MGMT, O-6-methylguanine-DNA methyltransferase, 4255

N. diseases: 444; N. variants: 24
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs2308321
rs2308321
Entrez Id: 4255
Gene Symbol: MGMT
MGMT
CUI: C0007103
Disease:
Malignant neoplasm of endometrium
0.010 GeneticVariation BEFREE We did not observe an association between the Ile143Val polymorphism and e</span>ndometrial cancer risk overall. 16777993 2006
dbSNP: rs2308321
rs2308321
Entrez Id: 4255
Gene Symbol: MGMT
MGMT
CUI: C0476089
Disease:
Endometrial Carcinoma
0.010 GeneticVariation BEFREE We did not observe an association between the Ile143Val polymorphism and e</span>ndometrial cancer risk overall. 16777993 2006
dbSNP: rs2308321
rs2308321
Entrez Id: 4255
Gene Symbol: MGMT
MGMT
CUI: C0678222
Disease:
Breast Carcinoma
0.010 GeneticVariation BEFREE We assessed the two MGMT polymorphisms, Leu84Phe and Ile143Val, with breast cancer risk. 16788379 2006
dbSNP: rs2308321
rs2308321
Entrez Id: 4255
Gene Symbol: MGMT
MGMT
CUI: C4722085
Disease:
Malignant neoplasm of colon and/or rectum
0.010 GeneticVariation BEFREE Our results suggest that the common Leu84Phe and Ile143Val polymorphisms in MGMT influence risk of colorectal cancer in women possibly through modulating estrogen receptor-dependent transcriptional activation, which has previously been shown to occur in response to DNA alkylation damage. 16633920 2006
dbSNP: rs2308321
rs2308321
Entrez Id: 4255
Gene Symbol: MGMT
MGMT
CUI: C0009402
Disease:
Colorectal Carcinoma
0.010 GeneticVariation BEFREE Our results suggest that the common Leu84Phe and Ile143Val polymorphisms in MGMT influence risk of colorectal cancer in women possibly through modulating estrogen receptor-dependent transcriptional activation, which has previously been shown to occur in response to DNA alkylation damage. 16633920 2006
dbSNP: rs2308321
rs2308321
Entrez Id: 4255
Gene Symbol: MGMT
MGMT
CUI: C0006142
Disease:
Malignant neoplasm of breast
0.010 GeneticVariation BEFREE We assessed the two MGMT polymorphisms, Leu84Phe and Ile143Val, with breast cancer risk. 16788379 2006
dbSNP: rs2308327
rs2308327
Entrez Id: 4255
Gene Symbol: MGMT
MGMT
CUI: C0268138
Disease:
Xeroderma Pigmentosum, Complementation Group D
0.010 GeneticVariation BEFREE The variant alleles of XRCC1(Arg280His), XRCC1 (Arg399Gln), ERCC1(G8092T), ERCC5(His46His) and MGMT/AGT(Lys178Arg) were more frequent in patients with PAH-DNA adduct levels lower than the mean whereas the XRCC1(Arg194Trp) variant was more frequent in cases with higher adduct levels than the mean. 16195237 2006
dbSNP: rs773919809
rs773919809
Entrez Id: 4255
Gene Symbol: MGMT
MGMT
CUI: C4722085
Disease:
Malignant neoplasm of colon and/or rectum
0.010 GeneticVariation BEFREE Although the mechanism responsible for the link between the C677T polymorphism and microsatellite instability was not apparent, this finding may provide a clue towards a better understanding of the pathogenesis of microsatellite instability in human colorectal cancer. 16819711 2006
dbSNP: rs773919809
rs773919809
Entrez Id: 4255
Gene Symbol: MGMT
MGMT
CUI: C0009402
Disease:
Colorectal Carcinoma
0.010 GeneticVariation BEFREE Although the mechanism responsible for the link between the C677T polymorphism and microsatellite instability was not apparent, this finding may provide a clue towards a better understanding of the pathogenesis of microsatellite instability in human colorectal cancer. 16819711 2006
dbSNP: rs12917
rs12917
Entrez Id: 4255;105378560
Gene Symbol: MGMT;LOC105378560
