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Article

Uncommon dihydropyrimidine dehydrogenase mutations and toxicity by fluoropyrimidines: a lethal case with a new variant.

Pharmacogenomics - 1 Jan 2016

Del Re Marzia, Quaquarini Erica, Sottotetti Federico, Michelucci Angela, Palumbo Raffaella, Simi Paolo, Danesi Romano, Bernardo Antonio

Abstract excerpt

DPD is the rate-limiting enzyme involved in the metabolism of 5-fluorouracil and its prodrugs, capecitabine and tegafur. Many cases of severe toxicities by fluoropyrimidines are reported in the literature, sometimes with lethal outcome, due to a poor or null metabolizer phenotype. The exon 14-skipping mutation IVS14+1G>A and the c.2846A>T are the most common deficient variants. However, many additional variants...

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Source

Identifiers

PMID: 26651493
DOI: 10.2217/pgs.15.146

Genes

DPYD

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Uncommon dihydropyrimidine dehydrogenase mutations and toxicity by fluoropyrimidines: a lethal case with a new variant.PMID 26651493Read ↗

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