Varaico: Literature-Extracted Genetic Variants

Gene:DPYD
Variant:p.E376_M377Splc
Back to variants list

DPYD

NM_000110.4:p.E376_M377Splc

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

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

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

Novel approaches for the discovery of pharmacogenetic biomarkers of chemotoxicity in patients with colorectal cancer.

Simoes AR et al.

British Journal of Pharmacology, 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

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

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

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

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

Saarenheimo J et al.

Clinical Colorectal Cancer, 2025

Pharmacogenomic Testing in the Clinical Laboratory: Historical Progress and Future Opportunities.

Moyer AM et al.

Annals of Laboratory Medicine, 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

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

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

Shamaei Zadeh A et al.

Cancer Chemotherapy and Pharmacology, 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

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

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

Pharmacogenomic landscape of the Thai population from genome sequencing of 949 individuals.

Piriyapongsa J et al.

Scientific Reports, 2024

39730427 (PubMed )
Supplement: 41598_2024_79018_MOESM2_ESM.xlsx › S4a

Exploring a novel model for newborn genetic screening in Ningxia, northern China: A retrospective observational study.

Mao X et al.

Medicine, 2024

39969324 (PubMed )
Supplement: medi-103-e41064-s001.xlsx › S2

The Frequency of DPYD c.557A>G in the Dominican Population and Its Association with African Ancestry.

Guevara M et al.

Pharmaceutics, 2024

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

DPYD genotype-guided dose personalisation for fluoropyrimidine-based chemotherapy prescribing in solid organ cancer patients in Australia: GeneScreen 5-FU study protocol.

White C et al.

Bmc Cancer, 2024

Pharmacogenetic analysis of structural variation in the 1000 genomes project using whole genome sequences.

Sherman CA et al.

Scientific Reports, 2024

39354004 (PubMed )
Supplement: 41598_2024_73748_MOESM8_ESM.xlsx › Sheet1

DPYD Genotyping Recommendations: A Joint Consensus Recommendation of the Association for Molecular Pathology, American College of Medical Genetics and Genomics, Clinical Pharmacogenetics Implementation Consortium, College of American Pathologists, Dutch Pharmacogenetics Working Group of the Royal Dutch Pharmacists Association, European Society for Pharmacogenomics and Personalized Therapy, Pharmacogenomics Knowledgebase, and Pharmacogene Variation Consortium.

Pratt VM et al.

The Journal of Molecular Diagnostics : Jmd, 2024

Characterization of Reference Materials for DPYD: A GeT-RM Collaborative Project.

Gaedigk A et al.

The Journal of Molecular Diagnostics : Jmd, 2024

Pharmacogenetics of DPYD and treatment-related mortality on fluoropyrimidine chemotherapy for cancer patients: a meta-analysis and trial sequential analysis.

de Moraes FCA et al.

Bmc Cancer, 2024

Dihydropyrimidine Dehydrogenase Polymorphism c.2194G>A Screening Is a Useful Tool for Decreasing Gastrointestinal and Hematological Adverse Drug Reaction Risk in Fluoropyrimidine-Treated Patients.

Ardizzone A et al.

Current Issues in Molecular Biology, 2024

MIR27A Gene Polymorphism Modifies the Effect of Common DPYD Gene Variants on Severe Toxicity in Patients with Gastrointestinal Tumors Treated with Fluoropyrimidine-Based Anticancer Therapy.

Ikonnikova A et al.

International Journal of Molecular Sciences, 2024

DPYD genetic polymorphisms in non-European patients with severe fluoropyrimidine-related toxicity: a systematic review.

Chan TH et al.

British Journal of Cancer, 2024

1–50 of 176 papers
Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."