Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Adult Diffuse Large B-Cell Lymphoma
CUI: C1332201
Disease: Adult Diffuse Large B-Cell Lymphoma
0.010 GeneticVariation BEFREE After stratification by major NHL histological subtypes, MGMT (rs12917) modified the association between chlorinated solvents and the risk of diffuse large B-cell lymphoma (Pfor interaction=0.0027) and follicular lymphoma (Pfor interaction=0.0024). 22430443 2012
Adult Hodgkin Lymphoma
CUI: C0220597
Disease: Adult Hodgkin Lymphoma
0.010 GeneticVariation BEFREE Recently, we detected the single nucleotide polymorphism (SNP) rs12917 (C/T) in the MGMT sequence adjacent to the active site in Hodgkin lymphoma (HL) cell line KM-H2. 30945122 2019
Biliary Tract Cancer
CUI: C0750952
Disease: Biliary Tract Cancer
0.010 GeneticVariation BEFREE Of the five single nucleotide polymorphisms examined, only one (MGMT EX5-25C>T, rs12917) was associated with biliary tract cancer. 18708406 2008
Bladder Neoplasm
CUI: C0005695
Disease: Bladder Neoplasm
0.010 GeneticVariation BEFREE We hypothesized that two MGMT polymorphisms in exon 3, C16195T (or MGMT L53L) and C16286T (or MGMT L84F) are associated with risk of bladder cancer. 15885889 2005
Breast Carcinoma
CUI: C0678222
Disease: Breast Carcinoma
0.010 GeneticVariation BEFREE These data suggest that the Leu84Phe polymorphism affect the capacity of MGMT to inhibit estrogen receptor-mediated cell proliferation and is associated with breast cancer risk. 16788379 2006
Carcinoma of bladder
CUI: C0699885
Disease: Carcinoma of bladder
0.010 GeneticVariation BEFREE We hypothesized that two MGMT polymorphisms in exon 3, C16195T (or MGMT L53L) and C16286T (or MGMT L84F) are associated with risk of bladder cancer. 15885889 2005
Carcinoma of lung
CUI: C0684249
Disease: Carcinoma of lung
0.030 GeneticVariation BEFREE Our results showed that MGMT rs12917 and higher levels of methylation in the MGMT promoter are associated with the risk of LC. 30785779 2019
Carcinoma of lung
CUI: C0684249
Disease: Carcinoma of lung
0.030 GeneticVariation BEFREE This meta-analysis suggests that the MGMT Leu84Phe polymorphisms are associated with lung cancer risk among Caucasians not in Asians. 24390665 2014
Carcinoma of lung
CUI: C0684249
Disease: Carcinoma of lung
0.030 GeneticVariation BEFREE In further stratified analyses for the Leu84Phe and Ile143Val polymorphisms, the increased risk of cancer remained in subgroups of Caucasians, patients with esophageal cancer for the Leu84Phe polymorphism, and patients with lung cancer for the Ile143Val polymorphism. 23760981 2013
Cervix carcinoma
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
Childhood Hodgkin Lymphoma
CUI: C0220644
Disease: Childhood Hodgkin Lymphoma
0.010 GeneticVariation BEFREE Impact of rs12917 MGMT Polymorphism on [<sup>18</sup>F]FDG-PET Response in Pediatric Hodgkin Lymphoma (PHL). 30945122 2019
Colon Carcinoma
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
Colorectal Carcinoma
CUI: C0009402
Disease: Colorectal Carcinoma
0.030 GeneticVariation BEFREE In conclusion, this meta-analysis suggests that the PARP-1 rs1136410: T > C polymorphism is a susceptibility factor for GI cancers, but the variant allele of MGMT rs12917: C > T polymorphism appears to be a protective factor for colorectal cancer. 24203816 2014
Colorectal Carcinoma
CUI: C0009402
Disease: Colorectal Carcinoma
0.030 GeneticVariation BEFREE In the tumour sites subgroup analysis, only the protective effects of Leu84Phe polymorphism were found in colorectal cancer, under CT versus CC comparison. 19892775 2010
