Molecular Analysis Of The Brca1 And Brca2 Genes In Hereditary Breast Or Ovarian Cancer Patients In Qatar (2015-2016)

Abstract

The frequency of BRCA1 and BRCA2 mutations is understudied in Arab women and there are no studies investigating BRCA1/2 mutations in Qatar. In this study, we sequenced BRCA1 and BRCA2 genes in 183 patients suspected of hereditary breast or ovarian cancer residing in Qatar from 2015-2016 using both Next Generation Sequencing Ion torrent PGM and Sanger sequencing with genetic analyzer. Twelve BRCA1/2 (8.22%) mutations were reported in 13 out of 158 patients in this study. Around 5.06% BRCA1 and 3.16% BRCA2 mutations were observed in this study. The mean age at diagnosis of breast cancer in BRCA1 mutation carriers was 39 years and BRCA2 mutation carriers was 43 years. Around 62.5% of BRCA1 mutation carriers exhibited TNBC and no BRCA2 mutations carriers exhibited TNBC. While Sanger sequencing is still the gold standard of sequencing BRCA1/2 gene, high-throughput next-generation sequencing technologies has been an effective, cost efficient and time saving method for molecular genetic testing of BRCA1 and BRCA2. Further extensive studies are required to find the frequently occurring BRCA1/2 mutations and other hereditary breast or ovarian cancer genes that may contribute to breast cancer.