Varaico: Literature-Extracted Genetic Variants

Gene:DPYD
Variant:p.P1023S
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DPYD

NM_000110.4:p.P1023S

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

Somatic Mutations Alter Interleukin Signaling Pathways in Grade II Invasive Breast Cancer Patients: An Egyptian Experience.

Nassar A et al.

Current Issues in Molecular Biology, 2022

36547062 (PubMed )
Supplement: cimb-44-00401-s001.zip › supplementary_2.xlsx › CCP_ALL_source

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_MOESM4_ESM.xlsx › Novel_Previously_described_var.

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

Hishinuma E et al.

Journal of Clinical Medicine, 2020

Gene-Specific Variant Classifier (DPYD-Varifier) to Identify Deleterious Alleles of Dihydropyrimidine Dehydrogenase.

Shrestha S et al.

Clinical Pharmacology and Therapeutics, 2018

Novel Deleterious Dihydropyrimidine Dehydrogenase Variants May Contribute to 5-Fluorouracil Sensitivity in an East African Population.

Elraiyah T et al.

Clinical Pharmacology and Therapeutics, 2017

De novo mutations in moderate or severe intellectual disability.

Hamdan FF et al.

Plos Genetics, 2014

25356899 (PubMed )
Supplement: pgen.1004772.s004.xlsx › 702.278

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

Analysis of the DPYD gene implicated in 5-fluorouracil catabolism in a cohort of Caucasian individuals.

Seck K et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2005

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

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

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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."