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Germ line mutations of  BRCA1  and  BRCA2  were correlated with a variety of cancer Authors aimed to use next-generation sequencing (NGS) to detect  BRCA1  and  BRCA2  germ line mutations in glioblastoma multiform (GBM) Egyptian patients. Genomic DNA was extracted from six GBM cases, amplified using Ion AmpliSeq  BRCA1  and  BRCA2  panel. DNA libraries were pooled, barcoded and finally sequenced using Ion Torrent Personal Genome Machine sequencer. BRCA1  the previously reported rs1799966, rs1799950, rs16941 were found in five cases and they are in a linkage disequilibrium forming two distinct haplotypes, which might support their role in cancer predisposition. Out of the 18 reported variants in  BRCA2 , three  denovo  mutations were detected which leads to frame shift. Further studies on large number of GBM patients and control cases to determine  BRCA1  and  BRCA2  germline mutations and haplotypes; diagnostic and prognostic role are encouraged.

Next generation sequencing of BRCA genes in glioblastoma multiform Egyptian patients: a pilot study