Mutation and expression analysis of BRCA2 gene in East Java breast cancer cases

Abstract

East, Central, and West Java Provinces have the largest estimated number of people with breast cancer in Indonesia. Breast cancer can be caused by mutations in the RAD51 domain of BRCA2 genes. The purpose of this study was to determine the mutations and binding affinity of RAD51 domains of the BRCA2 proteins. This research also pursued to measure the expression of BRCA2 genes based on TNM stages of breast cancer. Total RNA was isolated from 22 samples provided by Saiful Anwar Regional Public Hospital, East Java, Indonesia. Mutation analysis conducted using Sanger sequencing. Gene expression analyzed using relative q-PCR with standardized OneWay ANOVA. The results of this study indicate that the expression of the BRCA2 gene did not increase significantly. Mutation analysis showed that there was a mutation in the RAD51 domain of the BRCA2 gene in the samples 17 and 19. Mutations that occur did not affect the binding domain structure area which in turn did not affect the binding affinity between the BRCA2 and RAD51 proteins. Moreover, there were no significant changes throughout the protein structure which in turn did not affect the binding structure.