Varaico: Literature-Extracted Genetic Variants

Gene:DPYD
Variant:p.D949V
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DPYD

NM_000110.4:p.D949V

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

An optimized HPLC-MS/MS assay for uracil and dihydrouracil in plasma: Improving dihydropyrimidine dehydrogenase phenotyping for individualized fluoropyrimidine treatment.

Bennani Y et al.

Journal of Chromatography. B, Analytical Technologies in the Biomedical and Life Sciences, 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

Pharmacogenomic Calling From Whole-Exome Sequencing in the Taiwanese Population-A Real-World Experience.

Lin HH et al.

Molecular Genetics & Genomic Medicine, 2026

41559003 (PubMed )
Supplement: MGG3-14-e70201-s001.xlsx › Table_S3.

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

Quiñones LA et al.

Frontiers in Pharmacology, 2026

A Pharmacogenomic Basis for Tolerance of 5-Fluorouracil Following Early, Severe Toxicity from Capecitabine in a CDA Ultrarapid Metabolizer Colon Cancer Patient: A Case Report.

Mazhindu TA et al.

Cancer Management and Research, 2026

Whole-exome sequencing in children with dyslexia implicates rare variants in CLDN3 and ion channel genes.

Marianski K et al.

Human Genetics, 2025

41442065 (PubMed )
Supplement: 439_2025_2796_MOESM4_ESM.xlsx › ST2

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

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

Clinical exome sequencing efficacy and phenotypic expansions involving non-isolated congenital anomalies of kidney and urinary tract (CAKUT+).

Rivera-Munoz EA et al.

European Journal of Human Genetics : Ejhg, 2025

40913078 (PubMed )
Supplement: NIHMS2114636-supplement-Supplemental_Table_S1.xlsx › Table_S1

Phenotyping and genotyping for the dihydropyrimidine dehydrogenase test in Italy: a precise diagnostic strategy to detect rare variants and improve drug administration.

Tommolini ML et al.

Clinical Biochemistry, 2025

Severe fluoropyrimidine toxicity in a patient with rectal adenocarcinoma with DPYD c.2846A>T heterozygous mutation: A case report.

Tunc S et al.

Oncology Letters, 2025

Characterisation of pharmacogenomic variation in the Shetland and Orkney Isles in Scotland.

Twesigomwe D et al.

Scientific Reports, 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

Adult granulosa cell tumours of the testis analogous to ovarian counterparts are exceptionally rare: analysis of a multicentric series and review of the literature.

Ricci C et al.

Histopathology, 2025

A feasibility study of whole genome germline testing as an adjunct screening tool in a UK general private practice.

Jones AB et al.

Scientific Reports, 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

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

Personalizing cancer therapy: the role of pharmacogenetics in overcoming drug resistance and toxicity.

Nafchi HM et al.

Molecular Biology Reports, 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

Management of patients with reduced dihydropyrimidine dehydrogenase activity receiving combined 5-fluoruracil-/capecitabine-based chemoradiotherapy.

Hoffmann E et al.

Strahlentherapie Und Onkologie : Organ Der Deutschen Rontgengesellschaft ... [et Al], 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

Pharmacogenetic Profiling of Genes Associated with Outcomes of Chemotherapy in Omani Healthy Controls.

Al-Mahrouqi N et al.

Genes, 2025

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

Otero-Torres S et al.

Pharmaceuticals (basel, Switzerland), 2025

Optimizing fluoropyrimidine therapy through dihydropyrimidine dehydrogenase polymorphism testing.

Krishnan A

World Journal of Gastrointestinal Oncology, 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

40279185 (PubMed )
Supplement: CTS-18-e70230-s001.pdf
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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."