Colorectal Carcinoma
CUI: C0009402
Disease: Colorectal Carcinoma
0.030 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
Diffuse Large B-Cell Lymphoma
CUI: C0079744
Disease: Diffuse Large B-Cell Lymphoma
0.010 GeneticVariation BEFREE After stratification by major NHL histological subtypes, MGMT (rs12917) modified the association between chlorinated solvents and the risk of diffuse large B-cell lymphoma (Pfor interaction=0.0027) and follicular lymphoma (Pfor interaction=0.0024). 22430443 2012
Endometrial Carcinoma
CUI: C0476089
Disease: Endometrial Carcinoma
0.010 GeneticVariation BEFREE We assessed the two functional polymorphisms, the Leu84Phe and Ile143Val, in relation to endometrial cancer risk in a nested case-control study within the Nurses' Health Study (cases = 456, controls = 1134). 16777993 2006
Esophageal carcinoma
CUI: C0152018
Disease: Esophageal carcinoma
0.010 GeneticVariation BEFREE Lack of influence of MGMT codon Leu84Phe and codon Ileu143Val polymorphisms on esophageal cancer risk in the Kashmir Valley. 22994708 2012
Esophageal Neoplasms
CUI: C0014859
Disease: Esophageal Neoplasms
0.010 GeneticVariation BEFREE Lack of influence of MGMT codon Leu84Phe and codon Ileu143Val polymorphisms on esophageal cancer risk in the Kashmir Valley. 22994708 2012
Familial multiple trichoepitheliomata
0.010 GeneticVariation BEFREE We compared patients with EAC (n = 263) or EGJAC (n = 303) with matched population controls (n = 1,337) for the frequency of 5 MGMT single nucleotide polymorphisms (SNPs) (rs12269324, rs12268840, L84F, I143V, K178R), as well as SNPs in DNA repair genes ERCC1 (N118N), XRCC1 (Q399R) and XPD (K751Q). 18386788 2008
Glioma
CUI: C0017638
Disease: Glioma
0.040 GeneticVariation BEFREE This meta-analysis suggests that glioma susceptibility is associated with rs1799782 and rs25487 of X-ray repair complementing defective repair in Chinese hamster cells 1 (XRCC1), rs1805377 of XRCC4, rs1800067 of excision repair cross-complementing rodent repair deficiency complementation group 4 (ERCC4) and rs3212986 of ERCC1 in Asian population, and rs12917 of O-6-methylguanine-DNA methyltransferase (MGMT) and rs1136410 of poly(ADP-ribose) polymerase 1 (PARP1) in Caucasian population. 27055523 2017
Glioma
CUI: C0017638
Disease: Glioma
0.040 GeneticVariation BEFREE We found that SNPs rs3212986 (odds ratio [OR] = 1.35 (1.08-1.68), P = .008), rs13181 (OR = 1.18 (1.06-1.31), P = .002), and rs25487 (OR = 1.12 (1.03-1.22), P = .007) in DNA repair genes ERCC1, ERCC2 (XPD), and XRCC1 may increase the risk of glioma, while polymorphisms rs1136410 (OR = 0.78 (0.68-0.89), P = .0004) and rs12917 (OR = 0.84 (0.73-0.96), P = .01) in PARP1(ADPRT) and MGMT are associated with decreased susceptibility to glioma. 24500421 2014
Glioma
CUI: C0017638
Disease: Glioma
0.040 GeneticVariation BEFREE Furthermore, the multifactor dimensionality reduction and classification and regression tree analyses identified MGMT F84L as the predominant risk factor for glioma and revealed strong interactions among ionizing radiation exposure, PARP1 A762V, MGMT F84L, and APEX1 E148D. 19124499 2009
Glioma
CUI: C0017638
Disease: Glioma
0.040 GeneticVariation BEFREE In summary, the T/T <i>genotype of MGMT</i> rs12917 is likely to be linked to an enhanced susceptibility to cancer overall, especially glioma, in the Caucasian population. 30232235 2018
Head and Neck Carcinoma
CUI: C3887461
Disease: Head and Neck Carcinoma
0.020 GeneticVariation BEFREE The role of MGMT polymorphisms rs12917 and rs11016879 in head and neck cancer risk and prognosis. 29370316 2018