Dihydropyrimidine dehydrogenase testing: capturing what standard genotyping misses with next-generation sequencing.

Abstract excerpt

BACKGROUND: Screening for dihydropyrimidine dehydrogenase (DPD) deficiency has been recommended by both the European Medicines Agency (EMA) and the U.S. Food and Drug Administration (FDA) to prevent fluoropyrimidine toxicity. Depending on national guidelines, it relies on phenotyping or variants genotyping. We assessed the benefit of DPYD sequencing to identify unreported variants that may alter enzyme function....

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