Using germ-line genetic variation to investigate and treat cancer

Sharon A. Savage, Stephen J. Chanock

Research output: Contribution to journalReview articlepeer-review

6 Scopus citations


For many years, there has been spirited debate as to the relative importance of environmental and genetic factors in the pathogenesis of cancer. Current efforts to annotate the human genome for germ-line genetic variants should establish the foundation for dissecting the contribution of genetics to the risk for cancer susceptibility. Population-based studies should be conducted to determine the influence of germline genetic variation on cancer outcomes, including the efficacy of anti-cancer drugs and the risk for life-threatening toxicities. Although we are early in the investigation of the influence of germline genetics on cancer outcomes, it is likely that, in the future, it will be possible to individualize therapeutic interventions. In turn, knowledge of genetic risk factors could afford opportunities for prevention, early intervention and minimization of deleterious toxicities associated with cancer therapy.

Original languageEnglish (US)
Pages (from-to)610-618
Number of pages9
JournalDrug Discovery Today
Issue number14
StatePublished - Jul 2004
Externally publishedYes


  • Cancer biology
  • Cell biology
  • Drug Discovery
  • Molecular Medicine
  • Pharmaceutical Science
  • cancer
  • cancer therapy
  • genetic variation
  • genome
  • germ lines
  • toxicities

ASJC Scopus subject areas

  • Pharmacology
  • Drug Discovery


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