The association between genetic variants in the genes for cytochrome P450 B1 and ATP-binding cassette transporter genes and breast cancer risk.

Breast cancer is among the most common malignancies in women. Recent studies have shown that polymorphisms in genes involved in the metabolism and transport of anticancer drugs are associated with outcomes of several malignancies, e.g., breast cancer. In this study we evaluate whether CYP1B1/rs1056836 and ABCB1/rs2032582 gene variants are associated with breast cancer. Eighty eight cases and 200 controls, were genotyped for polymorphisms of the CYP1B1 and ABCB1 genes using Taqman®-based methods. Logistic regression was also used to test the associations between breast cancer risk and the various genotypes involved. The GG genotype of rs2032582 locus had a frequency of 43.5% with 0.38 MAF; while the GT and TT genotypes in the control group were 40% and 16.5%, respectively. The GG, GT and TT genotype frequencies in the patients with breast cancer were 45.5%, 12.5% and 26.1%, respectively. An association was observed between the TT genotype of ABCB1/rs2032582 locus and a larger breast cancer tumor size (P < 0.05). However, neither the relationship between the CYP1B1 polymorphism and breast cancer type nor the risk of breast cancer were statistically significant. Our data suggest a potential association of the ABCB1 genetic variant with breast cancer tumor size, however further investigation in a larger population is necessary to show its value as a risk stratification biomarker.