BRCA1 Gene 5382insC Polymorphism and its Associated Risk Factor among Breast Cancer Patients in the University of Gondar Comprehensive Specialized and Felege Hiwot Referral Hospital, Northwest Ethiopia

Background: Breast cancer is the most common cancer that causes death among women worldwide. In Ethiopia, though there has not been an adequate study, the incidence of new cases of breast cancer is currently increasing and has become one of the most common cancer types, causing high rates of morbidity and mortality. Mutation in the BRCA1 gene in 5832insC regions has been demonstrated as the most common genetic factor that increases the occurrence of breast cancer. Thus, this study aimed to detect the frequency of 5832insC gene polymorphism in the BRCA1 gene and its associated risk factors among breast cancer-positive patients visiting the study sites. Materials and Methods: A cross-sectional study was conducted on 100 blood samples of females with breast cancer. Following genomic DNA isolation, PCR amplification was done using specific primer pairs for 5832insC BRCA1 regions. The amplified products were digested with restriction enzymes (HinfI) to detect 5382insC polymorphism. Results: Based on the findings of this study, family history was the only variable that had a significant association (P = 0.001) with 5382insC mutation in the BRCA1 gene. On the other hand, alcohol consumption (P = 0.542), age (P = 0.376), and residence zone (P = 0.856) of the participant did not show any association for this mutation. The total frequency of 5382insC BRCA1 gene mutations in the study participants was found to be 6%. Conclusion: The present study confirmed that 5382insC was the potential BRCA1 alterations that have been encountered in most breast cancer patients in the study area. The use of molecular techniques for early breast cancer detection is highly recommended to improve treatment efficiency and minimize the rate of mortality.