TP53 Arg72Pro Gene Polymorphism and Risk of Breast Cancer among Kabardino-Balkarian population

Abstract

Tumor suppressor gene (TP53 or P53) is considered as the most frequently mutated gene in almost all forms of human cancer. In addition to mutations that inactivate p53 functions, numerous single nucleotide polymorphisms (SNPs) have been identified in the p53 gene that also affect the molecular function of the p53 protein. The most frequently studied SNPs in the p53 pathway were identified in codon 72 (rs1042522). This variant leads to an arginine-to-proline amino acid substitution, altering the apoptotic function of p53. We investigated the occurrence of the Arg72Pro polymorphism (rs1042522) of the p53 gene in breast cancer patients in Kabardino-Balkaria (Russia).