Varaico: Literature-Extracted Genetic Variants

Gene:DPYD
Variant:p.R235W
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DPYD

NM_000110.4:p.R235W

Associated Papers

Implementation of DPYD and UGT1A1 Testing in Patients With GI Cancer: A Prospective, Nonrandomized Clinical Trial.

Tuteja S et al.

Jco Precision Oncology, 2025

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

Otero-Torres S et al.

Pharmaceuticals (basel, Switzerland), 2025

A Guide for Implementing DPYD Genotyping for Systemic Fluoropyrimidines into Clinical Practice.

Ho TT et al.

Clinical Pharmacology and Therapeutics, 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

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

APF2: an improved ensemble method for pharmacogenomic variant effect prediction.

Zhou Y et al.

The Pharmacogenomics Journal, 2024

38802404 (PubMed )
Supplement: 41397_2024_338_MOESM1_ESM.xlsx › Sheet1

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

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

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

Identification of pharmacogenetic variants from large scale next generation sequencing data in the Saudi population.

Goljan E et al.

Plos One, 2022

Implementing Pharmacogenetic Testing in Gastrointestinal Cancers (IMPACT-GI): Study Protocol for a Pragmatic Implementation Trial for Establishing DPYD and UGT1A1 Screening to Guide Chemotherapy Dosing.

Varughese LA et al.

Frontiers in Oncology, 2022

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

Kim B et al.

Translational and Clinical Pharmacology, 2021

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

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

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

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

Pharmacogenomics Clinical Annotation Tool (PharmCAT).

Sangkuhl K et al.

Clinical Pharmacology and Therapeutics, 2020

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

Severe Capecitabine Toxicity Associated With a Rare DPYD Variant Identified Through Whole-Genome Sequencing.

Ly RC et al.

Jco Precision Oncology, 2020

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

Characterization of ADME gene variation in 21 populations by exome sequencing.

Hovelson DH et al.

Pharmacogenetics and Genomics, 2017

27984508 (PubMed )
Supplement: fpc-27-089-s004.xlsx › CorePharmADME.VariantDepthStats

Molecular Characterization of Somatic Alterations in Dukes' B and C Colorectal Cancers by Targeted Sequencing.

Abdul SN et al.

Frontiers in Pharmacology, 2017

28769798 (PubMed )
Supplement: Table_1.XLSX › Supp.Table_5

ABCC2-24C > T polymorphism is associated with the response to platinum/5-Fu-based neoadjuvant chemotherapy and better clinical outcomes in advanced gastric cancer patients.

Li Z et al.

Oncotarget, 2016

27487151 (PubMed )
Supplement: oncotarget-07-55449-s001.pdf

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

Gentile G et al.

The Pharmacogenomics Journal, 2016

DPYD Genotyping to Predict Adverse Events Following Treatment With Fluorouracil-Based Adjuvant Chemotherapy in Patients With Stage III Colon Cancer: A Secondary Analysis of the PETACC-8 Randomized Clinical Trial.

Boige V et al.

Jama Oncology, 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

DPYD variants as predictors of 5-fluorouracil toxicity in adjuvant colon cancer treatment (NCCTG N0147).

Lee AM et al.

Journal of the National Cancer Institute, 2014

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

Pharmacogenetic variants in the DPYD, TYMS, CDA and MTHFR genes are clinically significant predictors of fluoropyrimidine toxicity.

Loganayagam A et al.

British Journal of Cancer, 2013

Phenotypic profiling of DPYD variations relevant to 5-fluorouracil sensitivity using real-time cellular analysis and in vitro measurement of enzyme activity.

Offer SM et al.

Cancer Research, 2013

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

Giorgio E et al.

Cancer Chemotherapy and Pharmacology, 2011

A mild phenotype of dihydropyrimidine dehydrogenase deficiency and developmental retardation associated with a missense mutation affecting cofactor binding.

Weidensee S et al.

Clinical Biochemistry, 2011

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."