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  • Clinical Implications
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Clinical Implication

Pharmacogenetics in the treatment of breast cancer

The Pharmacogenomics Journal volume 4, pages 143–153 (2004)Cite this article

Carcinoma of the breast remains the most prevalent cancer diagnosed in women in the world. Although breast cancer mortality has declined in the last two decades, breast cancer continues to represent a major threat to the lives and productivity of women. The number of effective treatments for breast cancer is on the rise; however, the benefit from specific treatments to individual patients and the adverse events they experience vary considerably. Efficacy and safety of anticancer therapies may depend on tumor, treatment, and host characteristics.

Small variants in the germline DNA sequence (genotype) may lead to different expression of the encoded protein or to the expression of altered protein, and thus to a different health outcome (phenotype).1,2 The recent completion of the human genome project and advances in high throughput DNA sequencing and proteomic technologies may contribute to the understanding of interindividual variability in health outcomes. Most genetic variants occur in noncoding regions of the genome, and although such variants may result in functional consequences, most known variants that are associated with clinically important functional change are in the exons that code for protein expression.3 While the clinical importance of a large number of pharmacogenetic variants is becoming more clear, the significance of the majority remains speculative while we await larger trials. This review is written in this context of a large amount of research that is rapidly maturing towards a point where testing in clinical populations will become common.

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Acknowledgements

This study was supported in part by Damon Runyon-Lilly Clinical Investigator Award CI-3 from the Damon Runyon Cancer Research Foundation (VS), a Pharmacogenetics Research Network grant, U-01 GM61373 (DF), R-01 GM56898 (DF), a clinical pharmacology training grant 5T32-GM-08425 (DF) from the National Institute of General Medical Sciences, and NIH CA 88843 (NED) all from the National Cancer Institute, Bethesda, MD.

We thank Drs Zeruesenay Desta, Daniel FHayes, Michael D Johnson, and James Rae for helpful discussions.

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Authors and Affiliations

  1. Breast Cancer Program, Sidney Kimmel Comprehensive Cancer Center, Johns Hopkins School of Medicine, Baltimore, MD, USA

    V Stearns & N E Davidson

  2. Division of Clinical Pharmacology, Indiana University School of Medicine, Wishard Hospital, Indianapolis, IN, USA

    D A Flockhart

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  1. V Stearns
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  2. N E Davidson
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  3. D A Flockhart
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Correspondence to V Stearns.

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Stearns, V., Davidson, N. & Flockhart, D. Pharmacogenetics in the treatment of breast cancer. Pharmacogenomics J 4, 143–153 (2004). https://doi.org/10.1038/sj.tpj.6500242

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