Association of functional −509C>T polymorphism in the TGF-β1 gene with infiltrating ductal breast carcinoma risk in a Russian Western Siberian population

Background: Transforming growth factor β1 (TGF-β1) is a multifunctional cytokine that plays an important role in human mammary carcinogenesis. The purpose of this study was to investigate the association between −509C>T single nucleotide polymorphism (SNP) of the TGF-β1 gene and infiltrating ductal breast carcinoma risk in Russian patients of Western Siberian region. Materials and methods: Blood samples collected from 218 women with histologically confirmed infiltrating ductal breast carcinoma and 290 healthy female controls were analyzed through polymerase chain reaction-restriction fragment length polymorphism methods. Results: The −509TT genotype was significantly associated with a decreased risk for ductal breast carcinoma (OR = 0.47, CI: 0.26-0.82, P = 0.004). Similarly, the −509T was significantly less in ductal breast cancer patients (34.4%) than in control individuals (41.6%; OR = 0.74, CI: 0.57-0.96, P = 0.02). With the exception of association between the −509TT genotype and large tumor size (P = 0.01), there was no significant association between the studied polymorphism and clinicopathological characteristics. Conclusion: The results of this study suggest that polymorphism of TGF-β1 −509C>T gene may modify individual susceptibility to infiltrating ductal breast carcinoma in Russian women of Western Siberian region.