Human Dihydropyrimidine Dehydrogenase ELISA , DPYD
- Known as:
- Human Dihydropyrimidine Dehydrogenase Enzyme-linked immunosorbent assay test , DPYD
- Catalog number:
- E01D0256
- Product Quantity:
- 96 Tests/kit
- Category:
- -
- Supplier:
- BGene
- Gene target:
- Human Dihydropyrimidine Dehydrogenase ELISA DPYD
Related genes to: Human Dihydropyrimidine Dehydrogenase ELISA , DPYD
- Gene:
- DPYD NIH gene
- Name:
- dihydropyrimidine dehydrogenase
- Previous symbol:
- -
- Synonyms:
- DPD
- Chromosome:
- 1p21.3
- Locus Type:
- gene with protein product
- Date approved:
- 1994-07-07
- Date modifiied:
- 2019-04-23
Related products to: Human Dihydropyrimidine Dehydrogenase ELISA , DPYD
Related articles to: Human Dihydropyrimidine Dehydrogenase ELISA , DPYD
- Pre-emptive genotyping and genotype-guided dose adjustments are generally recommended for seven hypofunctional polymorphisms in the DPYD gene that are associated with fluoropyrimidine toxicity. However, targeted genotyping may miss uncommon and population-specific hypofunctional variants. Therefore, in 2021, we replaced conventional targeted genotyping with comprehensive DPYD exome sequencing. The objective of the current study was to identify uncommon hypofunctional variants and assess their association with fluoropyrimidine toxicity. In a cohort of 762 consecutive patients pre-emptively genotyped between 2021 and 2025, among the seven established risk variants, we identified *2A and HapB3 at their expected minor allele frequencies (MAF), but no carriers of any of the five other established risk variants. Interestingly, four patients were heterozygous for the rare missense c.257C>T variant (Pro86Leu; rs568132506), previously associated with fluoropyrimidine toxicity. The MAF (2.62 × 10-3) was similar to that previously described in Middle Eastern populations but 26-fold higher than in the gnomAD global population. Three of the carriers (75%) developed grade 3-4 fluoropyrimidine toxicity after one or two cycles, corresponding to a relative risk of 14.5 (95% confidence interval: 5.0-30.4, P = 0.0009) compared with a control cohort without hypofunctional DPYD variants. Our findings add to the growing body of evidence indicating that DPYD c.257C>T may be associated with severe fluoropyrimidine toxicity. Future studies should examine the clinical utility of including uncommon but potentially actionable variants, such as c.257C>T, into pre-emptive genotyping algorithms. This may be particularly important in multiethnic populations in which these variants can be more prevalent than those variants for which pre-emptive genotyping is generally recommended. - Source: PubMed
Publication date: 2026/08/04
Carp Marie-JeanneRing GilWaldhorn IthaiShempliner AlexandraSchantzer TaliaMor NoaRyvo LarisaKurnik DanielEfrati Edna - Fluoropyrimidines are widely used in the treatment of multiple neoplasms, but their use is limited by the risk of severe toxicity in patients with dihydropyrimidine dehydrogenase (DPD) deficiency. Current clinical guidelines recommend genotyping as pre-treatment screening for a limited number of common variants; however, this approach fails to identify all patients at risk. - Source: PubMed
Publication date: 2026/08/04
Delcuratolo Marco DonatelloRodriquenz Maria GraziaMorelli FrancoLatiano Tiziana PiaMuscarella Lucia AnnaCaporilli SimonaPasqualini LorenzaDe Santis ElisabettaGiambra VincenzoRinaldi AntonioCiavarella GraziaFloris MatteoMurru RobertaMascia AlessiaDe Mattia ElenaCanil GiovanniFania GiuseppePop AnaCarella Massimovan Kuilenburg AndréCecchin ErikaMiscio Giuseppe - Treatment with immune checkpoint inhibitors (ICIs) has radically improved outcomes for patients with microsatellite instability-high (MSI-H) metastatic colorectal cancer (mCRC). Intrinsic and acquired resistance, however, remains an important concern. Pyrimidine pathway regulates the innate immune response and may offer an opportunity to enhance ICI efficacy via modulation of pyrimidine metabolism. Identification of primary, adaptive and acquired resistance mechanisms and development of actionable strategies to overcome resistance and expand the benefit of ICI is paramount. Our group is the first to show that the dihydropyrimidine dehydrogenase (DPD; gene ) metabolic pathway predicts the efficacy of ICI in MSI-H tumors. - Source: PubMed
Publication date: 2026/08/17
Soni ShivaniBattaglin FrancescaCastanon SofiYang YanSmbatyan GoarTorres Gonzalez LeslyHo Lo JaeMittal PoojaGonzalez EdgarBaugh Aaron GSoto Trujillo SteveAshouri KaramAlgaze SandraJayachandran PriyaZhang WuK Singh IndrakantCerma KrisidaBergamo FrancescaLonardi SaraZhang YongKay Steve AYu JianZhang LinMillstein JoshuaT Roussos Torres EvanthiaLenz Heinz-Josef - Fluoropyrimidines are widely used for the treatment of solid tumours, but they carry a significant risk of severe toxicity in patients with dihydropyrimidine dehydrogenase (DPD) deficiency. - Source: PubMed
Publication date: 2026/08/13
Salvador-Martín SaraTaladríz-Sender IreneZapata-Cobo PaulaHernández-Osio GinaSoto-Alsar JavierRevuelta-Herrero José LuisGarcía-Alfonso PilarThomas FabienneSanjurjo-Sáez MaríaLópez-Fernández Luis AGarcía-González Xandra - Cardio-oncology patients may face complex treatment regimens due to the concurrent existence of cancer and cardiovascular disease, leading to a considerable polypharmacy burden. This significantly increases the prospect of drug-drug interactions (DDIs) and gene-drug interactions. The majority of these interactions arise from comparable pharmacokinetic and pharmacological pathways associated with drug transporters and cytochrome P450 enzymes. The significance of pharmacogenomics in tailored treatment strategies are emphasised by the fact that genetic variability enhances individual differences in drug response, safety, and efficacy. This narrative review focus on the effects of key genetic polymorphisms (e.g., DPYD, CYP2C19, and CYP2C9) on the metabolism and efficacy of commonly prescribed anticancer and cardiovascular medications such as fluoropyrimidines, clopidogrel, and warfarin. In addition it explore the role of pharmacogenomic variants on drug-drug interactions within the field of cardio-oncology. The study ultimately emphasizes the necessity of precision medicine in India to address the genetic diversity and underrepresentation in global genomic databases. The absence of pharmacogenomic testing, infrastructural deficiencies, financial constraints, and insufficient clinical integration hinder the widespread use of this technology in India. The Genome India Project and other national initiatives establish the foundation for pharmacogenomic-guided therapy. Utilizing genetic data, together with artificial intelligence-based predictive tools, for clinical decision-making may enhance medication safety and yield optimal outcomes in Indian cardio-oncology patients. - Source: PubMed
Publication date: 2026/08/12
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