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

Rapid detection of the DPYD IVS14+1G>A mutation for screening patients to prevent fluorouracil-related toxicity.

Molecular diagnosis & therapy - 1 Jan 2007

Bosch Tessa M, Bakker Remko, Schellens Jan H M, Cats Annemieke, Smits Paul H M, Beijnen Jos H

Abstract excerpt

BACKGROUND: Deficiency of dihydropyrimidine dehydrogenase (DPD) has been linked to severe or lethal fluorouracil (FU)-related toxicity. The most prominent mutation in the DPYD gene is the IVS14+1G>A mutation, which causes skipping of exon 14 in the messenger RNA (mRNA) and results in DPD enzyme d...

Read the complete abstract on PubMed

Topics

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

Share to Dihydrouracil Dehydrogenase (NADP)
Share to DNA Mutational Analysis
Share to Fluorouracil

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Gene Frequency

Share to Mutation

Share to Protein Structure, Tertiary

Share to Reverse Transcriptase Polymerase Chain Reaction

Share to Time Factors

Source

Identifiers

PMID: 17397246
DOI: 10.1007/BF03256229

Genes

DPYD

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-17397246-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Rapid detection of the DPYD IVS14+1G>A mutation for screening patients to prevent fluorouracil-related toxicity.PMID 17397246Read ↗

Investigation of IVS14+ 1G > A polymorphism of DPYD gene in a group of Turkish patients with colorectal cancer.Semantic proximity Read ↗

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

Prevalence of a common point mutation in the dihydropyrimidine dehydrogenase (DPD) gene within the 5'-splice donor site of intron 14 in patients with severe 5-fluorouracil (5-FU)- related toxicity compared with controls.Semantic proximity Read ↗

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

Preemptive screening of DPYD as part of clinical practice: high prevalence of a novel exon 4 deletion in the Finnish population.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 ↗

Developing DPYD Genotyping Method for Personalized Fluoropyrimidines Therapy.Semantic proximity Read ↗

High prevalence of the IVS14 + 1G>A mutation in the dihydropyrimidine dehydrogenase gene of patients with severe 5-fluorouracil-associated toxicity.Semantic proximity Read ↗

Implementation of upfront DPYD genotyping with a low-cost and high-throughput assay to guide fluoropyrimidine treatment in cancer patients.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 ↗

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

Characterization of a rare nonpathogenic sequence variant (c.1905C>T) of the dihydropyrimidine dehydrogenase gene (DPYD).Semantic proximity Read ↗

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