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 Amongst the important known susceptibility genes are those dominant genes conferring a high risk of breast and ovarian cancer (BRCA1), colon cancer (hMSH2 and hMLH1), and melanoma (MLM). 7987639 1994
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma
0.100 GeneticVariation disease BEFREE Age and origin of two common MLH1 mutations predisposing to hereditary colon cancer. 8940269 1996
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 The human colon cancer cell line HCT116 is deficient in DNA mismatch repair (MMR) because of a genetic defect in the hMLH1 gene, which is located on chromosome 3. 9337351 1997
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma
0.100 PosttranslationalModification disease BEFREE Hypermethylation of the hMLH1 promoter in colon cancer with microsatellite instability. 9699680 1998
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 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 Germ-line hMLH1 mutations are causally associated with inherited MSI colon cancer, and somatic mutations are causally associated with sporadic MSI colon cancer. 9671741 1998
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma
0.100 Biomarker disease BEFREE In this study, we examine the response of MMR-proficient (hMLH1+) and MMR-deficient (hMLH1-) colon carcinoma cell lines to the halogenated thymidine (dThd) analogues iododeoxyuridine (IdUrd) and bromodeoxyuridine (BrdUrd) before and after irradiation. 10213489 1999
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma
0.100 GeneticVariation disease BEFREE We have studied the possible interactions between the mismatch repair system and p53 in a human colon cancer cell line, HCT-116 (known to have a homozygous mutation in mismatch repair gene hMLH1 on chromosome 3) and in a clone obtained after insertion of a single copy of chromosome 3 (HCT-116+ ch3). 10213232 1999
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma
0.100 GeneticVariation disease BEFREE Importantly, families with the MLH1 exon 16 mutation displayed significant variation (P = 0.012) in the age at onset of colon cancer, despite shared predisposition. 14574010 2001
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 GeneticVariation disease BEFREE While a colon cancer from the same individual showed MSI, the BC specimen was MSI-negative, indicating that development of the latter tumor was unrelated to MMR impairment, despite presence of a constitutional MLH1 mutation.Hum Mutat 17:521, 2001. 11385712 2001
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma
0.100 PosttranslationalModification disease BEFREE Extensive methylation of hMLH1 promoter region predominates in proximal colon cancer with microsatellite instability. 11729109 2001
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 GeneticVariation disease BEFREE We conclude that germ-line involvement of MSH6 and MSH3 is rare and that other genes are likely to account for a majority of MSH2-, MLH1-mutation negative families with nonpolypotic colon cancer. 11245474 2001
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 PosttranslationalModification disease BEFREE Chromosomal autonomy of hMLH1 methylation in colon cancer. 11857087 2002
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma
0.100 GeneticVariation disease BEFREE Three human colon cancer cell lines were used, SW480 cells, which are wild-type for mismatch repair genes and have mutated p53, HCT116 cells, which are mutant in hMLH1 and wild-type for p53, and HCT15 cells, which are mutant in hMSH6 and mutant in p53 as well. 12231545 2002
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma
0.100 GeneticVariation disease BEFREE We have studied MSI, somatic mutations in repeat-containing genes, DNA-ploidy, and cytogenetic aberrations in a colon carcinoma from a patient with a germline MLH1 mutation. 11996796 2002
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma
0.100 GeneticVariation disease BEFREE To evaluate this possibility, we treated three colon cancer cell lines that are either proficient in mismatch repair (MMR) [SW480 (MMR wild type)] or deficient in MMR [HCT116 (hMLH1 mutant) and HCT15 (hMSH6 mutant)] with three cycles of BG+BCNU. 12036916 2002
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma
0.100 PosttranslationalModification disease BEFREE Aberrant methylation of the promoter CpG island of hMLH1 is associated with gene silencing in colon cancer and gastric cancer with microsatellite instabilities (MSI). 11935297 2002
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma
0.100 PosttranslationalModification disease BEFREE In this study, we evaluated the frequency of microsatellite instability (MSI) using the five markers suggested by the National Cancer Institute workshop, target gene mutations, hMLH1 and hMSH2 expression, and hMLH1 promoter hypermethylation in the adenomas of patients with and without a SFDR affected by colon cancer. 12591727 2003
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma
0.100 Biomarker disease BEFREE A family history of breast/ovarian, HNPCC or colon cancer in a first degree relative was found in 40% of fallopian, 20% of biliary, 35% of pancreatic, 27% of urothelial and 20% of small bowel cancer patients. 14574163 2003
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