Homo sapiens Genome sequencing. Homo sapiens

We aimed to test the diagnostic accuracy of current NGS technology in the analysis of mutations that represent current standard-of-care, and its reliability to generate concomitant information on other key genes in human oncogenesis. Thirteen clinical samples (8 lung adenocarcinomas, 3 colon carcinomas and 2 malignant melanomas) already genotyped for EGFR, KRAS and BRAF mutations by current standard-of-care methods (Sanger Sequencing and q-PCR), were analysed for detection of mutations in the same three genes using the Ion Torrent PGM with the Ampliseq Cancer Panel targeting the specific genes.

本研究旨在评估当前下一代测序（NGS，Next-Generation Sequencing）技术在分析符合当前标准诊疗方案的突变时的诊断准确性，以及其在获取人类肿瘤发生过程中其他关键基因伴随信息方面的可靠性。本研究共纳入13份已通过当前标准诊疗方法（桑格测序（Sanger Sequencing）与实时定量聚合酶链式反应（q-PCR，quantitative Polymerase Chain Reaction））完成表皮生长因子受体（EGFR）、Kirsten大鼠肉瘤病毒癌基因同源物（KRAS）及鼠类肉瘤病毒癌基因B型（BRAF）突变基因分型的临床样本，其中包含8份肺腺癌样本、3份结肠癌样本与2份恶性黑色素瘤样本；随后使用搭载靶向特定基因的Ampliseq癌症基因面板（Ampliseq Cancer Panel）的离子激流个人化基因组分析仪（Ion Torrent PGM），对上述3个基因的突变情况开展检测分析。