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癌症中体细胞突变的新兴模式。

Emerging patterns of somatic mutations in cancer.

机构信息

Department of Genomic Medicine, The University of Texas MD Anderson Cancer Center, Houston, Texas 77030, USA.

出版信息

Nat Rev Genet. 2013 Oct;14(10):703-18. doi: 10.1038/nrg3539. Epub 2013 Sep 11.

Abstract

Recent advances in technological tools for massively parallel, high-throughput sequencing of DNA have enabled the comprehensive characterization of somatic mutations in a large number of tumour samples. In this Review, we describe recent cancer genomic studies that have assembled emerging views of the landscapes of somatic mutations through deep-sequencing analyses of the coding exomes and whole genomes in various cancer types. We discuss the comparative genomics of different cancers, including mutation rates and spectra, as well as the roles of environmental insults that influence these processes. We highlight the developing statistical approaches that are used to identify significantly mutated genes, and discuss the emerging biological and clinical insights from such analyses, as well as the future challenges of translating these genomic data into clinical impacts.

摘要

近年来,用于大规模平行、高通量 DNA 测序的技术工具取得了进展,使得对大量肿瘤样本中的体细胞突变进行全面描述成为可能。在这篇综述中,我们描述了最近的癌症基因组研究,这些研究通过对各种癌症类型的编码外显子和全基因组进行深度测序分析,综合了体细胞突变景观的新观点。我们讨论了不同癌症的比较基因组学,包括突变率和突变谱,以及影响这些过程的环境因素的作用。我们强调了用于识别显著突变基因的新兴统计方法,并讨论了这些分析带来的新兴生物学和临床见解,以及将这些基因组数据转化为临床影响所面临的未来挑战。

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