Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

DPYD*2A mutation: the most common mutation associated with DPD deficiency.

Cancer chemotherapy and pharmacology - 1 Sept 2007

Saif M W, Ezzeldin Hany, Vance Katisha, Sellers Sandra, Diasio Robert B

Abstract excerpt

BACKGROUND: Dihydropyrimidine dehydrogenase (DPD) enzyme is responsible for the elimination of approximately 80% of administered dose of 5-FU. DPD deficiency has been associated with severe 5-FU toxicity. Syndrome of DPD deficiency manifests as diarrhea, stomatitis, mucositis, and neurotoxicity and in some cases death. This is a true pharmacogenetic syndrome, with symptoms being unrecognizable until exposure to...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Adenocarcinoma
Share to Aged
Share to Dihydrouracil Dehydrogenase (NADP)

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Fatal Outcome

Share to Fluorouracil

Share to Mutation

Share to Pancreatic Neoplasms

Share to Sequence Analysis, DNA

Source

Identifiers

PMID: 17165084
DOI: 10.1007/s00280-006-0392-5

Genes

DPYD

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.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

DPYD*2A mutation: the most common mutation associated with DPD deficiency.PMID 17165084Read ↗

High-throughput genotyping by DHPLC of the dihydropyrimidine dehydrogenase gene implicated in (fluoro)pyrimidine catabolism.Semantic proximity Read ↗

New DPYD variants causing DPD deficiency in patients treated with fluoropyrimidine.Semantic proximity Read ↗

Known variant DPYD alleles do not explain DPD deficiency in cancer patients.Semantic proximity Read ↗

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

DPYD genotyping and predicting fluoropyrimidine toxicity: where do we stand?Semantic 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 ↗

Capecitabine-based treatment of a patient with a novel DPYD genotype and complete dihydropyrimidine dehydrogenase deficiency.Semantic proximity Read ↗

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

Ethnic Diversity of DPD Activity and the DPYD Gene: Review of the LiteratureSemantic proximity Read ↗

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

The clinical relevance of multiple DPYD polymorphisms on patients candidate for fluoropyrimidine based-chemotherapy. An Italian case-control studySemantic proximity Read ↗

Clinical implications of dihydropyrimidine dehydrogenase (DPD) deficiency in patients with severe 5-fluorouracil-associated toxicity: identification of new mutations in the DPD gene.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.