P53 codon 72 polymorphism in breast cancer

Increased and deregulated proliferative activity due to abnormalities in the cell cycle modulators are frequently observed in cancer. A sequence polymorphism at codon 72 of the p53 gene results in either a proline or an arginine and may induce different functional activities. This polymorphism has been shown to have varying ethnic and geographical distribution. It has been reported that the p53 Arg homozygous genotype could be a potential genetic risk factor for cancer. However, not all investigations have been consistent and this hypothesized association remains controversial. The purpose of this study was to investigate the genotype frequencies and association of the p53 codon 72 polymorphism with breast cancer in Turkish patients. A group of 115 patients with breast cancer and a control group of 76 healthy individuals were enrolled in the study. A significantly higher prevalence of homozygosity for the p53 Arg allele was observed in the patients as compared to the controls. Statistical analysis suggested a strong association between the Arg/Arg genotype and breast cancer.