TGFBR1 polymorphism and risk of breast cancer in Iranian women

Numerous epidemiological studies have evaluated the association between transforming growth factor beta receptor type 1 (TGFBR1) polymorphisms and the risk of cancer; however, the results remain inconclusive and controversial. To determine the association between breast cancer risk and the *6A polymorphism of the TGFBR1 gene, a case-control study of 280 breast cancer patients and 280 controls was performed in Iranian women. Our study demonstrates that women who carry the TGFBR1*6A allele are at lower risk of developing breast cancer. The highest protection against breast cancer was observed in 6A/6A homozygotes (OR = 0.32, p = 0.04). A lower frequency of the TGFBR1*6A allele in breast cancer patients may be an important genetic determinant that contributes to a lower risk of breast cancer in Iranian women. The results also showed that the allelic length of TGFBR1 polymorphisms had no significant association with the age at onset or the grade of disease, nor with the expression of progesterone and estrogen receptors and HER2.