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下一代测序(next generation sequencing,NGS)已经被广泛用于鉴定导致肺癌最重要的驱动基因。与Sanger测序等传统测序策略相比,NGS具有若干突出优势,包括能测定全基因组、全外显子组或转录组中几乎所有基因的序列,能同时检测如碱基替换(突变)、插入、缺失、拷贝数变种、结构变种、基因融合等等。近几年来,科学家们成功地对肺腺癌、鳞癌和小细胞癌等三种肺癌进行了若干综合性的NGS研究,一方面验证了此前已发现的肺癌驱动基因的重要性,另一方面揭示了一些此前在肺癌中未被深入研究的重要驱动基因。在所研究的大多数肺癌样本中存在这些基因的功能性体细胞基因变异,导致了对肺癌发展具有直接影响的关键信号通路的异常。可以预期,不断被发现了解的新肺癌驱动基因将为发现肺癌预防和治疗最佳靶标提供前所未有的机遇。
Next generation sequencing (NGS) has been widely used to identify the most important driver genes that cause lung cancer. Compared with traditional sequencing strategies such as Sanger sequencing, NGS has several outstanding advantages, including the ability to determine the sequence of almost all genes in the whole genome, in the whole exome or in the transcriptome, to simultaneously detect such as base substitutions (mutations), insertions, Deletion, copy number variants, structural variants, gene fusion and the like. In recent years, scientists have conducted a number of comprehensive NGS studies on three types of lung cancer: lung adenocarcinoma, squamous cell carcinoma and small cell carcinoma. On the one hand, they have verified the importance of the previously discovered lung cancer-driven genes. On the other hand, Revealed some important driving genes that had not been previously studied in lung cancer. The presence of functional somatic genetic variations of these genes in most of the lung cancer samples studied led to aberrations in the key signaling pathways that have a direct effect on the development of lung cancer. It is expected that the ever-discovering new lung cancer driver will provide an unprecedented opportunity to discover the best targets for lung cancer prevention and treatment.