ArticleThe pharmacogenomics journal2024
Integrating rare genetic variants into DPYD pharmacogenetic testing may help preventing fluoropyrimidine-induced toxicity.
Article in The pharmacogenomics journal, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 17 papers, 1 of them a synthesis that pooled it.
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Who cites it
17 citing papers in PubMed, 1 synthesis or guideline pooled it, 23 citations in OpenAlex.
- Model-based meta-analysis of individual patient data for the characterization of intravenous 5-fluorouracil population pharmacokinetics.Cancer chemotherapy and pharmacology · 2026Pooled it
- Trial
- A thymine-challenge test to prospectively evaluate dihydropyrimidine dehydrogenase activity for risk of severe 5-fluorouracil-induced gastrointestinal toxicity.Cancer chemotherapy and pharmacology · 2025Trial
- Characterization of DPYD pharmacogenetic variation in Mexican patients with gastrointestinal malignancies.Cancer chemotherapy and pharmacology · 2026Article
- Allelic Variants of theGenes · 2026Observational
- The evolving landscape of pharmacogenomics: Current achievements and future directions.Pharmacological reviews · 2026Review
- Identification of a largeFrontiers in pharmacology · 2026Article
- Prevalence of actionable pharmacogenomic variants in Brazilian patients with cancer.Frontiers in pharmacology · 2026Article
- Real-world study on fluoropyrimidine-related toxicity outcomes in cancer patients with select DPYD variant alleles that received DPYD genotype-guided dosing.International journal of cancer · 2025Article
- Opportunities and Challenges of Population Pharmacogenomics.Annals of human genetics · 2025Review
- Precision Treatment of Patients With GI Cancer Using Pre-emptiveJCO precision oncology · 2025Article
- Pharmacogenetic Profiling of Genes Associated with Outcomes of Chemotherapy in Omani Healthy Controls.Genes · 2025Article
- DPYD genotype should be extended to rare variants: report on two cases of phenotype / genotype discrepancy.Cancer chemotherapy and pharmacology · 2025Article
- Unveiling the heritability of selected unexplored pharmacogenetic markers in the Saudi population.Frontiers in pharmacology · 2025Article
- Clinical impact of DPYD genotyping and dose adjustment in candidates for fluoropyrimidine treatment.Heliyon · 2024Article
- Strategies for DPYD testing prior to fluoropyrimidine chemotherapy in the US.Supportive care in cancer : official journal of the Multinational Association of Supportive Care in Cancer · 2024Article
- Case report: A case of severe capecitabine toxicity due to confirmed in trans compound heterozygosity of a common and rare DPYD variant.Frontiers in pharmacology · 2024Article
Corrections and comments
- Erratum issued
Authors and funding
12 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Variability in genes involved in drug pharmacokinetics or drug response can be responsible for suboptimal treatment efficacy or predispose to adverse drug reactions. In addition to common genetic variations, large-scale sequencing studies have uncovered multiple rare genetic variants predicted to cause functional alterations in genes encoding proteins implicated in drug metabolism, transport and response. To understand the functional importance of rare genetic variants in DPYD, a pharmacogene whose alterations can cause severe toxicity in patients exposed to fluoropyrimidine-based regimens, massively parallel sequencing of the exonic regions and flanking splice junctions of the DPYD gene was performed in a series of nearly 3000 patients categorized according to pre-emptive DPD enzyme activity using the dihydrouracil/uracil ([UH
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the Socratic graph.