DNA sequencing of cancer: what have we learned?

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.

Publication types

  • Review

MeSH terms

  • Cell Cycle / genetics
  • DNA Mutational Analysis*
  • Epigenesis, Genetic
  • Gene Rearrangement
  • Humans
  • Mitogen-Activated Protein Kinases / genetics
  • Mitogen-Activated Protein Kinases / metabolism
  • Neoplasms / genetics*
  • Neoplasms / metabolism
  • Oncogene Fusion
  • Oncogene Protein v-akt / genetics
  • Oncogene Protein v-akt / metabolism
  • RNA / metabolism
  • Signal Transduction / genetics*
  • Transcription Factors / genetics
  • Transcription, Genetic


  • Transcription Factors
  • RNA
  • Oncogene Protein v-akt
  • Mitogen-Activated Protein Kinases