Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
0.100 GeneticVariation BEFREE The low activity C677T (valine) genotype of MTHFR may increase the risk of early onset breast cancer. 12473175 2002
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
0.100 GeneticVariation BEFREE Therefore, we conclude that the MTHFR 677C>T polymorphism is not associated with individual susceptibility to breast cancer. 14572159 2003
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
0.100 GeneticVariation BEFREE Effect of the methylenetetrahydrofolate reductase C677T polymorphism on chemosensitivity of colon and breast cancer cells to 5-fluorouracil and methotrexate. 14734703 2004
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
0.100 GeneticVariation BEFREE Results of this study suggest that the MTHFR C677T polymorphisms may modify the association between dietary folate intake and breast cancer risk. 14973091 2004
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
0.100 GeneticVariation BEFREE The MTHFR C677T and A1298C polymorphisms are likely to play an important role in the susceptibility to breast cancer. 15004488 2004
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
0.100 GeneticVariation BEFREE After adjusting for age of menarche, parity, alcohol intake and total fat intake we observed reductions in odds ratios for breast cancer risk comparing the highest with the lowest quartiles of serum folate concentrations of 0.23 (95% confidence interval (CI) 0.09, 0.54) for the entire group, 0.27 (CI 0.09, 0.80) for the wild-type and 0.08 (CI 0.01, 0.52) for the heterozygous C677T genotype. 15110890 2004
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
0.100 GeneticVariation BEFREE The common MTHFR C677T and TS enhancer region polymorphisms were not risk factors for breast cancer in this patient cohort nor were they associated with phenotypic features or with prognosis. 15510613 2004
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
0.100 GeneticVariation BEFREE We investigated independent and joint effects of B vitamin intake as well as two polymorphisms of a key one-carbon metabolizing gene [i.e., methylenetetrahydrofolate reductase (MTHFR) 677C>T and 1298A>C] on breast cancer risk. 15735051 2005
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
0.100 GeneticVariation BEFREE In contrast, there was no statistically significant association between the risk of breast cancer and the MTHFR C677T genotype. 15736423 2005
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
0.100 GeneticVariation BEFREE The association of p53 mutations and p53 codon 72, Her 2 codon 655 and MTHFR C677T polymorphisms with breast cancer in Northern Greece. 15837541 2005
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
0.100 GeneticVariation BEFREE Homozygosity for the low-activity C677T genotype (TT) may represent a genetic determinant increasing breast cancer risk. 16097444 2005
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
0.100 GeneticVariation BEFREE Our data fail to support a relationship between MTHFR C677T and the risk for breast cancer. 16134079 2007
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
0.100 GeneticVariation BEFREE The overall analysis for investigating the association between the C677T allele T and the risk of developing BC showed significant heterogeneity (p = 0.08, I2 = 34%) and non-significant association [odds ratio (OR) 1.02; 95% confidence interval (0.95-1.10)]. 16630166 2006
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
0.100 GeneticVariation BEFREE To evaluate the C677T and A1298C functional polymorphisms in the MTHFR gene and their associations with breast cancer risk, as well as the potential modifying effect by plasma folate status on the MTHFR-associated risk, a hospital-based case-control study was conducted on a Taiwanese population consisting of 146 histologically confirmed incident breast cancer cases and their 285 age-matched controls without a history of cancer. 16777985 2006
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
0.100 GeneticVariation BEFREE We found that the MTHFR SNPs, C677T and A1298C, were associated with breast cancer survival. 17069650 2006
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
0.100 GeneticVariation BEFREE Seventeen studies were included in the meta-analysis of MTHFR C677T genotype and breast cancer risk. 17105984 2006
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
0.100 GeneticVariation BEFREE Genetic polymorphisms of glutathione S-transferase (GST) genes including GSTT1 positive/null, GSTM1 positive/null, and GSTP1 A313G, and genes for reduced folate carrier 1 G80A (RFC1 G80A), methylenetetrahydrofolate reductase C677T (MTHFR C677T), and breast cancer resistant protein C421A (BCRP C421A) were determined for 26 patients by the polymerase chain reaction (PCR) method or by direct sequencing. 17180579 2007
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
0.100 GeneticVariation BEFREE A reduced activity of methylenetetrahydrofolate reductase (MTHFR) due to frequent C677T polymorphism affects DNA synthesis, repair and methylation and may be implicated in breast cancer risk. 17260091 2007
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
0.100 GeneticVariation BEFREE Encouraged by recent studies on the MTHFR 677C>T polymorphism and breast cancer risk that suggested an association of the 677 TT genotype with increased breast cancer susceptibility in premenopausal women, we performed an analysis of the relationship between breast cancer risk and the MTHFR 677C>T polymorphism in 210 premenopausal breast cancer patients and sex- and agematched healthy control subjects. 17453338 2008
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
0.100 GeneticVariation BEFREE Based on the hypothesis that variants of the cSHMT C1420T together with methionine synthase (MS A2756G) and 5,10-methylenetetrahydrofolate reductase (MTHFR C677T and A1298C) are associated with breast cancer, we performed a multigenic case-control study of the effects to breast cancer risk of four polymorphisms of folate-metabolizing genes against duration of estrogen exposure. 17896178 2008
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
0.100 GeneticVariation BEFREE In a nested case-control study of 380 women with incident breast cancer and 662 controls within the Singapore Chinese Health Study, we found no association between either green tea intake or gene polymorphisms of MTHFR (C677T and A1298C) and TYMS (1494 ins/del) and breast cancer risk. 18669903 2008
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
0.100 GeneticVariation BEFREE The presence of MTR A2756G mutant allele and MTHFR C677T mutant allele in carriers was associated with increased breast cancer risk [odds ration, 3.2 (P=0.16; 95% confidence interval, 0.76-13.9) and 3.9 (P=0.09; 95% confidence interval, 0.93-16.3), respectively]. 18842997 2008
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
0.100 GeneticVariation BEFREE Our data demonstrate for the first time a functional consequence of changes in intracellular folate cofactors resulting from the MTHFR 677T mutation in cells derived from the target organs of interest, thus providing a plausible cellular mechanism that may partly explain the site-specific modification of colon and breast cancer risks associated with the MTHFR C677T mutation. 19123462 2009
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
0.100 GeneticVariation BEFREE We examined if the association between tertiles of dietary folate equivalents (DFE) and breast cancer was different in subgroups according to genotypes of the MTHFR 677 C>T (rs1801133) and 1298A>C (rs1801131) SNPs and if the polymorphisms per se were associated with breast cancer. 19336565 2009
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
0.100 GeneticVariation BEFREE However, among postmenopausal women, there was an increase in breast cancer risk for women who were homozygote TT for MTHFR C677T and had high lifetime alcohol intake (>or=1,161.84 oz; OR, 1.92; 95% CI, 1.13-3.28) and for those who had a high number of drinks per drinking day (>1.91 drinks/day; OR, 1.80; 95% CI, 1.03-3.28) compared with nondrinkers who were homozygote CC. 19706843 2009