98 BRCA1 and BRCA2 Mutation in Rwandan Unselected Breast Cancer Patients

Abstract Introduction/Objective Background: A mutation in the BRCA1 or BRCA2 gene is responsible for about 5% to 10% of all breast cancers. The majority of research in Rwanda has focused on the hereditary component of breast cancer. To quantify the genetic burden of breast cancer in Rwanda and to organize genetic services, it is crucial to determine the prevalence of mutations among unselected instances of the disease in different parts of the country. The purpose of this study was to determine the BRCA gene mutation rates in breast cancer patients from various Rwandan regions who were not chosen based on their age or family history. Methods/Case Report In Rwanda, we recruited 320 unselected breast cancer patients from major public hospitals that offered anatomical pathology services. Each patient provided a thorough family history, and a blood sample was collected and prepared for DNA analysis. A panel of recurrent Hispanic BRCA mutations, comprising 58 BRCA1 mutations and 51 BRCA2 variants, including the six recurrent Rwandan BRCA mutations, was one of several methods used to look for mutations in BRCA1 and BRCA2. Direct sequencing verified every mutation. Results The findings showed that 282 out of 320 cases (88.1%) had successful genetic testing. Of the 282 instances, six harmful mutations were found, accounting for 2.1% of the total (two in BRCA2 and four in BRCA1). The mean age of the mutation-positive cases of breast cancer was 37 years. 3450del4 in exon 11 and A1708E in exon 18 were the four BRCA1 mutations that were identified as founder mutations. Within exon 11 (5844del5), there were two BRCA2 mutations. Of the six families that tested positive for mutations, three had a history of breast or ovarian cancer, and three did not. Conclusion In conclusion, there are only about 2.1% of unselected breast cancer patients from Rwanda that had BRCA mutations.