| الملخص | 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. |