MGMT;LOC105378560
CUI: C1306459
Disease:
Primary malignant neoplasm
0.070 GeneticVariation BEFREE For UADT cancer risk, associations were observed for the homozygous carriers of the variant alleles of MGMT L84F [odds ratio (OR) 2.35, 95% confidence interval (CI) 1.32-4.20], MGMT 171C > T (OR 2.24, 95% CI 1.20-4.17) and OGG1 S326C (OR 2.07, 95% CI 1.15-3.73) whilst three variants were associated with a protective effect (XPA 23G > A, P for trend 0.022, APEX Q51H, P for trend 0.036, CHEK2 intron 9-200T > C, P for trend 0.009). 17040931 2007
dbSNP: rs12917
rs12917
Entrez Id: 4255;105378560
Gene Symbol: MGMT;LOC105378560
MGMT;LOC105378560
CUI: C0006826
Disease:
Malignant Neoplasms
0.070 GeneticVariation BEFREE For UADT cancer risk, associations were observed for the homozygous carriers of the variant alleles of MGMT L84F [odds ratio (OR) 2.35, 95% confidence interval (CI) 1.32-4.20], MGMT 171C > T (OR 2.24, 95% CI 1.20-4.17) and OGG1 S326C (OR 2.07, 95% CI 1.15-3.73) whilst three variants were associated with a protective effect (XPA 23G > A, P for trend 0.022, APEX Q51H, P for trend 0.036, CHEK2 intron 9-200T > C, P for trend 0.009). 17040931 2007
dbSNP: rs773919809
rs773919809
Entrez Id: 4255
Gene Symbol: MGMT
MGMT
CUI: C1306459
Disease:
Primary malignant neoplasm
0.030 GeneticVariation BEFREE Two common variants in the MTHFR gene (C677T and A1298C) have been associated with reduced enzyme activity, thereby making MTHFR polymorphisms a potential candidate as a cancer-predisposing factor. 17712558 2007
dbSNP: rs773919809
rs773919809
Entrez Id: 4255
Gene Symbol: MGMT
MGMT
CUI: C0006826
Disease:
Malignant Neoplasms
0.030 GeneticVariation BEFREE Two common variants in the MTHFR gene (C677T and A1298C) have been associated with reduced enzyme activity, thereby making MTHFR polymorphisms a potential candidate as a cancer-predisposing factor. 17712558 2007
dbSNP: rs12917
rs12917
Entrez Id: 4255;105378560
Gene Symbol: MGMT;LOC105378560
MGMT;LOC105378560
CUI: C0027651
Disease:
Neoplasms
0.020 GeneticVariation BEFREE We observed a positive association between the PARP codon 940 Lys/Arg and Arg/Arg genotypes and colorectal cancer risk [odds ratio (OR), 1.8; 95% confidence interval (95% CI), 1.1-3.1], and an inverse association between the MGMT codon 84 Leu/Phe or Phe/Phe genotypes and colon cancer risk (OR, 0.6; 95% CI, 0.3-0.9), but not rectal cancer (test of heterogeneity by tumor site, P=0.027). 18006925 2007
dbSNP: rs773919809
rs773919809
Entrez Id: 4255
Gene Symbol: MGMT
MGMT
CUI: C0027651
Disease:
Neoplasms
0.020 GeneticVariation BEFREE Dietary folate intake in combination with MTHFR C677T genotype and promoter methylation of tumor suppressor and DNA repair genes in sporadic colorectal adenomas. 17301267 2007
dbSNP: rs12917
rs12917
Entrez Id: 4255;105378560
Gene Symbol: MGMT;LOC105378560
MGMT;LOC105378560
CUI: C0007102
Disease:
Malignant tumor of colon
0.010 GeneticVariation BEFREE We observed a positive association between the PARP codon 940 Lys/Arg and Arg/Arg genotypes and colorectal cancer risk [odds ratio (OR), 1.8; 95% confidence interval (95% CI), 1.1-3.1], and an inverse association between the MGMT codon 84 Leu/Phe or Phe/Phe genotypes and colon cancer risk (OR, 0.6; 95% CI, 0.3-0.9), but not rectal cancer (test of heterogeneity by tumor site, P=0.027). 18006925 2007
dbSNP: rs12917
rs12917
Entrez Id: 4255;105378560
Gene Symbol: MGMT;LOC105378560
MGMT;LOC105378560
CUI: C0699790
Disease:
Colon Carcinoma
