الفهرس 
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Abstract
Biochemistry Department, Genetic Engineering and Biotechnology Research Division, National Research Centre, Dokki, Giza, Egypt; High Throughput Molecular and Genetic Laboratory, Center for Excellences for Advanced Sciences, National Research Centre, Dokki, Giza, Egypt; Biochemistry Department, Faculty of Science, Ain Shams University, Cairo, Egypt; Clinical Oncology Department, Faculty of Medicine, Ain Shams University, Cairo, Egypt.
Germ line mutations of BRCA1 and BRCA2 were correlated with a variety of cancer by using next-generation sequencing (NGS) to detect BRCA1 and BRCA2 germ line mutations in glioblastoma multiform (GBM) Egyptian patients.
Genomic DNA was extracted from fifteen GBM cases and five control, amplified using Ion AmpliSeq BRCA1 and BRCA2 panel. DNA libraries were pooled, barcoded and finally sequenced using Ion Torrent Personal Genome Machine sequencer.
In this study we reported that 31 mutations in BRCA1&2 genes ; 13 for BRCA1 and 18 for BRCA2 three of BRCA2 mutations were denovo mutations one was related to the severity of the GBM disease and hence may affect their future treatment and prognosis.
Regarding the BRCA1 13 SNPs, seven SNPs were found to be in LD, which could shed light on a haplotype risk . Haplotype analysis in enrolled individuals given that 5 haplotypes three of them reported before and two new haplotype that not previously reported.