Background: Germ line mutations of and were correlated with a variety of cancer Authors aimed to use next-generation sequencing (NGS) to detect and germ line mutations in glioblastoma multiform (GBM) Egyptian patients.
Materials And Methods: Genomic DNA was extracted from six GBM cases, amplified using Ion AmpliSeq and panel. DNA libraries were pooled, barcoded and finally sequenced using Ion Torrent Personal Genome Machine sequencer.
Results: 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 , three mutations were detected which leads to frame shift.
Conclusion: Further studies on large number of GBM patients and control cases to determine and germline mutations and haplotypes; diagnostic and prognostic role are encouraged.
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| http://dx.doi.org/10.1080/13813455.2020.1729814 | DOI Listing |
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