Varaico: Literature-Extracted Genetic Variants

Gene:DPYD
Variant:p.R21*
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DPYD

NM_000110.4:p.R21*

Associated Papers

Prevalence and clinical relavance of germline mutations in Chinese patients with pancreatic cancer.

Jiang Y et al.

Cell Communication and Signaling : Ccs, 2025

40544258 (PubMed )
Supplement: 12964_2025_2281_MOESM1_ESM.xlsx › RJ.P_LP.germline.final

Clinical impact of pharmacogenomics in pediatric care: insights extracted from clinical exome sequencing.

Maggo S et al.

Frontiers in Genetics, 2025

40510810 (PubMed )
Supplement: Table3.xlsx › Table_S1

Pharmacogenetic DPYD allele variant frequencies: A comprehensive analysis across an ancestrally diverse Iranian population.

Sarhangi N et al.

Daru : Journal of Faculty of Pharmacy, Tehran University of Medical Sciences, 2024

Pharmacogenetic analysis of structural variation in the 1000 genomes project using whole genome sequences.

Sherman CA et al.

Scientific Reports, 2024

DPYD Genotyping Recommendations: A Joint Consensus Recommendation of the Association for Molecular Pathology, American College of Medical Genetics and Genomics, Clinical Pharmacogenetics Implementation Consortium, College of American Pathologists, Dutch Pharmacogenetics Working Group of the Royal Dutch Pharmacists Association, European Society for Pharmacogenomics and Personalized Therapy, Pharmacogenomics Knowledgebase, and Pharmacogene Variation Consortium.

Pratt VM et al.

The Journal of Molecular Diagnostics : Jmd, 2024

Characterization of Reference Materials for DPYD: A GeT-RM Collaborative Project.

Gaedigk A et al.

The Journal of Molecular Diagnostics : Jmd, 2024

Contradiction in Star-Allele Nomenclature of Pharmacogenes between Common Haplotypes and Rare Variants.

Ahn SH et al.

Genes, 2024

38674455 (PubMed )
Supplement: genes-15-00521-s001.zip › Supplementary_Table.xls › Table_S1

Updated DPYD HapB3 haplotype structure and implications for pharmacogenomic testing.

Turner AJ et al.

Clinical and Translational Science, 2024

38129972 (PubMed )
Supplement: CTS-17-e13699-s001.xlsx › SNPs_genotyped_on_pScan

Clinical Implementation of Rare and Novel DPYD Variants for Personalizing Fluoropyrimidine Treatment: Challenges and Opportunities.

De Mattia E et al.

International Journal of Biological Sciences, 2024

Effect of donor GSTM3 rs7483 genetic variant on tacrolimus elimination in the early period after liver transplantation.

Zhang T et al.

Peerj, 2024

39465171 (PubMed )
Supplement: peerj-12-18360-s002.7z › drug-metabolizing_enzymes_and_transporter__DMET__microarray › markerlist.xlsx › markerlist.TXT

Response to the FDA Decision Regarding DPYD Testing Prior to Fluoropyrimidine Chemotherapy.

Hertz DL et al.

Clinical Pharmacology and Therapeutics, 2023

PAnno: A pharmacogenomics annotation tool for clinical genomic testing.

Liu Y et al.

Frontiers in Pharmacology, 2023

36778023 (PubMed )
Supplement: Table3.XLSX › GeT-RM_vs._PAnno

Pharmacogenetic Study of the Dihydropyridine Dehydrogenase Gene in Jordanian Patients with Colorectal Cancer.

Almashagbah NA et al.

Asian Pacific Journal of Cancer Prevention : Apjcp, 2022

Comprehensive analysis of recessive carrier status using exome and genome sequencing data in 1543 Southern Chinese.

Chau JFT et al.

Npj Genomic Medicine, 2022

35314707 (PubMed )
Supplement: 41525_2022_287_MOESM3_ESM.xlsx › SNV

Clinical pharmacogenetic analysis in 5,001 individuals with diagnostic Exome Sequencing data.

Lanillos J et al.

Npj Genomic Medicine, 2022

35181665 (PubMed )
Supplement: 41525_2022_283_MOESM2_ESM.xlsx › Alleles

Comprehensive analysis of important pharmacogenes in Koreans using the DMET™ platform.

Kim B et al.

Translational and Clinical Pharmacology, 2021

Potential Impact of DPYD Variation on Fluoropyrimidine Drug Response in sub-Saharan African Populations.

da Rocha JEB et al.

