Division of Cancer Sciences, University of Southampton, Southampton, Hampshire, SO16 6YD, UK.
Department of Biotechnological and Applied Clinical Sciences, University of L'Aquila, L'Aquila, 67100, Italy.
J Transl Med. 2017 Dec 8;15(1):246. doi: 10.1186/s12967-017-1353-y.
Since the establishment of the Sanger sequencing method, scientists around the world focused their efforts to progress in the field to produce the utmost technology. The introduction of next-generation sequencing (NGS) represents a revolutionary step and promises to lead to massive improvements in our understanding on the role of nucleic acids functions. Cancer research began to use this innovative and highly performing method, and interesting results started to appear in colorectal cancer (CRC) analysis. Several studies produced high-quality data in terms of mutation discovery, especially about actionable or less frequently mutated genes, epigenetics, transcriptomics. Analysis of results is unveiling relevant perspectives aiding to evaluate the response to therapies. Novel evidences have been presented also in other directions such as gut microbiota or CRC circulating tumor cells. However, despite its unquestioned potential, NGS poses some issues calling for additional studies. This review intends to offer a view of the state of the art of NGS applications to CRC through examination of the most important technologies and discussion of recent published results.
自桑格测序方法建立以来,世界各地的科学家都致力于在该领域取得进展,以生产出最先进的技术。下一代测序(NGS)的引入代表了一个革命性的步骤,并有望极大地提高我们对核酸功能的理解。癌症研究开始使用这种创新的、高性能的方法,有趣的结果开始出现在结直肠癌(CRC)分析中。一些研究在突变发现方面产生了高质量的数据,特别是关于可操作或突变较少的基因、表观遗传学、转录组学。对结果的分析揭示了相关的观点,有助于评估对治疗的反应。在其他方面,如肠道微生物群或 CRC 循环肿瘤细胞,也提出了新的证据。然而,尽管 NGS 具有无可置疑的潜力,但它也存在一些需要进一步研究的问题。这篇综述旨在通过检查最重要的技术和讨论最近发表的结果,提供 NGS 在 CRC 中的应用的最新技术状况。