Methylenetetrahydrofolate Reductase and Thymidylate Synthase Polymorphisms are not Associated with Breast Cancer Risk or Phenotype

Abstract

Background: Aberrations in folate metabolism contribute to the risk of cancer via effects on the synthesis, methylation and repair of DNA. Functional genetic variants in the methylene tetrahydrofolate reductase (MTHFR) and thymidylate synthase (TS) genes may be risk factors for breast cancer because of their central roles in cellular folate metabolism. Patients and Methods: The MTHFR C677T and TS tandem repeat polymorphisms were investigated in a case-control study of 339 women with breast cancer for possible associations with the risk of this disease, tumor phenotype and patient survival. Results: The MTHFR and TS polymorphisms were not associated with a significantly increased risk of breast cancer. No associations were observed with any pathological or molecular feature and neither polymorphism was associated with survival from this disease. Conclusion: 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.