Next-generation sequencing

Breast Cancer Res. 2009;11 Suppl 3(Suppl 3):S12. doi: 10.1186/bcr2431. Epub 2009 Dec 18.


Next-generation sequencing (also known as massively parallel sequencing) technologies are revolutionising our ability to characterise cancers at the genomic, transcriptomic and epigenetic levels. Cataloguing all mutations, copy number aberrations and somatic rearrangements in an entire cancer genome at base pair resolution can now be performed in a matter of weeks. Furthermore, massively parallel sequencing can be used as a means for unbiased transcriptomic analysis of mRNAs, small RNAs and noncoding RNAs, genome-wide methylation assays and high-throughput chromatin immunoprecipitation assays. Here, I discuss the potential impact of this technology on breast cancer research and the challenges that come with this technological breakthrough.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Breast Neoplasms / diagnosis
  • Breast Neoplasms / genetics*
  • Female
  • Genetic Predisposition to Disease / genetics
  • Genome, Human*
  • Humans
  • Mutation
  • Sequence Analysis, DNA / methods*