Methylenetetrahydrofolate reductase polymorphism and susceptibility to breast cancer

Campbell, Ian G., Baxter, Simon W., Eccles, Diana M. and Choong, David Y. H. (2002) Methylenetetrahydrofolate reductase polymorphism and susceptibility to breast cancer. Breast Cancer Research, 4 (6). (doi:10.1186/bcr457).

Abstract

Background: A growing body of evidence suggests that variations in the levels of folate may contribute to the development of cancer. A functional polymorphic variant (C?T substitution at nucleotide 677) in the 5,10-methylenetetrahydrofolate reductase (MTHFR) gene results in the conversion of an alanine to a valine and may modify the risk of breast and other cancers.
Method: We have investigated the possible influence of this MTHFR variant on breast cancer risk in a case-control study of 233 healthy women and 335 women who had breast cancer that occurred under the age of 40 years, bilateral breast cancer or a family history of breast cancer.
Results: A significant excess of the valine genotypes was observed among the cases (odds ratio 1.43, 95% confidence interval 1.02–2.00). The effect was more pronounced among the cases with a breast cancer diagnosis under the age of 40 years, with an odds ratio of 1.66 (95% confidence interval 1.12–2.41). A nonsignificant excess of the valine genotypes was observed among the cases with a family history of breast cancer or bilateral breast cancer.
Conclusions: The low activity C677T (valine) genotype of MTHFR may increase the risk of early onset breast cancer.

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Contributors

Author: Diana M. Eccles

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