1. Laboratory testing of CYP2D6 alleles in relation to tamoxifen therapy
- Author
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Stuart A. Scott, Julie Gastier Foster, Kristen K. Reynolds, Patrik Vitazka, Victoria M. Pratt, M. Fernanda Sábato, Glenn E. Palomaki, and Elaine Lyon
- Subjects
Drug ,CYP2D6 ,Antineoplastic Agents, Hormonal ,Genotyping Techniques ,media_common.quotation_subject ,CYP2D6 Gene ,Breast Neoplasms ,Bioinformatics ,digestive system ,Polymorphism, Single Nucleotide ,Breast cancer ,Gene Frequency ,Medicine ,Humans ,Clinical significance ,Tissue Distribution ,Allele ,skin and connective tissue diseases ,Genetics (clinical) ,Alleles ,media_common ,Genetics ,business.industry ,Guideline ,Sequence Analysis, DNA ,medicine.disease ,Tamoxifen ,Cytochrome P-450 CYP2D6 ,Female ,business ,medicine.drug - Abstract
Tamoxifen, a widely prescribed drug for the treatment and prevention of breast cancer, is metabolized to more potent metabolites by the cytochrome P450 2D6 (CYP2D6) enzyme. Variants in the CYP2D6 gene can cause patients to be either intermediate or poor metabolizers, thereby rendering tamoxifen treatment less effective. Testing for CYP2D6 gene variants is available in Clinical Laboratory Improvement Amendments–certified clinical laboratories; however, the biological complexity of the variants makes result interpretation and phenotype prediction challenging. This article describes the clinical significance of variants as well as important analytical, interpretative, and reporting issues. It is designed to be a guideline for clinical laboratory professionals in performing tests and interpreting results with respect to CYP2D6 genetic variants. Genet Med 2012:14(12):990–1000
- Published
- 2012