rs1217691063, MTHFR

N. diseases: 614
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Malignant Neoplasms
CUI: C0006826
Disease: Malignant Neoplasms
0.100 GeneticVariation BEFREE Cancer risk may be increased in individuals with the homozygous genotype for the MTHFR 677C-->T polymorphism who have low status of methyl-related nutrients including folate. 14608109 2003
Malignant Neoplasms
CUI: C0006826
Disease: Malignant Neoplasms
0.100 GeneticVariation BEFREE A C/T transition at position 677 in the gene encoding methlylenetetrahydrofolate reductase (MTHFR C677T) has been reported to interact with folate intake to modulate colorectal adenoma recurrence or cancer risk. 18322814 2008
Malignant Neoplasms
CUI: C0006826
Disease: Malignant Neoplasms
0.100 GeneticVariation BEFREE A literature review of MTHFR (C677T and A1298C polymorphisms) and cancer risk. 23076526 2013
Malignant Neoplasms
CUI: C0006826
Disease: Malignant Neoplasms
0.100 GeneticVariation BEFREE Accumulating evidence has indicated that two common genetic variants, C677T and A1298C, are associated with cancer risk. 20002681 2010
Malignant Neoplasms
CUI: C0006826
Disease: Malignant Neoplasms
0.100 GeneticVariation BEFREE Additionally, more high-quality studies and that the covariates responsible for heterogeneity should be controlled to obtain a more conclusive response about the function of MTHFR C677T in cancer. 24744129 2014
Malignant Neoplasms
CUI: C0006826
Disease: Malignant Neoplasms
0.100 GeneticVariation BEFREE Association between the MTHFR C677T polymorphism and risk of cancer: evidence from 446 case-control studies. 26081619 2015
Malignant Neoplasms
CUI: C0006826
Disease: Malignant Neoplasms
0.100 GeneticVariation BEFREE Common methylenetetrahydrofolate reductase gene variants (MTHFR C677T and A1298C) have been described to have opposite effects on cancer patients. 17488658 2007
Malignant Neoplasms
CUI: C0006826
Disease: Malignant Neoplasms
0.100 GeneticVariation BEFREE Compared with the CC genotype of MTHFR C677T, the TT/TC of the genotype significantly increased the risk of the esophageal squamous cells dysplasia [OR, 2.25; 95% confidence interval (CI), 1.18-4.31]; the OR of esophageal squamous cancer was 1.58 (95% CI, 0.85-2.97) after adjustments for age, sex, and years of education. 18662591 2008
Malignant Neoplasms
CUI: C0006826
Disease: Malignant Neoplasms
0.100 GeneticVariation BEFREE For children with malignancy, genotyping of the MTHFR C677T polymorphism is expected to be a useful tool in reducing toxicity and improving outcome in personalized MTX therapy. 28696419 2018
Malignant Neoplasms
CUI: C0006826
Disease: Malignant Neoplasms
0.100 GeneticVariation BEFREE However, in meta-analyses odds ratio for MTHFR c.677C>T</span> homozygotes versus noncarriers were 1.07 (95% CI: 1.01-1.12) for any cancer, 1.77 (1.17-2.68) for esophagus cancer, 1.40 (1.19-1.66) for gastric cancer and 0.85 (0.77-0.94) for colorectal cancer. 20473868 2011
Malignant Neoplasms
CUI: C0006826
Disease: Malignant Neoplasms
0.100 GeneticVariation BEFREE However, we did not find association between polymorphism in MTHFR C677T and risk of hypermethylation in P16, MGMT, hMLH1 and hMLH2 genes either in cancer or remote normal-appearing tissues. 23803092 2013
Malignant Neoplasms
CUI: C0006826
Disease: Malignant Neoplasms
0.100 GeneticVariation BEFREE Methylene tetrahydrofolate reductase C677T leads to a decrease of about 30% in its product activity and is reported to have an effect on cancer susceptibility. 23934457 2013
Malignant Neoplasms
CUI: C0006826
Disease: Malignant Neoplasms
0.100 GeneticVariation BEFREE Methylenetetrahydrofolate reductase (MTHFR) C677T polymorphism is a genetic factor that has been associated with many pathologies, including cancer. 31170928 2019
Malignant Neoplasms
CUI: C0006826
Disease: Malignant Neoplasms
