作者: Sandy Chevrier , Laurent Arnould , François Ghiringhelli , Bruno Coudert , Pierre Fumoleau
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摘要: The development of targeted therapies in cancer has accelerated the molecular diagnosis. This new discipline is booming, with an increasing number gene alterations to analyze a growing patients. To deal this fast-developing activity, current analysis techniques (Sanger sequencing, allelic discrimination and high resolution melting) take more time. In recent years, next generation sequencing (NGS) technologies have appeared given perspectives oncology. study, we analyzed FFPE lung colon carcinomas using Truseq Cancer Panel, which analyzes mutation hotspots 48 genes. We also tested use whole-genome amplification before NGS analysis. results were compared data obtained from routine All routinely observed identified by NGS. Moreover, revealed mutations KRAS EGFR genes patients diagnosed as wild-type techniques. concomitant or BRAF mutations, 15-nt deletion exon 19 carcinomas. study other sequenced Panel 14 altered 27 different three SNP possible role susceptibility response treatment. conclusion, showed that could be used for gDNA extracted tissues. However, sensitivity technology, high-throughput clinical trials are needed confirm its reliability diagnosis cancer.