Evaluation of mutations in exon 13 of BRCA1 gene in Patients with Breast Cancer in South Khorasan Province Population

Background and Objective: Breast cancer is one of the most common cancers among women worldwide. It accounts for approximately 23% of all women s cancers in developed countries. Among the genetic factors, BRCA1 and BRCA2 genes are known to be the most susceptible genes in breast cancer cancer, which play an important role in the repair of homologous DNA. Hence, the heritable mutation in each of these repairing genes, together with LOH, resulted in chromosomal instability and ultimately cancer. The aim of this study was to determine the frequency of mutation in exon 13 of BRCA1 gene in breast cancer patients in South Khorasan. Materials and Method: This descriptive study was conducted in 2015-2017 on 88 patients with breast cancer in the Southern Khorasan population referred to as Valiasr University Hospital. DNA extraction was carried out from the whole blood using salting out method, and the desired gene was amplified by polymerase chain reaction. To determine and validate mutation in exon 13, the SSCP and direct sequencing techniques were used. Also, SPSS software version 22 was used for statistical analysis of data. Findings: In this study, the participants had a mean age of 81.45±1.14, of which 12.5 percent had a heritable history of cancer. The study of exon 13 mutation of the BRCA1 gene in patients with breast cancer reportedC.4308T > C polymorphism with a frequency of 14.2 percent in patients with hereditary cancer history. The prevalence of this polymorphism in individuals with a hereditary history from non-hereditary was 36.3% and 31.1%, respectively. Conclusion: In our study around 31.8% of the patients had rs1060915 in exon 13 of the BRCA1 gene. Therefore, it is suggested that rs1060915 to be evaluated in lager samples and in other populations

کلیدواژه ها:

Breast cancer ، BRCA1 gene ، SSCP technique ، DNA mutation