Methylenetetrahydrofolate reductase polymorphism and susceptibility to breast cancer

被引:86
作者
Campbell, IG
Baxter, SW
Eccles, DM
Choong, DYH
机构
[1] Peter MacCallum Canc Inst, VBCRC Canc Genet Lab, Melbourne, Vic 3002, Australia
[2] Princess Anne Hosp, Southampton SO16 5YA, Hants, England
关键词
breast cancer; MTHFR; polymorphism;
D O I
10.1186/bcr457
中图分类号
R73 [肿瘤学];
学科分类号
100214 ;
摘要
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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页数:4
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