Evaluation of BRCA1 gene mutation in region of exon 20 in patients with Breast neoplasm, South Khorasan Province, Iran

Background and Objective: Breast neoplasm is one of the most prevalent health problems in women with a heavy mortality rate. Genetic agents play an effective role in the incidence of breast neoplasm.destruction in the DNA repair paths are related with malignancies progression, So that Mutation in BRCA1 gene is an important cause in the occurrence congenital breast neoplasm. In the Research, we intended to investigate BRCA1 gene mutation in region of exon 20 in patients with Breast neoplasm in South of Khorasan, Iran, since 2015 to 2017. Materials and Method: In order to do this study, genomic DNA was extracted from the 88 peripheral blood samples of patients with breast neoplasm and augmented the target gene utilizing the polymerase chain reaction (PCR). Then, it was investigated mutation of exon 20 in the BRCA1 gene by PCR-SSCP technique, silver staining and gene sequencing. All data analysed utilizing the SPSS program version 22.0 software. Findings:None the mutation was detected in the region of exon 20 in the BRCA1 gene. Conclusion: In this search, mutation did not happen in the exon 20 of BRCA1 gene.Therefore,our data suggest no association between BRCA1 gene mutation in region of exon 20 and breast neoplasm in the patients.

کلیدواژه ها:

Breast neoplasm ، BRCA1 gene ، PCR-SSCP technique