DPYD Genotyping in Greek Cancer Patients: Clinical Validation and Implementation of EMA-Recommended Variants for Fluoropyrimidine Dose Individualisation

Bekzat Karimov, Azamat Tulegenov, Nursultan Aitov

2024

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DOI 10.51847/wo5kqjwd8w
Data confidence 70 medium
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Abstract

Dihydropyrimidine dehydrogenase (DPD), encoded by the DPYD gene, is the key enzyme regulating the breakdown of fluoropyrimidines (FPs). Variants in DPYD substantially alter DPD function and are firmly established predictors of FP-related adverse reactions. Four specific DPYD polymorphisms—rs3918290, rs55886062, rs67376798, and rs75017182—are incorporated into genotype-guided FP dosing recommendations and are advised by the European Medicines Agency (EMA) for testing prior to therapy. In Greece,