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Article

Two cases of 5-fluorouracil toxicity linked with gene variants in the DPYD gene.

Clinical biochemistry - 1 Feb 2010

Ofverholm Anna, Arkblad Eva, Skrtic Stanko, Albertsson Per, Shubbar Emman, Enerbäck Charlotta

Abstract excerpt

OBJECTIVES: Dihydropyrimidine dehydrogenase (DPD) is the initial rate-limiting enzyme in endogenous pyrimidine catabolism and is responsible for the reduction of the pyrimidine analog 5-fluorouracil (5-FU). DPD deficiency is known to cause potentially lethal toxicity in patients receiving 5-FU. We here report a frequency analysis of one of the major splice-site mutations in the DPDY gene, and further two new DPYD...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Share to Polymorphism, Restriction Fragment Length

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Source

Identifiers

PMID: 19822137
DOI: 10.1016/j.clinbiochem.2009.09.024

Genes

DPYD

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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Two cases of 5-fluorouracil toxicity linked with gene variants in the DPYD gene.PMID 19822137Read ↗

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Dihydropyrimidine dehydrogenase gene as a major predictor of severe 5-fluorouracil toxicity.Semantic proximity Read ↗

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Clinical implications of dihydropyrimidine dehydrogenase (DPD) activity in 5-FU-based chemotherapy: mutations in the DPD gene, and DPD inhibitory fluoropyrimidines.Semantic proximity Read ↗

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Intragenic deletions and a deep intronic mutation affecting pre-mRNA splicing in the dihydropyrimidine dehydrogenase gene as novel mechanisms causing 5-fluorouracil toxicitySemantic proximity Read ↗

Phenotypic and clinical implications of variants in the dihydropyrimidine dehydrogenase gene.Semantic proximity Read ↗

Lethal outcome of a patient with a complete dihydropyrimidine dehydrogenase (DPD) deficiency after administration of 5-fluorouracil: frequency of the common IVS14+1G>A mutation causing DPD deficiency.Semantic proximity Read ↗

5-Fluorouracil toxicity-attributable IVS14 + 1G > A mutation of the dihydropyrimidine dehydrogenase gene in Polish colorectal cancer patients.Semantic proximity Read ↗

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