Varaico: Literature-Extracted Genetic Variants

Gene:DPYD
Variant:p.I560S
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DPYD

NM_000110.4:p.I560S

Associated Papers

Identification of additional DPYD polymorphisms that increase the risk of severe fluoropyrimidine toxicity and improved predictive accuracy when combined with previously validated variants.

Nguyen-Hoang N et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2026

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

Addressing genetic diversity and health inequities: RELIVAF's proposal for Latin American pharmacogenomic guidelines.

Quiñones LA et al.

Frontiers in Pharmacology, 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

Association of DPYD rs4294451, plasma uracil concentration, and sex with 5-fluorouracil exposure in patients with gastrointestinal cancer.

Brooks GA et al.

Cancer Chemotherapy and Pharmacology, 2025

Germline mutational landscape in a large cohort of Indian breast cancer.

Peter J et al.

Bmc Cancer, 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

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

Clinical Implications of Dihydropyrimidine Dehydrogenase Deficiency in GI and Hepatopancreaticobiliary Cancers Treated With Fluoropyrimidines: A Prospective Observational Study.

Goel V et al.

Jco Global Oncology, 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

A thymine-challenge test to prospectively evaluate dihydropyrimidine dehydrogenase activity for risk of severe 5-fluorouracil-induced gastrointestinal toxicity.

Helsby N et al.

Cancer Chemotherapy and Pharmacology, 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

Cracking rare disorders: a new minimally invasive RNA-seq protocol.

De Cock L et al.

Npj Genomic Medicine, 2025

40436861 (PubMed )
Supplement: 41525_2025_502_MOESM1_ESM.pdf

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

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

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

Pharmacogenomics: DPYD and Prevention of Toxicity.

Keen J et al.

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

The impact of genetic variability on Alzheimer's therapies: obstacles for pharmacogenetic progress.

Cacabelos R et al.

Expert Opinion on Drug Metabolism & Toxicology, 2025

Dihydropyrimidine enzyme activity and its effect on chemotherapy toxicity: importance of genetic testing.

Shamaei Zadeh A et al.

Cancer Chemotherapy and Pharmacology, 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

DPYD genotype should be extended to rare variants: report on two cases of phenotype / genotype discrepancy.

Vilquin P et al.

Cancer Chemotherapy and Pharmacology, 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

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

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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."