Emerging patterns of somatic mutations in cancer

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.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Exome / genetics
  • Genome, Human / genetics*
  • Genomics / methods*
  • High-Throughput Nucleotide Sequencing
  • Humans
  • Mutation
  • Mutation Rate
  • Neoplasms / genetics*
  • Sequence Analysis, DNA