Article
Genotyping of a family with a novel deleterious DPYD mutation supports the pretherapeutic screening of DPD deficiency with dihydrouracil/uracil ratio.
Clinical pharmacology and therapeutics - 1 Feb 2016
Thomas F, Hennebelle I, Delmas C, Lochon I, Dhelens C, Garnier Tixidre C, Bonadona A, Penel N, Goncalves A, Delord J P, Toulas C, Chatelut E
Abstract excerpt
Despite the growing evidence that dihydropyrimidine dehydrogenase deficiency (DPD, encoded by the DPYD gene) confers a higher risk of developing severe toxicity, most patients are not screened for DPD deficiency before fluoropyrimidine treatment. We report here the genetic and phenotypic analyses of DPD in a family related to a patient who died after a first cycle of 5-fluorouracil and in 15 additional...
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