Varaico: Literature-Extracted Genetic Variants

Gene:DPYD
Variant:p.N635_I636Splc
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DPYD

NM_000110.4:p.N635_I636Splc

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

Clinical response to capecitabine in a DPYD*2A homozygous patient: Case report and therapeutic guidance.

Damhof MA et al.

British Journal of Clinical Pharmacology, 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

Uncovering the Molecular Signatures of Rare Genetic Diseases in the Punjabi Population.

Tabassum I et al.

International Journal of Molecular Sciences, 2025

41516090 (PubMed )
Supplement: ijms-27-00206-s001.zip › Supplementary_Table_S2__Tabassum_et_al.xlsx › Table_S2A

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

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 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

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

Exploring GBA1 gene in Parkinson's disease: Prevalence and variant spectrum from Asia minor.

Koç Yekedüz M et al.

Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2025

40542290 (PubMed )
Supplement: 10072_2025_8286_MOESM1_ESM.xlsx › T_M_HASTALAR

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

Implementation of DPYD and UGT1A1 Testing in Patients With GI Cancer: A Prospective, Nonrandomized Clinical Trial.

Tuteja S et al.

Jco Precision Oncology, 2025

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

Investigating the genetic landscape of cancer in Jordan: a step toward personalized care.

Al-Eitan LN et al.

European Journal of Medical Research, 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

Comprehensive Evaluation of a 1021-Gene Panel in FFPE and Liquid Biopsy for Analytical and Clinical Use.

Meintani A et al.

International Journal of Molecular Sciences, 2025

40649709 (PubMed )
Supplement: ijms-26-05930-s001.zip › SUPPLEMENTARY_TABLE_1.xlsx › Comparison_FFPE

Exome Study of Single Nucleotide Variations in Patients with Syndromic and Non-Syndromic Autism Reveals Potential Candidate Genes for Diagnostics and Novel Single Nucleotide Variants.

Belenska-Todorova L et al.

Cells, 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

Clinical and Genetic Spectrum of Patients with Pediatric-Onset Epilepsy: Insights from a Single-Center Study.

Tozkir H et al.

Genes, 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

Plasma Metabolic Outliers Identified in Estonian Human Knockouts.

Yu K et al.

Metabolites, 2025

40422899 (PubMed )
Supplement: metabolites-15-00323-s001.zip › TableS2.xlsx › TableSY

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

Ho TT et al.

Clinical Pharmacology and Therapeutics, 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."