Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
0.100 GeneticVariation disease BEFREE When stratified by tumor location, hMLH1 -93G>A and IVS3-1403A>T were associated with colon cancer survival (for hMLH1 -93G>A, AA+AG vs. GG, HRadj = 0.34, 95 % CI 0.17-0.68, p < 0.01; for hMLH1 IVS3-1403A>T, AT vs. AA, HR(adj) = 2.20, 95 % CI 1.11-4.36, p = 0.02), rather than rectal cancer. 24793746 2014
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
0.100 Biomarker disease BEFREE This retrospective cohort study comprised 79 carriers of germline mutation in a MMR gene (18 MLH1, 55 MSH2, 4 MSH6, and 2 PMS2) from the Colon Cancer Family Registry who had had a proctectomy for index rectal cancer. 23358792 2013
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
0.100 GeneticVariation disease BEFREE Somatic mutation frequency of hMLH1/hMSH2 gene was significantly different in proximal, distal colon and rectal cancer (p = 0.03). 23573243 2013
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
0.100 Biomarker disease BEFREE Moreover, MSH2 protein expression was absent in the tumors of the ovary, endometrium, ascending colon, and rectum, while the rectal cancer also lacked MLH1 protein. 22776788 2012
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
0.100 GeneticVariation disease BEFREE The carriers of the variant allele for the polymorphism IVS9-1406C>T in hMLH1 exhibited a decreased risk of rectal cancer (OR 0.71; 95% CI 0.51-0.98). 18851982 2008
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
0.100 AlteredExpression disease BEFREE Dietary fat and risk of colon and rectal cancer with aberrant MLH1 expression, APC or KRAS genes. 17636402 2007
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
0.100 GeneticVariation disease BEFREE We identified a MLH1 Q701X truncating mutation in the blood lymphocytes of a male who had been diagnosed with rectal cancer at the age of 35. 16521201 2006
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
0.100 GeneticVariation disease BEFREE Meat and fish consumption, APC gene mutations and hMLH1 expression in colon and rectal cancer: a prospective cohort study (The Netherlands). 16184469 2005
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
0.100 GeneticVariation disease BEFREE Loss of MMR protein expression was confirmed to be a rare event in rectal cancer with loss of MLH1 staining in 3% and MSH2 in 1% of the tumors. 15300804 2004
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
0.100 GeneticVariation disease BEFREE Most of the families with rectal cancer were associated with hMLH1 (six of seven in hMLH1 vs two of four in hMSH2). 10713887 2000
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
0.100 GeneticVariation disease BEFREE Five families had mutations in hMLH1, 4 of which were splice site mutations, 2 had frameshift mutations in hMSH2 and 1 patient with metachronous endometrial and rectal cancer but with a weak family history of cancer had a nonsense mutation in hMSH6. 10471527 1999
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
0.100 GeneticVariation disease BEFREE Rectal cancer in a 13-year-old boy without a detectable germline mutation in FAP and HNPCC genes. 10433009 1999
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
0.100 Biomarker disease BEFREE Site distribution showed disparity of rectal cancers (8 percent MLH1 vs. 28 percent MSH2; P = 0.01) based on genotypes. 9559626 1998