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Article

Mutations in exon 14 of dihydropyrimidine dehydrogenase and 5-Fluorouracil toxicity in Portuguese colorectal cancer patients.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Jan 2000

Salgueiro Natália, Veiga Isabel, Fragoso Maria, Sousa Olga, Costa Nuno, Pellon Maria L, Sanches Evaristo, dos Santos José Guimarães, Teixeira Manuel R, Castedo Sérgio

Abstract excerpt

PURPOSE: Dihydropyrimidine dehydrogenase is a critical enzyme in the catabolism of 5-Fluorouracil, a drug frequently used in cancer therapy. Patients with deficient dihydropyrimidine dehydrogenase activity are at risk of developing severe 5-Fluorouracil-associated toxicity. Genetic analysis of the gene coding for dihydropyrimidine dehydrogenase has shown that mutations in exon 14, especially the splice-site...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 15017333
DOI: 10.1097/01.gim.0000118061.66602.a5

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

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Mutations in exon 14 of dihydropyrimidine dehydrogenase and 5-Fluorouracil toxicity in Portuguese colorectal cancer patients.PMID 15017333Read ↗

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

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

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 ↗

[Pharmacogenetics in oncology: 5-fluorouracil and the dihydropyrimidine dehydrogenase].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 ↗

Dihydropyrimidine dehydrogenase and the efficacy and toxicity of 5-fluorouracil.Semantic proximity Read ↗

Evaluation of adverse effects of chemotherapy regimens of 5-fluoropyrimidines derivatives and their association with DPYD polymorphisms in colorectal cancer patients.Semantic proximity Read ↗

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

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

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

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