Heterozygosity for TGF β1 -509C/T Polymorphism is associated with risk for breast cancer in South Indian population.

Transformation growth factor β1 is a multipotent cytokine that mediates the development, differentiation, and neoplasm of the mammary gland. TGF β1 is known to exert both tumor suppressive and progressive effect at different stages of carcinogenesis. Several studies have shown the association of TGF β1 expression with breast cancer markers like estrogen receptor (ER), progesterone receptor (PR), and Her2/neu. TGF β1 expression is known to be influenced by -509C/T promoter polymorphism. Hence, the present study is aimed to evaluate the possible role of TGF β1 -509C/T promoter polymorphism in breast cancer and its association with ER, PR, and Her2 status based on case-control study in South Indian population from Andhra Pradesh. Our study revealed a significant increase of CT genotype in breast cancer patients compared to controls (CT vs. CC: χ (2) = 6.054, P = 0.014, OR 2.005, 95 % CI 1.182-3.403). However, there was no correlation between TGF β1 -509C/T polymorphism and other factors like age at onset, ER, PR, Her2 status, etc. Further, CT genotype was found to be associated with increased risk in advanced stages of breast cancer (CC vs. CT: OR 2.315, 95 % CI 1.143-4.688) and a border line significance with postmenopausal women (CT vs. CC: χ (2) = 3.128, P = 0.07, OR 2.095, 95 % CI 0.991-4.428).