Open AccessLaboratory testing of CYP2D6 alleles in relation to tamoxifen therapy
Author(s) -
Elaine Lyon,
Julie Gastier Foster,
Glenn E. Palomaki,
Victoria M. Pratt,
Kristen K. Reynolds,
Mariangela Sabato,
Stuart A. Scott,
Patrik Vitazka
Publication year - 2012
Publication title -
genetics in medicine
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 3.509
H-Index - 128
eISSN - 1530-0366
pISSN - 1098-3600
DOI - 10.1038/gim.2012.108
Subject(s) - cyp2d6 , tamoxifen , guideline , breast cancer , clinical significance , medicine , genetic testing , pharmacogenomics , bioinformatics , pharmacogenetics , allele , biology , oncology , gene , computational biology , pharmacology , genetics , cancer , pathology , genotype
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.
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