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Article

Phenotypic and clinical implications of variants in the dihydropyrimidine dehydrogenase gene.

Biochimica et biophysica acta - 1 Apr 2016

Kuilenburg André B P van, Meijer Judith, Tanck Michael W T, Dobritzsch Doreen, Zoetekouw Lida, Dekkers Lois-Lee, Roelofsen Jeroen, Meinsma Rutger, Wymenga Machteld, Kulik Wim, Büchel Barbara, Hennekam Raoul C M, Largiadèr Carlo R

Abstract excerpt

Dihydropyrimidine dehydrogenase (DPD) is the initial and rate-limiting enzyme in the catabolism of the pyrimidine bases uracil, thymine and the antineoplastic agent 5-fluorouracil. Genetic variations in the gene encoding DPD (DPYD) have emerged as predictive risk alleles for 5FU-associated toxicity. Here we report an in-depth analysis of genetic variants in DPYD and their consequences for DPD activity and...

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Source

Identifiers

PMID: 26804652
DOI: 10.1016/j.bbadis.2016.01.009

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.

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Phenotypic and clinical implications of variants in the dihydropyrimidine dehydrogenase gene.PMID 26804652Read ↗

Haplotype structure defines effects of common DPYD variants c.85T > C (rs1801265) and c.496A > G (rs2297595) on dihydropyrimidine dehydrogenase activity: Implication for 5-fluorouracil toxicity.Semantic proximity Read ↗

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

Comparative Functional Analysis of <i>DPYD</i> Variants of Potential Clinical Relevance to Dihydropyrimidine Dehydrogenase ActivitySemantic proximity Read ↗

Severe fluoropyrimidine toxicity due to novel and rare DPYD missense mutations, deletion and genomic amplification affecting DPD activity and mRNA splicing.Semantic proximity Read ↗

Implications of Dihydropyrimidine Dehydrogenase on 5-Fluorouracil Pharmacogenetics and PharmacogenomicsSemantic proximity Read ↗

A comprehensive population-based study comparing the phenotype and genotype in a pretherapeutic screen of dihydropyrimidine dehydrogenase deficiency.Semantic proximity Read ↗

Dihydropyrimidine Dehydrogenase Testing prior to Treatment with 5-Fluorouracil, Capecitabine, and Tegafur: A Consensus Paper.Semantic proximity Read ↗

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

Predicting Dihydropyrimidine Dehydrogenase Deficiency and Related 5-Fluorouracil Toxicity: Opportunities and Challenges of DPYD Exon Sequencing and the Role of Phenotyping AssaysSemantic proximity Read ↗

Undetected toxicity risk in pharmacogenetic testing for dihydropyrimidine dehydrogenase.Semantic proximity Read ↗

Analysis of the DPYD gene implicated in 5-fluorouracil catabolism in a cohort of Caucasian individuals.Semantic proximity Read ↗

Integrating rare genetic variants into DPYD pharmacogenetic testing may help preventing fluoropyrimidine-induced toxicity.Semantic proximity Read ↗

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