Varaico: Literature-Extracted Genetic Variants

Gene:DPYD
Variant:p.C29R
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DPYD

NM_000110.4:p.C29R

Associated Papers

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.

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

Identification of Poor Prognostic Markers in Triple-Negative Breast Cancer Using Whole Exome Sequencing.

Lee S et al.

Journal of Breast Cancer, 2025

41311331 (PubMed )
Supplement: jbc-28-406-s001.xls › jbc-28-406-s001

Targeted adaptive sampling enables clinical pharmacogenomics testing and genome-wide genotyping.

Gan PHP 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

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

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

Augmenting precision medicine via targeted RNA-Seq detection of expressed mutations.

Li D et al.

Npj Precision Oncology, 2025

40514442 (PubMed )
Supplement: 41698_2025_993_MOESM2_ESM.xlsx › RNA-unique_variants__Impacts_

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

Otero-Torres S et al.

Pharmaceuticals (basel, Switzerland), 2025

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

White C et al.

Internal Medicine Journal, 2025

ctDNA-based liquid biopsy reveals wider mutational profile with therapy resistance and metastasis susceptibility signatures in early-stage breast cancer patients.

Bharde A et al.

The Journal of Liquid Biopsy, 2025

40027235 (PubMed )
Supplement: mmc4.xlsx › Sheet1

Whole exome sequencing reveals an FCGBP variant associated with spontaneous intraabdominal hemorrhage in severe acute pancreatitis.

Tang QY et al.

Imetaomics, 2025

41675706 (PubMed )
Supplement: IMO2-2-e52-s002.xlsx › 2D

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

Shamaei Zadeh A 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

Clinical impact of pharmacogenomics in pediatric care: insights extracted from clinical exome sequencing.

Maggo S et al.

Frontiers in Genetics, 2025

40510810 (PubMed )
Supplement: Table1.xlsx › Sheet1

Genetic variants and clinical determinants affecting the response to 5-Fluorouracil-based treatment in Chilean patients with advanced colorectal cancer.

Cerpa LC et al.

Frontiers in Oncology, 2025

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

Piriyapongsa J et al.

Scientific Reports, 2024

Influence of DPYD gene polymorphisms on 5-Fluorouracil toxicities in Thai colorectal cancer patients.

Atasilp C et al.

Cancer Chemotherapy and Pharmacology, 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

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

Sherman CA et al.

Scientific Reports, 2024

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

39350200 (PubMed )
Supplement: 12885_2024_12981_MOESM1_ESM.docx

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

Discovering novel germline genetic variants linked to severe fluoropyrimidine-related toxicity in- and outside DPYD.

Knikman JE et al.

Genome Medicine, 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

Novel Genetic Variants Explaining Severe Adverse Drug Events after Clinical Implementation of DPYD Genotype-Guided Therapy with Fluoropyrimidines: An Observational Study.

Díaz-Villamarín X et al.

Pharmaceutics, 2024

Approach for Phased Sequence-Based Genotyping of the Critical Pharmacogene Dihydropyrimidine Dehydrogenase (DPYD).

Ambrodji A et al.

International Journal of Molecular Sciences, 2024

Fluoropyrimidine Toxicities and DPYD Genotyping: A Clinical Case.

Peixoto M et al.

Cureus, 2024

APF2: an improved ensemble method for pharmacogenomic variant effect prediction.

Zhou Y et al.

The Pharmacogenomics Journal, 2024

38802404 (PubMed )
Supplement: 41397_2024_338_MOESM1_ESM.xlsx › Sheet1

Germline cis variant determines epigenetic regulation of the anti-cancer drug metabolism gene dihydropyrimidine dehydrogenase (DPYD).

Zhang T et al.

Elife, 2024

Contradiction in Star-Allele Nomenclature of Pharmacogenes between Common Haplotypes and Rare Variants.

Ahn SH et al.

Genes, 2024

38674455 (PubMed )
Supplement: genes-15-00521-s001.zip › Supplementary_Table.xls › Table_S1

Assessing the Occurrence and Influence of Cancer Chemotherapy-Related Pharmacogenetic Alleles in the Chilean Population.

Owen GI et al.

Pharmaceutics, 2024

Germline cis variant determines epigenetic regulation of the anti-cancer drug metabolism gene dihydropyrimidine dehydrogenase (DPYD).

Zhang T et al.

Biorxiv : the Preprint Server for Biology, 2024

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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."