DPYD
HGNC ↗15 article(s) in the watch · Pharmacogenomics
DPYD encodes dihydropyrimidine dehydrogenase, the rate-limiting enzyme of fluoropyrimidine catabolism (5-fluorouracil, capecitabine). Constitutional deficiency exposes patients to severe, sometimes fatal toxicity; pre-treatment DPYD genotyping is recommended (CPIC; in France RNPGx and INCa-HAS).
Drugs involved: fluoropyrimidines: 5-fluorouracil, capecitabine, tegafur
Recommendation: CPIC level A · RNPGx "essential" (DPD deficiency screening)
Curated publications
DPYD Sequencing Identifies More Clinically Relevant Variants as Compared to Targeted Genotyping
DPYD deficiency — exhaustive sequencing vs targeted genotyping to identify patients at risk of fluoropyrimidine toxicity
Importance of and Strategies for Implementing DPYD Testing to Prevent Severe Fluoropyrimidine Chemotherapy Toxicity in Health Care Systems
DPYD testing implementation before fluoropyrimidines — 2025 FDA recommendations and institutional deployment strategies
Integrating Somatic and Germline Pharmacogenomics for Therapeutic Decisions in Precision Oncology.
Pharmacogenomics in precision oncology — somatic + germline integration in 10,302 cancer patients (TCGA)
Importance of and Strategies for Implementing DPYD Testing to Prevent Severe Fluoropyrimidine Chemotherapy Toxicity
Severe fluoropyrimidine toxicity (5-FU, capecitabine, tegafur) — neutropenia, severe mucositis, death
DPYD c.85 T > C, DPYD c.496 A>G, and DPYD c.2194 G>A and severe toxicity to fluoropyrimidines in PREPARE and Alpe-DPD trials. An original study and meta-analysis.
Severe fluoropyrimidine-related toxicity
The variant c.2766+3A>T in DPYD leads to exon 21 skipping and is associated with DPD deficiency and severe fluoropyrimidine toxicity.
Dihydropyrimidine dehydrogenase deficiency and fluoropyrimidine toxicity
DPYD polymorphisms in Native populations from the Brazilian Amazon: the absence of the variants in currently recommended clinical genotyping panels
Fluoropyrimidine toxicity — DPYD variants in indigenous populations
DPYD and UGT1A1 Genotype-Based Dosing for Fluoropyrimidines and Irinotecan Chemotherapy: Variant-Specific Impact on Treatment Intensity and Toxicity.
Fluoropyrimidine and irinotecan toxicity
Considerations for the clinical implementation of DPYD and UGT1A1-guided chemotherapy
DPYD and UGT1A1 — clinical implementation of pharmacogenomic testing guiding fluoropyrimidine and irinotecan chemotherapy
Clinical response to capecitabine in a DPYD*2A homozygous patient: Case report and therapeutic guidance.
Complete DPD deficiency (DPYD2A homozygous) — ultra-low-dose capecitabine
Cost-effectiveness of DPYD genotyping prior to fluoropyrimidine-based treatment for colorectal cancer in Wales.
Colorectal cancer — fluoropyrimidine toxicity
Dihydropyrimidine dehydrogenase (DPYD) genetic testing and treatment with 5-fluoropyrimidines in cancer patients
Cancer — prevention of 5-fluoropyrimidine toxicity
Characterization of DPYD pharmacogenetic variation in Mexican patients with gastrointestinal malignancies.
Fluoropyrimidine toxicity in gastrointestinal cancers
Prevalence and clinical impact of the uncommon DPYD c.257C>T (Pro86Leu) variant in a multiethnic cohort receiving fluoropyrimidine therapy.
Severe fluoropyrimidine toxicity
DPYD Genotyping of Patients with Fluoropyrimidine Treatment: Results of Protocol Implementation and Outcomes of Patients Carrying Unusual DPYD Variants
Fluoropyrimidine toxicity
Frequently asked questions
Which drugs are affected by DPYD in pharmacogenomics?+
fluoropyrimidines: 5-fluorouracil, capecitabine, tegafur — CPIC level A · RNPGx "essential" (DPD deficiency screening)
How many Geno'X publications cover the DPYD gene?+
15 publication(s) on DPYD have been selected, summarised and scored by Geno'X on a public grading grid (domains: Pharmacogenomics).