Varaico: Literature-Extracted Genetic Variants

Gene:DPYD
Variant:p.A551T
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DPYD

NM_000110.4:p.A551T

Associated Papers

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

Pharmacogenomic-guided dosing of fluoropyrimidines beyond DPYD: time for a polygenic algorithm?

Maslarinou A et al.

Frontiers in Pharmacology, 2023

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

Decoding variants in drug-metabolizing enzymes and transporters in solid tumor patients by whole-exome sequencing.

Aboul-Soud MAM et al.

Saudi Journal of Biological Sciences, 2021

33424349 (PubMed )
Supplement: mmc1.xlsx › Sheet1

Genomic and transcriptomic profiling of carcinogenesis in patients with familial adenomatous polyposis.

Li J et al.

Gut, 2020

31744909 (PubMed )
Supplement: gutjnl-2019-319438supp006.xlsx › _FAP__All_somatic_mutation

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

Application of pharmacogenetics in oncology.

Miteva-Marcheva NN et al.

Biomarker Research, 2020

ToxNav germline genetic testing and PROMinet digital mobile application toxicity monitoring: Results of a prospective single-center clinical utility study-PRECISE study.

Lee LYW et al.

Cancer Medicine, 2019

Targeted next generation sequencing as a tool for precision medicine.

Gulilat M et al.

Bmc Medical Genomics, 2019

31159795 (PubMed )
Supplement: 12920_2019_527_MOESM1_ESM.xlsx › Table_S6

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

Shrestha S et al.

Clinical Pharmacology and Therapeutics, 2018

Comparison of the Guidelines of the Clinical Pharmacogenetics Implementation Consortium and the Dutch Pharmacogenetics Working Group.

Bank PCD et al.

Clinical Pharmacology and Therapeutics, 2018

Genotyping of a family with a novel deleterious DPYD mutation supports the pretherapeutic screening of DPD deficiency with dihydrouracil/uracil ratio.

Thomas F et al.

Clinical Pharmacology and Therapeutics, 2016

A candidate gene study of capecitabine-related toxicity in colorectal cancer identifies new toxicity variants at DPYD and a putative role for ENOSF1 rather than TYMS.

Rosmarin D et al.

Gut, 2015

Dihydropyrimidine dehydrogenase deficiency in two malaysian siblings with abnormal MRI findings.

Chen BC et al.

Molecular Syndromology, 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

Identification of three novel mutations in the dihydropyrimidine dehydrogenase gene associated with altered pre-mRNA splicing or protein function.

Van Kuilenburg AB et al.

Biological Chemistry, 2005

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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."