Varaico: Literature-Extracted Genetic Variants

Gene:DPYD
Variant:p.P633delFs
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DPYD

NM_000110.4:p.P633delFs

Associated Papers

DPYD Genotyping, Fluoropyrimidine Dosage and Toxicity: An Umbrella Review of Systematic Reviews.

Otero-Torres S et al.

Pharmaceuticals (basel, Switzerland), 2025

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

Exploring a novel model for newborn genetic screening in Ningxia, northern China: A retrospective observational study.

Mao X et al.

Medicine, 2024

39969324 (PubMed )
Supplement: medi-103-e41064-s001.xlsx › S2

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

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

Letter to the Editor: Variant Coverage and Diagnostic Performance of Commercially Available DPYD Genotyping Tests in Brazil.

Suarez-Kurtz G

Journal of the National Comprehensive Cancer Network : Jnccn, 2024

DPYD genetic polymorphisms in non-European patients with severe fluoropyrimidine-related toxicity: a systematic review.

Chan TH et al.

British Journal of Cancer, 2024

Novel Genetic Variants Explaining Severe Adverse Drug Events after Clinical Implementation of DPYD Genotype-Guided Therapy with Fluoropyrimidines: An Observational Study.

Díaz-Villamarín X et al.

Pharmaceutics, 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

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

Genetic Variations of the DPYD Gene and Its Relationship with Ancestry Proportions in Different Ecuadorian Trihybrid Populations.

Farinango C et al.

Journal of Personalized Medicine, 2022

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.

García-Alfonso P et al.

Clinical & Translational Oncology : Official Publication of the Federation of Spanish Oncology Societies and of the National Cancer Institute of Mexico, 2022

Application of a next-generation sequencing (NGS) panel in newborn screening efficiently identifies inborn disorders of neonates.

Huang X et al.

Orphanet Journal of Rare Diseases, 2022

35193651 (PubMed )
Supplement: 13023_2022_2231_MOESM2_ESM.xlsx › InputVariantsForDesign

Dihydropyrimidine dehydrogenase (DPD) polymorphisms knocking on the door.

Donadio MDS et al.

Ecancermedicalscience, 2022

An Evaluation of the Diagnostic Accuracy of a Panel of Variants in DPYD and a Single Variant in ENOSF1 for Predicting Common Capecitabine Related Toxicities.

Palles C et al.

Cancers, 2021

Actionable pharmacogenetic variants in Hong Kong Chinese exome sequencing data and projected prescription impact in the Hong Kong population.

Yu MHC et al.

Plos Genetics, 2021

33600428 (PubMed )
Supplement: pgen.1009323.s003.xlsx › ___1

Pharmacogenetic profiling of dihydropyrimidine dehydrogenase (DPYD) variants in the Indian population.

Naushad SM et al.

The Journal of Gene Medicine, 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

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

Hishinuma E et al.

Journal of Clinical Medicine, 2020

Dutch Pharmacogenetics Working Group (DPWG) guideline for the gene-drug interaction of DPYD and fluoropyrimidines.

Lunenburg CATC et al.

European Journal of Human Genetics : Ejhg, 2020

Pharmacogenomics Clinical Annotation Tool (PharmCAT).

Sangkuhl K et al.

Clinical Pharmacology and Therapeutics, 2020

31306493 (PubMed )
Supplement: CPT-107-203-s004.pdf

Dihydropyrimidine dehydrogenase in the metabolism of the anticancer drugs.

Sharma V et al.

Cancer Chemotherapy and Pharmacology, 2019

Capecitabine-Induced Severe Toxicity Secondary to DPD Deficiency and Successful Treatment with Low Dose 5-Fluorouracil.

Kodali S et al.

Journal of Gastrointestinal Cancer, 2017

Genotype-phenotype correlations in 5-fluorouracil metabolism: a candidate DPYD haplotype to improve toxicity prediction.

Gentile G et al.

The Pharmacogenomics Journal, 2016

Validation of a fast and low-cost alkaline lysis method for gDNA extraction in a pharmacogenetic context.

Ramos-Díaz R et al.

Cancer Chemotherapy and Pharmacology, 2015

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

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

Genotype frequencies of drug-metabolizing enzymes responsible for purine and pyrimidine antagonists in a healthy Asian-Indian population.

Iyer SN et al.

Biochemical Genetics, 2012

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

Giorgio E et al.

Cancer Chemotherapy and Pharmacology, 2011

Routine dihydropyrimidine dehydrogenase testing for anticipating 5-fluorouracil-related severe toxicities: hype or hope?

Ciccolini J et al.

Clinical Colorectal Cancer, 2010

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

Del Re M et al.

The Epma Journal, 2010

Dihydropyrimidine dehydrogenase deficiency caused by a novel genomic deletion c.505_513del of DPYD.

van Kuilenburg AB et al.

Nucleosides, Nucleotides & Nucleic Acids, 2010

[Genetic polymorphisms related to fluoropyrimidine sensitivity and toxicity].

Terashima M

Gan to Kagaku Ryoho. Cancer & Chemotherapy, 2008

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

SSCP screening of the dihydropyrimidine dehydrogenase gene polymorphisms of the Japanese population using a semi-automated electrophoresis unit.

Okamoto Y et al.

Biochemical Genetics, 2007

Mutational spectrum of dihydropyrimidine dehydrogenase gene (DPYD) in the Tunisian population.

Ben Fredj R et al.

Comptes Rendus Biologies, 2007

Genetic variations and haplotype structures of the DPYD gene encoding dihydropyrimidine dehydrogenase in Japanese and their ethnic differences.

Maekawa K et al.

Journal of Human Genetics, 2007

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

Morel A et al.

Molecular Cancer Therapeutics, 2006

Profiling dihydropyrimidine dehydrogenase deficiency in patients with cancer undergoing 5-fluorouracil/capecitabine therapy.

Mercier C et al.

Clinical Colorectal Cancer, 2006

Genetic determinants of cancer drug efficacy and toxicity: practical considerations and perspectives.

Candelaria M et al.

Anti-cancer Drugs, 2005

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