Dana-Farber Cancer Institute, Department of Medical Oncology, Boston, Massachusetts 02115; email:
Annu Rev Med. 2014;65:63-79. doi: 10.1146/annurev-med-060712-200152. Epub 2013 Nov 20.
DNA sequencing has taught us much about the structure of cancer genomes and enabled the discovery of novel genes that drive and maintain tumorigenesis. With the advent and application of next-generation massively parallel sequencing technologies, one can rapidly generate and analyze data from the cellular "-omes": genomes, exomes, and transcriptomes. This review highlights recent genomic discoveries in signal transduction, metabolism, epigenetic modifications, cell cycle and genome maintenance, RNA processing, and transcription. Additionally, genomic sequencing has revealed the complexity of the cancer genome and has enabled the discovery of functional rearrangements with therapeutic and diagnostic potentials.
DNA 测序让我们对癌症基因组的结构有了更多的了解，并发现了一些新的基因，这些基因可以驱动和维持肿瘤的发生。随着新一代大规模平行测序技术的出现和应用，人们可以快速生成和分析来自细胞的“组学”数据：基因组、外显子组和转录组。本文重点介绍了信号转导、代谢、表观遗传修饰、细胞周期和基因组维持、RNA 处理和转录等方面的最新基因组发现。此外，基因组测序揭示了癌症基因组的复杂性，并发现了具有治疗和诊断潜力的功能重排。
