Molecular profiling of cancer--the future of personalized cancer medicine: a primer on cancer biology and the tools necessary to bring molecular testing to the clinic

Semin Oncol. 2011 Apr;38(2):173-85. doi: 10.1053/j.seminoncol.2011.01.013.


Cancers arise as a result of an accumulation of genetic aberrations that are either acquired or inborn. Virtually every cancer has its unique set of molecular changes. Technologies have been developed to study cancers and derive molecular characteristics that increasingly have implications for clinical care. Indeed, the identification of key genetic aberrations (molecular drivers) may ultimately translate into dramatic benefit for patients through the development of highly targeted therapies. With the increasing availability of newer, more powerful, and cheaper technologies such as multiplex mutational screening, next generation sequencing, array-based approaches that can determine gene copy numbers, methylation, expression, and others, as well as more sophisticated interpretation of high-throughput molecular information using bioinformatics tools like signatures and predictive algorithms, cancers will routinely be characterized in the near future. This review examines the background information and technologies that clinicians and physician-scientists will need to interpret in order to develop better, personalized treatment strategies.

Publication types

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

MeSH terms

  • Chromosome Aberrations
  • Clinical Trials as Topic
  • Comparative Genomic Hybridization
  • DNA Methylation
  • DNA Repair
  • Gene Fusion
  • Humans
  • Mutation
  • Neoplasms / genetics*
  • Neoplasms / therapy*
  • Oncogenes
  • Precision Medicine*
  • Systems Biology