Association of CYP1A1FNx012 Polymorphisms with breast cancer risk : A case control study

Background :The Cytochrome P-4501A1 (CYP1A1) gene, located on chromosome 15q, is involved in the metabolism of carcinogens mainly polycyclic aromatic hydrocarbons as well as estrogen. It is considered as candidate gene for low-penetrance breast cancer susceptibility. Hence the present study aims to discuss the role of CYP1A1 polymorphisms in breast cancer. Materials and Methods :A total of 250 breast cancer patients and the same number of healthy age-matched controls were analyzed for the polymorphism of CYP1A1FNx012 by polymerase chain reaction-restriction fragment length polymorphism. Results :In the present study, association of CYP1A1FNx012 (Ile 462Val) polymorphism with breast cancer was studied. Only one breast cancer patient was observed to be homozygous for Val allele but none among controls. The frequency of heterozygous Ile/Val genotype was found to be increased significantly in breast cancer patients (68.1%) as compared to controls (51.0%). Higher frequency of heterozygotes for Val allele was observed among premenopausal breast cancer patients and patients with high BMI, positive for HER2/neu status and advanced stage of the disease in comparison to the corresponding groups. No significant association of CYP1A1FNx012 polymorphism was observed with occupation, estrogen receptor and progesterone receptor status of breast cancer patients. Conclusions :In conclusion, our results suggest a significant correlation between CYP1A1FNx012 expression and the occurrence of breast cancer.