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Background  Transforming growth factor beta 1 (TGFB1) forms a signaling complex with transforming growth factor beta receptors 1 and 2 and has been described as both a tumor suppressor and tumor promoter. Single nucleotide polymorphisms in  TGFB1  and a microsatellite in  TGFBR1  have been investigated for association with risk of breast cancer, with conflicting results.    Methods  We examined polymorphisms in the promoter region of the  TGFB1  gene as well as the TGFBR1*6A microsatellite in the Nurses' Health Study cohort.    Results  No overall associations between the L10P polymorphism of  TGFB1  or the  TGFBR1  microsatellite were detected. However, we observed an inverse association between the -509 C/T polymorphism of  TGFB1  (p-trend = 0.04), which was stronger and more significant among women with estrogen receptor positive breast cancer.    Conclusion  Polymorphisms in the promoter region of  TGFB1  are not likely to be associated with large increases in breast cancer risk overall among Caucasian women.

TGFB1 and TGFBR1 polymorphisms and breast cancer risk in the Nurses' Health Study