Investigating the Prevalence of Brca1 and Brca2 Gene Mutations in Patients With Breast Cancer



Tajadini MH¹ ; Khadem H² ; Pourhosein M³ ; Sabzghabaee AM⁴ ; Hemati S⁵ ; Sadeghi HM⁶ Show Affiliations
Source: Journal of Isfahan Medical School Published:2013

Abstract

Background: Breast cancer is the most common cancer among women. Genetic is a proven risk factor in this disease. As breast cancer genes (BRCA1 and BRCA2) affect the incidence of this type of cancer, identification of mutation carriers is important in reduction of the overall risk. The purpose of this study was to determine the prevalence of BRCA1 and BRCA2 mutations in patients with breast cancer using high resolution melting (HRM) analysis. Methods: Blood samples of 41 female patients with breast cancer and 20 healthy women were collected randomly. The studied mutations were 185delAG, 5382insC, 3889delAG and 1476delG in BRCA1 and 6174delT and 6033-34insGT in BRCA2. Genomic DNA was extracted from blood samples. Forward and reverse primers were designed for each mutation. DNA samples of healthy individuals were sequenced to make sure about the absence of the studied mutations. Real-time polymerase chain reaction (PCR) and HRM analysis were performed and HRM and melting curves were plotted for all samples. For each mutation, some random samples were sequenced. The curves in the case and control groups were compared for each mutation. Findings: The desired mutations were not observed in any samples of the case group. Sequenced samples confirmed the HRM results. Conclusion: Due to the low number of samples and lack of known native mutations, observation and identification of mutations seem to be impossible in studies such as the present one. However, this study can serve as a base for extensive and applied studies of native and non-native mutations in Iranian population.