Dana-Farber Cancer Institute, Boston, Massachusetts 02115, USA.
Nat Rev Genet. 2010 Oct;11(10):685-96. doi: 10.1038/nrg2841.
Cancers are caused by the accumulation of genomic alterations. Therefore, analyses of cancer genome sequences and structures provide insights for understanding cancer biology, diagnosis and therapy. The application of second-generation DNA sequencing technologies (also known as next-generation sequencing) - through whole-genome, whole-exome and whole-transcriptome approaches - is allowing substantial advances in cancer genomics. These methods are facilitating an increase in the efficiency and resolution of detection of each of the principal types of somatic cancer genome alterations, including nucleotide substitutions, small insertions and deletions, copy number alterations, chromosomal rearrangements and microbial infections. This Review focuses on the methodological considerations for characterizing somatic genome alterations in cancer and the future prospects for these approaches.
癌症是由基因组改变的积累引起的。因此，对癌症基因组序列和结构的分析为理解癌症生物学、诊断和治疗提供了线索。第二代 DNA 测序技术（也称为下一代测序）的应用——通过全基因组、全外显子组和全转录组方法——正在推动癌症基因组学的实质性进展。这些方法提高了检测每种主要类型体细胞癌症基因组改变的效率和分辨率，包括核苷酸替换、小插入和缺失、拷贝数改变、染色体重排和微生物感染。这篇综述重点介绍了在癌症中描述体细胞基因组改变的方法学考虑因素，以及这些方法的未来前景。
