Article
Translating DPYD genotype into DPD phenotype: using the DPYD gene activity score.
Pharmacogenomics - 1 Jan 2015
Henricks Linda M, Lunenburg Carin A T C, Meulendijks Didier, Gelderblom Hans, Cats Annemieke, Swen Jesse J, Schellens Jan H M, Guchelaar Henk-Jan
Abstract excerpt
The dihydropyrimidine dehydrogenase enzyme (DPD, encoded by the gene DPYD) plays a key role in the metabolism of fluoropyrimidines. DPD deficiency occurs in 4-5% of the population and is associated with severe fluoropyrimidine-related toxicity. Several SNPs in DPYD have been described that lead to absent or reduced enzyme activity, including DPYD*2A, DPYD*13, c.2846A>T and c.1236G>A/haplotype B3. Since these SNPs...
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