0.010 GeneticVariation BEFREE We observed a positive association between the PARP codon 940 Lys/Arg and Arg/Arg genotypes and colorectal cancer risk [odds ratio (OR), 1.8; 95% confidence interval (95% CI), 1.1-3.1], and an inverse association between the MGMT codon 84 Leu/Phe or Phe/Phe genotypes and colon cancer risk (OR, 0.6; 95% CI, 0.3-0.9), but not rectal cancer (test of heterogeneity by tumor site, P=0.027). 18006925 2007
dbSNP: rs12917
rs12917
Entrez Id: 4255;105378560
Gene Symbol: MGMT;LOC105378560
MGMT;LOC105378560
CUI: C0302592
Disease:
Cervix carcinoma
0.010 GeneticVariation BEFREE Compared with using Leu84Leu (CC), Phe84Phe (TT) and Leu84Phe (CT) which did not increase the risk for cervical carcinoma. 17234722 2007
dbSNP: rs2308321
rs2308321
Entrez Id: 4255
Gene Symbol: MGMT
MGMT
CUI: C0024305
Disease:
Lymphoma, Non-Hodgkin
0.010 GeneticVariation BEFREE Two SNP in MGMT (Ile143Val and Lys178Arg) were in complete linkage disequilibrium and associated with increased risk of NHL (Ile143Val, Ile/Val vs. Ile/Ile, OR: 1.26; 95% CI: 0.93-1.70; Val/Val vs. Ile/Ile, OR: 2.55; 95% CI: 0.98-6.63; p trend: 0.024). 17666372 2007
dbSNP: rs2308321
rs2308321
Entrez Id: 4255
Gene Symbol: MGMT
MGMT
CUI: C0017638
Disease:
Glioma
0.010 GeneticVariation BEFREE Using the population based San Francisco Adult Glioma study, we evaluated associations between XRCC1 Arg399Gln, MGMT Leu84Phe, and MGMT Ile143Val polymorphisms with glioma risk among white cases (n = 441 to 453) and controls (n = 487 to 526). 17898525 2007
dbSNP: rs2308327
rs2308327
Entrez Id: 4255
Gene Symbol: MGMT
MGMT
CUI: C0024305
Disease:
Lymphoma, Non-Hodgkin
0.010 GeneticVariation BEFREE Two SNP in MGMT (Ile143Val and Lys178Arg) were in complete linkage disequilibrium and associated with increased risk of NHL (Ile143Val, Ile/Val vs. Ile/Ile, OR: 1.26; 95% CI: 0.93-1.70; Val/Val vs. Ile/Ile, OR: 2.55; 95% CI: 0.98-6.63; p trend: 0.024). 17666372 2007
dbSNP: rs773919809
rs773919809
Entrez Id: 4255
Gene Symbol: MGMT
MGMT
CUI: C1306459
Disease:
Primary malignant neoplasm
0.030 GeneticVariation BEFREE To explore the role of aberrant hypermethylation of cancer-related genes, such as P16, MGMT, and hMLH1, in the esophageal squamous cell carcinoma (ESCC) as well as its relation to dietary folate intake and MTHFR C677T polymorphism, we conducted a molecular epidemiologic study in China. 18199718 2008
dbSNP: rs773919809
rs773919809
Entrez Id: 4255
Gene Symbol: MGMT
MGMT
CUI: C0006826
Disease:
Malignant Neoplasms
0.030 GeneticVariation BEFREE To explore the role of aberrant hypermethylation of cancer-related genes, such as P16, MGMT, and hMLH1, in the esophageal squamous cell carcinoma (ESCC) as well as its relation to dietary folate intake and MTHFR C677T polymorphism, we conducted a molecular epidemiologic study in China. 18199718 2008
dbSNP: rs773919809
rs773919809
Entrez Id: 4255
Gene Symbol: MGMT
MGMT
CUI: C0279626
Disease:
Squamous cell carcinoma of esophagus
0.030 GeneticVariation BEFREE Aberrant DNA methylation of P16, MGMT, and hMLH1 genes in combination with MTHFR C677T genetic polymorphism in esophageal squamous cell carcinoma. 18199718 2008
dbSNP: rs12268840
rs12268840
Entrez Id: 4255
Gene Symbol: MGMT
MGMT
CUI: C0018834
Disease:
Heartburn
0.010 GeneticVariation BEFREE Homozygous carriers of MGMT rs12268840 with frequent acid reflux had significantly higher risks of EAC (OR 15.5, 95% CI 5.8-42) than expected under an additive model, consistent with biological interaction (S = 3.3, 95% CI 1.1-10). 18386788 2008