Prevalence of BRCA1 gene mutations in female breast cancer patients in Mazandaran Province, Northern Iran

Abstract Background Breast cancer is one of the major global health concerns, and the investigation of mutations in the BRCA1 gene is essential for prevention and treatment. Carriers of pathogenic BRCA1 gene variants face an increased risk of breast cancer during their lifespan. Mutations in exons 2 and 16 of the BRCA1 gene are common; thus, the study was designed to determine mutations in these exons. Methods In the present study, 40 breast cancer patients, including 20 with a positive family history, were examined for BRCA1 mutation. The BRCA1 gene was analyzed through direct PCR product sequencing. Polyphen-2, sorting intolerant from tolerant (SIFT), and Protein variation effect analyzer (PROVEAN) software were used to predict the role of variants on protein function. Results Six of the breast cancer patients (15%) carried the heterozygous missense polymorphism c.4837A > G (p. Ser1613Gly) in exon 16. In exon 16 of the BRCA1 gene, three homozygous variants (7.5%) c.4837A > G (p. Ser1613Gly) were observed. c.4803delA mutation was detected in 4 patients (10%) in exon 16 of the BRCA1 gene, a novel and pathogenic mutation. Conclusion Women carrying mutations in the BRCA1 gene face a significantly increased lifetime risk of breast cancer-related mortality. Therefore, it is vital to detect BRCA1 gene mutation in carrier women before the onset of cancer so that subsequent preventive strategies such as surgical prevention and chemoprevention can be implemented.