ArticleCancer chemotherapy and pharmacology2020
New DPYD variants causing DPD deficiency in patients treated with fluoropyrimidine.
Article in Cancer chemotherapy and pharmacology, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.
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Who cites it
10 citing papers in PubMed, 22 citations in OpenAlex.
- Genetic Variants Associated with Fluoropyrimidine-Induced Toxicity in Real-World Patients After Pre-EmptivePharmaceuticals (Basel, Switzerland) · 2026Article
- Potential clinical relevance of rare dihydropyrimidine dehydrogenase genetic variants identified using whole-exome NextGen sequencing in cancer patients with severe fluoropyrimidine toxicity.Cancer chemotherapy and pharmacology · 2025Article
- A novel large intragenic DPYD deletion causing dihydropyrimidine dehydrogenase deficiency: a case report.BMC medical genomics · 2024Article
- Fluoropyrimidine Toxicity: the Hidden Secrets of DPYD.Current drug metabolism · 2024Review
- Clinical Implementation of Rare and NovelInternational journal of biological sciences · 2024Review
- Rare genetic variant burden in DPYD predicts severe fluoropyrimidine-related toxicity risk.Biomedicine & pharmacotherapy = Biomedecine & pharmacotherapie · 2022Article
- Consensus of experts from the Spanish Pharmacogenetics and Pharmacogenomics Society and the Spanish Society of Medical Oncology for the genotyping of DPYD in cancer patients who are candidates for treatment with fluoropyrimidines.Clinical & translational oncology : official publication of the Federation of Spanish Oncology Societies and of the National Cancer Institute of Mexico · 2022Article
- Clinical Relevance of Novel Polymorphisms in the Dihydropyrimidine Dehydrogenase (Pharmaceutics · 2021Article
- Article
- Force Field Parameters for FeMolecules (Basel, Switzerland) · 2021Article
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Authors and funding
11 authors at 4 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeSeveral clinical guidelines recommend genetic screening of DPYD, including coverage of the variants c.1905 + 1G>A(DPYD*2A), c.1679T>G(DPYD*13), c.2846A>T, and c.1129-5923C>G, before initiating treatment with fluoropyrimidines. However, this screening is often inadequate at predicting the occurrence of severe fluoropyrimidine-induced toxicity in patients.
methodsUsing a complementary approach combining whole DPYD exome sequencing and in silico and structural analysis, as well as phenotyping of DPD by measuring uracilemia (U), dihydrouracilemia (UH
resultsTwenty-five out of 28 patients (90%) had at least 1 variant in the DPYD coding sequence, and 42% of the variants (6/14) were classified as potentially deleterious by at least 2 of the following algorithms: SIFT, Poly-Phen-2, and DPYD varifier. We identified two very rare deleterious mutations, namely, c.2087G>A (p.R696H) and c.2324T>G (p.L775W). We were able to demonstrate partial DPD deficiency, as measured by the UH
conclusionWhole exon sequencing of DPYD in patients with suspicion of partial DPD deficiency can help to identify rare or new variants that lead to enzyme inactivation. Combining different techniques can yield abundant information without increasing workload and cost burden, thus making it a useful approach for implementation in patient care.
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