Varaico: Literature-Extracted Genetic Variants

Gene:DPYD
Variant:p.V335L
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DPYD

NM_000110.4:p.V335L

Associated Papers

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

Chan TH et al.

British Journal of Cancer, 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

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

Poor association between dihydropyrimidine dehydrogenase (DPYD) genotype and fluoropyrimidine-induced toxicity in an Asian population.

Kanai M et al.

Cancer Medicine, 2023

Energy decomposition and waterswapping analysis to investigate the SNP associated DPD mediated 5-FU resistance.

Verma H et al.

Sar and Qsar in Environmental Research, 2023

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

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

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

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

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

Giorgio E et al.

Cancer Chemotherapy and Pharmacology, 2011

[Genetic polymorphisms related to fluoropyrimidine sensitivity and toxicity].

Terashima M

Gan to Kagaku Ryoho. Cancer & Chemotherapy, 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

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

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

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

Dihydropyrimidine dehydrogenase deficiency: impact of pharmacogenetics on 5-fluorouracil therapy.

Lee A et al.

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

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

van Kuilenburg AB

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

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

Pharmacogenetic and clinical aspects of dihydropyrimidine dehydrogenase deficiency.

van Kuilenburg AB et al.

Annals of Clinical Biochemistry, 2003

High prevalence of the IVS14 + 1G>A mutation in the dihydropyrimidine dehydrogenase gene of patients with severe 5-fluorouracil-associated toxicity.

Van Kuilenburg AB et al.

Pharmacogenetics, 2002

A comparative analysis of translated dihydropyrimidine dehydrogenase cDNA; conservation of functional domains and relevance to genetic polymorphisms.

Mattison LK et al.

Pharmacogenetics, 2002

Crystal structure of dihydropyrimidine dehydrogenase, a major determinant of the pharmacokinetics of the anti-cancer drug 5-fluorouracil.

Dobritzsch D et al.

The Embo Journal, 2001

Life-threatening toxicity in a dihydropyrimidine dehydrogenase-deficient patient after treatment with topical 5-fluorouracil.

Johnson MR et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 1999

Identification of novel mutations in the dihydropyrimidine dehydrogenase gene in a Japanese patient with 5-fluorouracil toxicity.

Kouwaki M et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 1998

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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."