Evaluation of the BRCA2 Gene Variants Association with the Risk of Breast Cancer in the Iranian Population

Abstract

Background: Breast cancer (BC) is the most common cancer among Iranian women. Several factors affect the risk of developing the disease, with genetic factors being considered the most important in hereditary cancers. Mutations in certain genes, such as BRCA2, can lead to protein defects and result in cancer. Objectives: This study aims to investigate the frequency of BRCA2 variants in Iranian patients and their association with BC risk. Methods: In this case-control study, 50 patients and 50 healthy women were included. After DNA extraction from 5 mL of peripheral blood, rs11571833 and rs4987117 were genotyped using AS-PCR. The data were analyzed using SPSS software version 16, with a significance level set at less than 0.05. Results: The mean age of the patients and healthy subjects was 49.38 ± 9.98 and 53.84 ± 9.41, respectively (P = 0.027). The majority of patients were in grade and stage II of the disease. For the rs11571833 variant, the frequency of the T allele was 10% different between the patient and control groups, which was statistically significant (P = 0.020). Additionally, the recessive model of this SNP was associated with BC risk (P = 0.008). Conclusions: BRCA2 gene polymorphisms may play a role in BC, potentially containing one or more major alleles that predispose individuals to the disease. However, further studies are needed to obtain more reliable results.