Cancer genomics: technology, discovery, and translation

Ben Tran, Janet E. Dancey, Suzanne Kamel-Reid, John Douglas Mcpherson, Philippe L. Bedard, Andrew M K Brown, Tong Zhang, Patricia Shaw, Nicole Onetto, Lincoln Stein, Thomas J. Hudson, Benjamin G. Neel, Lillian L. Siu

Research output: Contribution to journalReview articlepeer-review

128 Scopus citations

Abstract

In recent years, the increasing awareness that somatic mutations and other genetic aberrations drive human malignancies has led us within reach of personalized cancer medicine (PCM). The implementation of PCM is based on the following premises: genetic aberrations exist in human malignancies; a subset of these aberrations drive oncogenesis and tumor biology; these aberrations are actionable (defined as having the potential to affect management recommendations based on diagnostic, prognostic, and/or predictive implications); and there are highly specific anticancer agents available that effectively modulate these targets. This article highlights the technology underlying cancer genomics and examines the early results of genome sequencing and the challenges met in the discovery of new genetic aberrations. Finally, drawing from experiences gained in a feasibility study of somatic mutation genotyping and targeted exome sequencing led by Princess Margaret Hospital-University Health Network and the Ontario Institute for Cancer Research, the processes, challenges, and issues involved in the translation of cancer genomics to the clinic are discussed.

Original languageEnglish (US)
Pages (from-to)647-660
Number of pages14
JournalJournal of Clinical Oncology
Volume30
Issue number6
DOIs
StatePublished - Feb 20 2012
Externally publishedYes

ASJC Scopus subject areas

  • Cancer Research
  • Oncology

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