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.