Varaico: Literature-Extracted Genetic Variants

Gene:DPYD
Variant:p.E412E
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DPYD

NM_000110.4:p.E412E

Associated Papers

Uptake of DPYD and UGT1A1 testing in Italy and adherence to pharmacogenetic guidelines: A 5-year perspective from an EQA provider.

Roncato R et al.

British Journal of Clinical Pharmacology, 2026

Do Socio-Economic Determinants Influence DPYD Testing? A Real-World Study of 1478 Cancer Patients Receiving Fluoropyrimidine Chemotherapy.

Baraka B et al.

Medical Sciences (basel, Switzerland), 2026

Optimizing fluoropyrimidine therapy: Real-world impact of DPYD genotype-based dosing on severe toxicity rates.

van Kan AHE et al.

British Journal of Clinical Pharmacology, 2026

Clinical Implementation of Pharmacogenomics and Drug-Drug Interaction Screening in a German Academic Teaching Hospital and Outpatient Follow-Up.

Tremmel R et al.

Clinical Pharmacology and Therapeutics, 2026

41074844 (PubMed )
Supplement: CPT-119-241-s002.pdf

Development of a comprehensive cardiovascular disease genetic risk assessment test.

Amendola LM et al.

Genetics in Medicine Open, 2026

A predictive model for life-threatening fluoropyrimidine toxicity based on DPYD sequencing in colorectal cancer.

Boige V et al.

Journal of the National Cancer Institute, 2025

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 implementation and outcome evaluation of dihydropyrimidine dehydrogenase (DPYD) pharmacogenomic testing for fluoropyrimidine dosing in a Canadian Provincial Healthcare center.

Wu F et al.

Clinical Biochemistry, 2025

Severe toxicity following genotype-guided reduced 5-FU dose in a heterozygous DPYD c.2846A>T carrier with stage III anal carcinoma: A case report.

Norris ML et al.

Cancer Chemotherapy and Pharmacology, 2025

Real-world study on fluoropyrimidine-related toxicity outcomes in cancer patients with select DPYD variant alleles that received DPYD genotype-guided dosing.

Peeters SLJ et al.

International Journal of Cancer, 2025

Integration of germline pharmacogenomic burden to predict fluoropyrimidine-related toxicity - A secondary analysis of the PREPARE trial.

De Mattia E et al.

Oncogene, 2025

Association between miRNA expression profiles and polymorphisms of dihydropyrimidine dehydrogenase drug-metabolizing gene in patients with colorectal cancer receiving 5-fluorouracil.

Phannasil P et al.

Biomedical Reports, 2025

Risk vs Prevalence: Weighing Routine DPYD Variant Testing Prior to Fluoropyrimidine-Based Chemotherapy.

Larkey NE et al.

Clinical Chemistry, 2025

Opportunities and Challenges of Population Pharmacogenomics.

Zhou Y et al.

Annals of Human Genetics, 2025

Suspected capecitabine-induced fatal toxicity in the context of a new DPYD variant.

Thet PN et al.

Bmj Case Reports, 2025

A Lack of Complete Linkage Disequilibrium Between c.1236G>A and c.1129-5923C>G HapB3 Variants of DPYD: A Call to Revise European Pharmacogenetic Guidelines.

Gil-Rodriguez A et al.

International Journal of Molecular Sciences, 2025

Implementing Pre-Emptive Pharmacogenetics: Impact of Early Pharmacogenetic Screening in a Pediatric Oncology Cohort of 1,151 Subjects.

Bernsen EC et al.

Clinical Pharmacology and Therapeutics, 2025

40331624 (PubMed )
Supplement: CPT-118-438-s003.xlsx › no_results_phenotypes_manuscrip

Unrecognized mutations in DPYD* 2 A wild-type rectal cancer patients receiving postoperative 5-FU-based chemotherapy - do they have a clinical impact?

Liersch P et al.

Cancer Chemotherapy and Pharmacology, 2025

Feasibility and population exposure of 5-fluorouracil using therapeutic drug monitoring (PREDICT-5FU): A multicentre clinical trial.

Glewis S et al.

British Journal of Clinical Pharmacology, 2025

The Path to Clinical Implementation of <italic>DPYD</italic> Pharmacogenetic Testing: Long-Term Experience from an External Quality Assessment Provider and a University Testing Center.

Hedtke M et al.

Oncology Research and Treatment, 2025

Dose-individualisation of fluoropyrimidines based on pre-treatment serum uracil levels: the Alpe2U study.

Knikman JE et al.

