The transforming growth factor (TGF)-β signaling pathway plays a critical role in breast cancer development and progression. Limited data from human studies, however, are currently available to link biomarkers in this pathway directly to the risk and survival of breast cancer. Most of the previous epidemiologic studies have focused on evaluating polymorphisms in the TGFB1 gene (T+29C , rs1982073) and the TGFBR1 gene (9A/6A), and the results have been inconsistent. The present review summarizes epidemiologic evidence regarding the association of genetic polymorphisms in the TGF β pathway genes with breast cancer risk and survival and provides rationale and new approaches to continuing the research in this area.