DPYD genotype should be extended to rare variants: report on two cases of phenotype / genotype discrepancy.

Abstract excerpt

The enzyme dihydropyrimidine dehydrogenase (DPD) is the primary catabolic pathway of fluoropyrimidines including 5 fluorouracil (5FU) and capecitabine. Cases of lethal toxicity have been reported in cancer patients with complete DPD deficiency receiving standard dose of 5FU or capecitabine. DPD is encoded by the pharmacogene DPYD in which more than 200 variants have been identified. Different approaches have been...

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• Capecitabine
• Aged
• Antimetabolites, Antineoplastic
• Dihydrouracil Dehydrogenase (NADP)
• Fluorouracil