Varaico: Literature-Extracted Genetic Variants

Gene:DPYD
Variant:p.S201R
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DPYD

NM_000110.4:p.S201R

Associated Papers

Potential clinical relevance of rare dihydropyrimidine dehydrogenase genetic variants identified using whole-exome NextGen sequencing in cancer patients with severe fluoropyrimidine toxicity.

Cui E et al.

Cancer Chemotherapy and Pharmacology, 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

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

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

Integrating rare genetic variants into DPYD pharmacogenetic testing may help preventing fluoropyrimidine-induced toxicity.

Larrue R et al.

The Pharmacogenomics Journal, 2024

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

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

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

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

Memory T cells targeting oncogenic mutations detected in peripheral blood of epithelial cancer patients.

Cafri G et al.

Nature Communications, 2019

30683863 (PubMed )
Supplement: 41467_2019_8304_MOESM3_ESM.xlsx › Sheet1

Evolution of Dihydropyrimidine Dehydrogenase Diagnostic Testing in a Single Center during an 8-Year Period of Time.

Coenen MJH et al.

Current Therapeutic Research, Clinical and Experimental, 2019

Dihydro pyrimidine dehydrogenase deficiency in patients treated with capecitabine based regimens: a tertiary care centre experience.

Sahu A et al.

Journal of Gastrointestinal Oncology, 2016

Pharmacogenomics of fluorouracil -based chemotherapy toxicity.

Matsusaka S et al.

Expert Opinion on Drug Metabolism & Toxicology, 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

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

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

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

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

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

Clinical implications of dihydropyrimidine dehydrogenase (DPD) activity in 5-FU-based chemotherapy: mutations in the DPD gene, and DPD inhibitory fluoropyrimidines.

Omura K

International Journal of Clinical Oncology, 2003

Novel disease-causing mutations in the dihydropyrimidine dehydrogenase gene interpreted by analysis of the three-dimensional protein structure.

van Kuilenburg AB et al.

The Biochemical Journal, 2002

Dihydropyrimidine dehydrogenase (DPD) deficiency: novel mutations in the DPD gene.

van Kuilenburg AB et al.

Advances in Experimental Medicine and Biology, 2000

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

Dihydropyrimidine dehydrogenase mutation in neoadjuvant chemotherapy in head and neck cancers: Myth or reality?

Patil VM et al.

South Asian Journal of Cancer, 0

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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."