Insight into the heterogeneity of breast cancer through next-generation sequencing

J Clin Invest. 2011 Oct;121(10):3810-8. doi: 10.1172/JCI57088. Epub 2011 Oct 3.


Rapid and sophisticated improvements in molecular analysis have allowed us to sequence whole human genomes as well as cancer genomes, and the findings suggest that we may be approaching the ability to individualize the diagnosis and treatment of cancer. This paradigmatic shift in approach will require clinicians and researchers to overcome several challenges including the huge spectrum of tumor types within a given cancer, as well as the cell-to-cell variations observed within tumors. This review discusses how next-generation sequencing of breast cancer genomes already reveals insight into tumor heterogeneity and how it can contribute to future breast cancer classification and management.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Biomarkers, Tumor / genetics
  • Breast Neoplasms / classification
  • Breast Neoplasms / diagnosis
  • Breast Neoplasms / genetics*
  • Breast Neoplasms / therapy
  • DNA, Neoplasm / genetics
  • Female
  • Genetic Variation
  • Genome, Human
  • Humans
  • Models, Biological
  • Mutation
  • Phenotype
  • Precision Medicine
  • Prognosis
  • Sequence Analysis, DNA


  • Biomarkers, Tumor
  • DNA, Neoplasm