Frontiers in Genetics, 2021

33767731 (PubMed )
Supplement: Data_Sheet_1.PDF

Population-scale predictions of DPD and TPMT phenotypes using a quantitative pharmacogene-specific ensemble classifier.

Zhou Y et al.

British Journal of Cancer, 2020

32973300 (PubMed )
Supplement: 41416_2020_1084_MOESM1_ESM.xlsx › Sheet1

The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.

Cao Y et al.

Cell Research, 2020

32355288 (PubMed )
Supplement: 41422_2020_322_MOESM14_ESM.xlsx › S7

In Vitro Assessment of Fluoropyrimidine-Metabolizing Enzymes: Dihydropyrimidine Dehydrogenase, Dihydropyrimidinase, and β-Ureidopropionase.

Hishinuma E et al.

Journal of Clinical Medicine, 2020

Added Value of Clinical Sequencing: WGS-Based Profiling of Pharmacogenes.

Caspar SM et al.

International Journal of Molecular Sciences, 2020

32225115 (PubMed )
Supplement: ijms-21-02308-s001.zip › Caspar_et_al_Supplementary_Table_S1.xlsx › gnomAD_Exomes_LOF

Dihydropyrimidine dehydrogenase in the metabolism of the anticancer drugs.

Sharma V et al.

Cancer Chemotherapy and Pharmacology, 2019

Genotyping of a family with a novel deleterious DPYD mutation supports the pretherapeutic screening of DPD deficiency with dihydrouracil/uracil ratio.

Thomas F et al.

Clinical Pharmacology and Therapeutics, 2016

Characterization of 137 Genomic DNA Reference Materials for 28 Pharmacogenetic Genes: A GeT-RM Collaborative Project.

Pratt VM et al.

The Journal of Molecular Diagnostics : Jmd, 2016

Discovery of novel mutations in the dihydropyrimidine dehydrogenase gene associated with toxicity of fluoropyrimidines and viewpoint on preemptive pharmacogenetic screening in patients.

Del Re M et al.

The Epma Journal, 2015

Comparative functional analysis of DPYD variants of potential clinical relevance to dihydropyrimidine dehydrogenase activity.

Offer SM et al.

Cancer Research, 2014

Genetic markers of toxicity from capecitabine and other fluorouracil-based regimens: investigation in the QUASAR2 study, systematic review, and meta-analysis.

Rosmarin D et al.

Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology, 2014

Potentially functional SNPs (pfSNPs) as novel genomic predictors of 5-FU response in metastatic colorectal cancer patients.

Wang J et al.

Plos One, 2014

25372392 (PubMed )
Supplement: pone.0111694.s006.pdf

Severe fluoropyrimidine-related toxicity: clinical implications of DPYD analysis and UH2/U ratio evaluation.

Giorgio E et al.

Cancer Chemotherapy and Pharmacology, 2011

Dihydropyrimidine dehydrogenase polymorphisms and fluoropyrimidine toxicity: ready for routine clinical application within personalized medicine?

Del Re M et al.

The Epma Journal, 2010

Analysis of the DPYD gene implicated in 5-fluorouracil catabolism in Chinese cancer patients.

He YF et al.

Journal of Clinical Pharmacy and Therapeutics, 2008

Identification of a novel mutation in the dihydropyrimidine dehydrogenase gene in a patient with a lethal outcome following 5-fluorouracil administration and the determination of its frequency in a population of 500 patients with colorectal carcinoma.

Morel A et al.

Clinical Biochemistry, 2007

Clinical relevance of different dihydropyrimidine dehydrogenase gene single nucleotide polymorphisms on 5-fluorouracil tolerance.

Morel A et al.

Molecular Cancer Therapeutics, 2006

Genetic polymorphisms of drug-metabolising enzymes and drug transporters in the chemotherapeutic treatment of cancer.

Bosch TM et al.

Clinical Pharmacokinetics, 2006

Multiple organ failure due to 5-fluorouracil chemotherapy in a patient with a rare dihydropyrimidine dehydrogenase gene variant.

Lazar A et al.

Onkologie, 2004

Pyrimidine degradation defects and severe 5-fluorouracil toxicity.

van Kuilenburg AB et al.

Nucleosides, Nucleotides & Nucleic Acids, 2004

Dihydropyrimidine dehydrogenase and the efficacy and toxicity of 5-fluorouracil.

van Kuilenburg AB

European Journal of Cancer (oxford, England : 1990), 2004

Lethal 5-fluorouracil toxicity associated with a novel mutation in the dihydropyrimidine dehydrogenase gene.

van Kuilenburg AB et al.

Annals of Oncology : Official Journal of the European Society for Medical Oncology, 2003

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