Varaico: Literature-Extracted Genetic Variants

Gene:DPYD
Variant:p.R886H
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DPYD

NM_000110.4:p.R886H

Associated Papers

The pharmacogenomic landscape in the Chinese: An analytics of pharmacogenetic variants in 206,640 individuals.

Wang LY et al.

Innovation (cambridge (mass.)), 2025

39991480 (PubMed )
Supplement: mmc6.xlsx › Sheet1

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

Sherman CA et al.

Scientific Reports, 2024

39354004 (PubMed )
Supplement: 41598_2024_73748_MOESM8_ESM.xlsx › Sheet1

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

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

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

Importance of Rare DPYD Genetic Polymorphisms for 5-Fluorouracil Therapy in the Japanese Population.

Hishinuma E et al.

Frontiers in Pharmacology, 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

33805100 (PubMed )
Supplement: cancers-13-01497-s001.pdf

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

A comprehensive population-based study comparing the phenotype and genotype in a pretherapeutic screen of dihydropyrimidine dehydrogenase deficiency.

Pallet N et al.

British Journal of Cancer, 2020

32595208 (PubMed )
Supplement: 41416_2020_962_MOESM1_ESM.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

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

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

Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.

Wright CF et al.

American Journal of Human Genetics, 2019

30665703 (PubMed )
Supplement: mmc3.xlsx › data_for_supp2

Visualization of tumor heterogeneity by in situ padlock probe technology in colorectal cancer.

El-Heliebi A et al.

Histochemistry and Cell Biology, 2017

28321501 (PubMed )
Supplement: 418_2017_1557_MOESM4_ESM.xlsx › Tabelle1

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

Prevention of 5-fluorouracil-induced early severe toxicity by pre-therapeutic dihydropyrimidine dehydrogenase deficiency screening: Assessment of a multiparametric approach.

Boisdron-Celle M et al.

Seminars in Oncology, 2017

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

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

A DPYD variant (Y186C) in individuals of african ancestry is associated with reduced DPD enzyme activity.

Offer SM et al.

Clinical Pharmacology and Therapeutics, 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

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

Ciccolini J et al.

Clinical Colorectal Cancer, 2010

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

5-Fluorouracil-related severe toxicity: a comparison of different methods for the pretherapeutic detection of dihydropyrimidine dehydrogenase deficiency.

Boisdron-Celle M et al.

Cancer Letters, 2007

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

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

Mercier C et al.

Clinical Colorectal Cancer, 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 deficiency: impact of pharmacogenetics on 5-fluorouracil therapy.

Lee A et al.

Clinical Advances in Hematology & Oncology : H&o, 2004

Detailed analysis of five mutations in dihydropyrimidine dehydrogenase detected in cancer patients with 5-fluorouracil-related side effects.

Gross E et al.

Human Mutation, 2003

Denaturing high performance liquid chromatography analysis of the DPYD gene in patients with lethal 5-fluorouracil toxicity.

Ezzeldin H et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2003

5-fluorouracil and dihydropyrimidine dehydrogenase.

Kubota T

International Journal of Clinical Oncology, 2003

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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."