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: C0699790
Disease: Colon Carcinoma
Colon Carcinoma
0.100 GeneticVariation disease BEFREE The MLH1 -93 G>A promoter polymorphism and genetic and epigenetic alterations in colon cancer. 18615680 2008
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma
0.100 GeneticVariation disease BEFREE Statistically significant interactions were observed between: MLH1 -93G>A and smoking (MSI-negative colon cancer only, p value interaction: 0.005); and MLH1 Ile219Val and Western diet (p value interaction: 0.03). 18523027 2009
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma
0.100 GeneticVariation disease BEFREE Risk of metachronous CRC was estimated for 382 MMR gene mutation carriers (172 MLH1, 167 MSH2, 23 MSH6 and 20 PMS2) from the Colon Cancer Family Registry, who had surgery for their first colon cancer, using retrospective cohort analysis. 21193451 2011
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma
0.100 Biomarker disease 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
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma
0.100 AlteredExpression disease BEFREE Regulation of hMSH2 and hMLH1 expression in the human colon cancer cell line SW1116 by DNA methyltransferase 1. 16473673 2006
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma
0.100 PosttranslationalModification disease BEFREE Recently, the aberrant hypermethylation of the hMLH1 promoter and its consequent transcriptional silencing has been shown to be a common event in the formation of sporadic microsatellite unstable colon cancer. 11221878 2001
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma
0.100 Biomarker disease BEFREE Prognostic significance of microsatellite instability determined by immunohistochemical staining of MSH2 and MLH1 in sporadic T3N0M0 colon cancer. 14960518 2004
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma
0.100 Biomarker disease BEFREE Prognostic implications of hMLH1 and p53 immunohistochemical status in right-sided colon cancer. 15657659 2004
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma
0.100 GeneticVariation disease BEFREE Our results show that germline mutations of hMSH2 and hMLH1 genes contribute to a significant fraction of familial predisposition to colon cancer cases that do not fulfil all diagnostic criteria of HNPCC. 9399661 1997
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma
0.100 GeneticVariation disease BEFREE Our findings identified a novel Alu-mediated rearrangement within MSH2 gene and showed that large deletions or duplications in MLH1 and MSH2 genes are low-frequency mutational events in Southern Italian patients with an inherited predisposition to colon cancer. 23484096 2013
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma
0.100 GeneticVariation disease 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
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma
0.100 AlteredExpression disease BEFREE One patient who developed colon cancer had loss of expression of MLH1 on tumoral tissue and microsatellite instability (MSI) phenotype. 20640893 2010
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma
0.100 Biomarker disease BEFREE One hundred and thirty paraffin-embedded tissues of colorectal tumors were classified into 5 groups: 26 adenomas, 23 adenomas complicated with dysplasia, 22 adenomas complicated with carcinomatous, 36 colon carcinoma and 23 HNPCC, were examined by PCR, IHC and ISH, respectively. 14606077 2003
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma
0.100 AlteredExpression disease 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
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma
0.100 GeneticVariation disease BEFREE Mutations in the DNA mismatch repair gene MLH1 associated with early-onset colon cancer. 16769400 2006
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma
0.100 Biomarker disease BEFREE MSH3-deficient/MLH1-proficient colon cancer HCT116(MLH1) cells were transfected with the MSH3 cDNA cloned into the pcDNA3.1(-) vector. 23636450 2013
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma
0.100 Biomarker disease BEFREE MSH2 and MLH1 immunodetection and the prognosis of colon cancer. 11604984 2001
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma
0.100 PosttranslationalModification disease BEFREE MLH1-/PMS2-deficient colorectal carcinomas might be HNPCC-associated but also caused by MLH1-promoter methylation in sporadic colon carcinoma. 30613919 2019
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma
0.100 GeneticVariation disease BEFREE Microsatellite instability is prone to occur in sporadic right colon carcinoma during tumor growth and is not associated significantly with mutations in the hMLH1 and hMSH2 mismatch repair genes or in the p53 gene. 9731891 1998
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma
0.100 GeneticVariation disease BEFREE Methylation of the MLH1 promoter was identified in the peripheral blood leukocytes (PBLs) of a family member with an early onset colon cancer. 18022218 2008
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma
0.100 GeneticVariation disease BEFREE Members of hereditary nonpolyposis colon cancer (HNPCC) families harboring heterozygous germline mutations in the DNA mismatch repair genes hMSH2 or hMLH1 present with tumors generally two to three decades earlier than individuals with nonfamilial sporadic colon cancer. 11416201 2001
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma
0.100 Biomarker disease BEFREE Loss of MLH1 sensitizes colon cancer cells to DNA-PKcs inhibitor KU60648. 28224663 2017
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma
0.100 Biomarker disease BEFREE It is important to evaluate the effects of proposed interventions to reduce the risk of disease among carriers of a highly penetrant mutation, such as the mutations in BRCA1 and BRCA2 for breast and ovarian cancers or in APC and MLH1 or MSH2 for colon cancer. 15316055 2004
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma
0.100 Biomarker disease BEFREE Introduction of a nocodazole-induced G2-M block, which corrected the MLH1-mediated G2-M arrest deficiency in HCT116 cells, clearly demonstrated that HCT116 and HCT116 3-6 cells did not differ in G1 arrest or G1-S cell cycle transition after IR. 9485033 1998
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma
0.100 AlteredExpression disease BEFREE Interestingly, immunohistochemical staining showed that the expression of MLH1 was lost in the colon cancer as well as the ovarian teratoma. 27938333 2016