Abstract
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.
Highlights
Breast cancer is the most frequently occurring cancer and the leading cause of death in women between 20 and 59 years of age in the United States [1]
We critically examine the role of inherited and somatic genomic variation in breast cancer, outlining the predictive utility of susceptibility variants, extent and potential information content of cancer genomics, and the promise of personalized medicine and personalized oncology
The era of personalized molecular medicine for breast cancer is on the horizon
Summary
Breast cancer is the most frequently occurring cancer and the leading cause of death in women between 20 and 59 years of age in the United States [1]. A second group of researchers subsequently developed a 76-gene profile (Rotterdam signature) that could identify breast cancer patients at high risk for distant recurrence.
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