Breast cancer in the personal genomics era

Rachel E. Ellsworth, David J. Decewicz, Craig D. Shriver, Darrell L. Ellsworth

Research output: Contribution to journalArticlepeer-review

70 Scopus citations


Breast cancer is a heterogeneous disease with a complex etiology that develops from different cellular lineages, progresses along multiple molecular pathways, and demonstrates wide variability in response to treatment. The "standard of care" approach to breast cancer treatment in which all patients receive similar interventions is rapidly being replaced by personalized medicine, based on molecular characteristics of individual patients. Both inherited and somatic genomic variation is providing useful information for customizing treatment regimens for breast cancer to maximize efficacy and minimize adverse side effects. In this article, we review (1) hereditary breast cancer and current use of inherited susceptibility genes in patient management; (2) the potential of newly-identified breast cancer-susceptibility variants for improving risk assessment; (3) advantages and disadvantages of direct-to-consumer testing; (4) molecular characterization of sporadic breast cancer through immunohistochemistry and gene expression profiling and opportunities for personalized prognostics; and (5) pharmacogenomic influences on the effectiveness of current breast cancer treatments. Molecular genomics has the potential to revolutionize clinical practice and improve the lives of women with breast cancer.

Original languageEnglish
Pages (from-to)146-161
Number of pages16
JournalCurrent Genomics
Issue number3
StatePublished - May 2010
Externally publishedYes


  • Breast cancer
  • Gene expression
  • Genetic tests
  • Personal genomics
  • Risk assessment


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