European Journal of Cancer (oxford, England : 1990), 2025

Clinical Pharmacogenetics: Results After Implementation of Preemptive Tests in Daily Routine.

Díaz-Villamarín X et al.

Journal of Personalized Medicine, 2025

Impact of Upfront DPYD Genotyping on Fluoropyrimidine Adjuvant Therapy in Colorectal Cancer: A Real-World Data.

Saarenheimo J et al.

Clinical Colorectal Cancer, 2025

Precision Treatment of Patients With GI Cancer Using Pre-emptive DPYD Genotyping/Phenotyping Plus Pharmacokinetic-Guided Dosing of 5-Fluorouracil.

Fiebrich-Westra HB et al.

Jco Precision Oncology, 2025

DPYD Genotyping, Fluoropyrimidine Dosage and Toxicity: An Umbrella Review of Systematic Reviews.

Otero-Torres S et al.

Pharmaceuticals (basel, Switzerland), 2025

A Guide for Implementing DPYD Genotyping for Systemic Fluoropyrimidines into Clinical Practice.

Ho TT et al.

Clinical Pharmacology and Therapeutics, 2025

Implementing DPYD genotyping to predict chemotherapy toxicity in Australia: a feasibility study.

White C et al.

Internal Medicine Journal, 2025

Development of an Ancestrally Inclusive Preemptive Pharmacogenetic Testing Panel.

Lteif C et al.

Clinical and Translational Science, 2025

Application of dihydropyrimidine dehydrogenase deficiency testing for the prevention of fluoropyrimidine toxicity: a real-world experience in a Southern Italy cancer center.

Bianchino G et al.

Journal of Chemotherapy (florence, Italy), 2025

Differences in DPYD Population Frequencies Observed in Galicians Compared to Europeans and Spanish from PhotoDPYD Study.

Gil-Rodriguez A et al.

Pharmaceuticals (basel, Switzerland), 2025

Pharmacogenetic Testing in Admixed Populations: Frequency of the Association for Molecular Pathology Pharmacogenomics Working Group Tier 1 Variant Alleles in Brazilians.

Suarez-Kurtz G

The Journal of Molecular Diagnostics : Jmd, 2025

Adjuvant treatment with Capecitabine in patients who received orthotopic liver transplantation with incidental diagnosis of intrahepatic cholangiocarcinoma. Implications on DPYD polymorphisms assessment: report of two cases and review of the literature.

Liguori C et al.

Cancer Chemotherapy and Pharmacology, 2025

Pharmacogenomics in Solid Tumors: A Comprehensive Review of Genetic Variability and Its Clinical Implications.

Sánchez-Bayona R et al.

Cancers, 2025

Genetic and Functional Characterization of DPYD Exon 4 Deletion Common in the Finnish Population.

Kiiski JI et al.

Basic & Clinical Pharmacology & Toxicology, 2025

Large-Scale Pharmacogenomics Analysis of Patients With Cancer Within the 100,000 Genomes Project Combining Whole-Genome Sequencing and Medical Records to Inform Clinical Practice.

Leong IUS et al.

Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology, 2025

Thymine as potential biomarker to predict 5-FU systemic exposure in patients with gastro-intestinal cancer: a prospective pharmacokinetic study (FUUT-trial).

Hanrath MA et al.

Cancer Chemotherapy and Pharmacology, 2025

Pharmacogenomics: DPYD and Prevention of Toxicity.

Keen J et al.

Clinical Oncology (royal College of Radiologists (great Britain)), 2025

Dihydropyrimidine dehydrogenase polymorphisms in patients with gastrointestinal malignancies and their impact on fluoropyrimidine tolerability: Experience from a single Italian institution.

D'Amato M et al.

World Journal of Gastrointestinal Oncology, 2025

Value of Pharmacogenetic Testing Assessed with Real-World Drug Utilization and Genotype Data.

Litonius K et al.

Clinical Pharmacology and Therapeutics, 2025

39365028 (PubMed )
Supplement: CPT-117-278-s001.pdf

Comprehensive pharmacogenomics profiling of the Serbian population.

Jelovac M et al.

Frontiers in Pharmacology, 2025

40166472 (PubMed )
Supplement: DataSheet1.xlsx › 3._WES

Balance of care activity after EMA recommendation for DPYD gene testing in Galicia.

Gil-Rodríguez A et al.

Frontiers in Pharmacology, 2025

Unveiling the heritability of selected unexplored pharmacogenetic markers in the Saudi population.

Alshabeeb MA et al.

Frontiers in 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
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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."