0.100 GeneticVariation BEFREE Methylenetetrahydrofolate reductase (MTHFR) and methionine synthase reductase (MTRR) play an essential role in both DNA synthesis and methylation and polymorphisms in the MTHFR gene, 677C>T, 1298A>C and the MTRR gene, 66A>G, are associated with several types of malignancy. 19035314 2008
Malignant Neoplasms
CUI: C0006826
Disease: Malignant Neoplasms
0.100 GeneticVariation BEFREE MTHFR variants may cause genomic hypomethylation, which may lead to the development of cancer, and MTHFR gene polymorphisms (especially C677T and A1298C) are known to influence predispositions for cancer development. 26745044 2015
Malignant Neoplasms
CUI: C0006826
Disease: Malignant Neoplasms
0.100 GeneticVariation BEFREE Multiplex PCR for simultaneous detection of 677 C-->T and 1298 A-->C polymorphisms in methylenetetrahydrofolate reductase gene for population studies of cancer risk. 12175537 2002
Malignant Neoplasms
CUI: C0006826
Disease: Malignant Neoplasms
0.100 GeneticVariation BEFREE Our objective was to evaluate the MTHFR C677T-A1298C polymorphisms in patients with breast cancer and in individuals with no history of cancer, to compare the levels of genetic damage and apoptosis under folic acid (FA) deficiency between patients and controls, and to assess associations with breast cancer. 22901194 2012
Malignant Neoplasms
CUI: C0006826
Disease: Malignant Neoplasms
0.100 GeneticVariation BEFREE Some examples include the alanine-to-valine substitution at codon 222 (Ala222-->Val) [DNA: C-to-T substitution at nucleo-tide 677 (677C-->T)] in methylenetetrahydrofolate reductase (NADPH) and the cofactor FAD (in relation to cardiovascular disease, migraines, and rages), the Pro187-->Ser (DNA: 609C-->T) mutation in NAD(P):quinone oxidoreductase 1 [NAD(P)H dehy-drogenase (quinone)] and FAD (in relation to cancer), the Ala44-->Gly (DNA: 131C-->G) mutation in glucose-6-phosphate 1-dehydrogenase and NADP (in relation to favism and hemolytic anemia), and the Glu487-->Lys mutation (present in one-half of Asians) in aldehyde dehydrogenase (NAD + ) and NAD (in relation to alcohol intolerance, Alzheimer disease, and cancer). 11916749 2002
Malignant Neoplasms
CUI: C0006826
Disease: Malignant Neoplasms
0.100 GeneticVariation BEFREE The C677T polymorphism of the methylene-tetrahydrofolate reductase (MTHFR) gene is associated with a reduction of catalytic activity and is suggested to modify cancer risk differently depending on folate status. 16950805 2006
Malignant Neoplasms
CUI: C0006826
Disease: Malignant Neoplasms
0.100 GeneticVariation BEFREE The analysis of polymorphisms in the MTHFR gene has revealed associations with cancer; in particular the C677T polymorphism, which has been suggested to affect folate metabolism, DNA methylation, synthesis, and repair, and to contribute to tumor promotion in the mammary gland. 25966173 2015
Malignant Neoplasms
CUI: C0006826
Disease: Malignant Neoplasms
0.100 GeneticVariation BEFREE The methylenetetrahydrofolate reductase (MTHFR) C677T polymorphism and cancer risk: the Croatian case-control study. 17573062 2007
Malignant Neoplasms
CUI: C0006826
Disease: Malignant Neoplasms
0.100 GeneticVariation BEFREE The methylenetetrahydrofolate reductase (MTHFR) 677 C>T and 1298 A>C polymorphisms are associated with variations in folate levels, a phenomenon linked to the development of various malignancies. 25510667 2015
Malignant Neoplasms
CUI: C0006826
Disease: Malignant Neoplasms
0.100 GeneticVariation BEFREE The role of the MTHFR 677C>T polymorphism in methotrexate-induced liver toxicity: a meta-analysis in patients with cancer. 23648444 2014
Malignant Neoplasms
CUI: C0006826
Disease: Malignant Neoplasms
0.100 GeneticVariation BEFREE The T allele of MTHFR C677T was significantly more frequently found in controls than in patients with cancer. 25075036 2014
Malignant Neoplasms
CUI: C0006826
Disease: Malignant Neoplasms
0.100 GeneticVariation BEFREE The two common functional polymorphisms of MTHFR, C677T and A1298C have been associated with several diseases, including cancer. 22194208 2011