Investigation of Polimorphism of Codon 39 Trp/Arg, Gene CYP19 and Genotype Distribution among Patients with Breast Cancer

Breast cancer is a genetic disease where breast cells proliferate abnormally. Most of the risk factors for breast cancer relate to the increased level or prolonged exposure to estrogen. The polymorphic genes, involved in estrogen biosynthesis and conversion of the estrogen metabolites and products, play an important role in the development of sporadic breast cancer. CYP19 gene, localized at chromosome 15q21.2, encodes aromatase, an important enzyme for estrogen biosynthesis, catalyses the conversion of androgens to estrogens. Any genetic variation at this gene, may alter the aromatase activity and estrogen level. Many gene polymorphisms of CYP19 gene are under inspection, as it is thought to be related to breast cancer potentially. This study was planned to investigate the relationship between breast cancer risk and CYP19 gene codon 39 Trp/Arg polimorphism. Here experimental groups were choosen among the patients who had been surgically operated and histologically confirmed and the controls were not prognosed as breast cancer. After DNA isolation, genotyping was conducted by PCR using two pairs of primers; one pair for T allele (Trp), and one pair for C allele (Arg). It was reported that in Japanese women homozygous and heterozygous carriers of the variant Arg allele showed a significantly increased risk for breast cancer among premenopausal stages. In our study only TT genotype was found in both control and experimental groups.