of colorectal cancer (CRC) in Lynch syndrome (LS), an autosomal dominantly inherited disease caused by a germline mutation of the DNA mismatch repair (MMR) genes including human mutL homolog 1 (MLH1), human mutS homolog 2 (MSH2), human mutS homolog 6 (MSH6), and postmeiotic segregation increased 2 (PMS2). 27938333 2016
Hereditary Nonpolyposis Colorectal Cancer
0.900 GeneticVariation disease BEFREE All cases were confirmed to be MSI+.The promoter region of hMLH1 was hypermethylated in seven of 10 MSI+ sporadic cancers versus 0 of 10 HNPCC cancers (p<0.002). 10922385 2000
Hereditary Nonpolyposis Colorectal Cancer
0.900 GeneticVariation disease BEFREE A total of 365 samples from probands referred for genetic testing for Lynch syndrome were analyzed for the presence of large genomic alterations in hMLH1 or hMSH2 by using a combination of techniques. 16143124 2005
Hereditary Nonpolyposis Colorectal Cancer
0.900 Biomarker disease BEFREE We analysed the <i>MLH1</i> promoter sequence in five different patient groups with colorectal cancer (CRC) (n=480) composed of patients with i) CEM (n=16), ii) unsolved loss of MLH1 expression in CRC (n=37), iii) CpG-island methylator-phenotype CRC (n=102), iv) patients with LS (n=83) and v) MLH1-proficient CRC (n=242) as controls. 29472279 2018
Hereditary Nonpolyposis Colorectal Cancer
0.900 Biomarker disease BEFREE A total 1011 colorectal cancer cases were screened for Lynch syndrome, and 148 (14.6%) exhibited absent MLH1 immunostaining. 28059100 2017
Hereditary Nonpolyposis Colorectal Cancer
0.900 GeneticVariation disease BEFREE Novel approaches in evaluation of pathogenicity of single-base exonic germline changes involving the mismatch repair genes MLH1 and MSH2 in diagnostics of Lynch syndrome. 18999873 2008
Hereditary Nonpolyposis Colorectal Cancer
0.900 GeneticVariation disease BEFREE The mismatch repair (MMR) genes MLH1, MSH2, MSH6, and PMS2 are associated with Lynch syndrome where colon and endometrial cancers are the predominant phenotypes. 19723918 2009
Hereditary Nonpolyposis Colorectal Cancer
0.900 GeneticVariation disease BEFREE The majority of mismatch repair (MMR) gene mutations causing Lynch syndrome (LS) occur either in MLH1 or MSH2. 23709753 2013