Article
DPYD Genotyping of Patients with Fluoropyrimidine Treatment: Results of Protocol Implementation and Outcomes of Patients Carrying Unusual DPYD Variants.
Genes - 26 Jun 2026
Salgado Garrido Josefa, Alonso Llorente Alba, Teijido Hermida Oscar, Beloqui Lizaso Juan José, Grández Ladrón de Guevara Rosana, Velasco Elena Mata, Vera García Ruth, Valiente Martín Alberto
Abstract excerpt
Background/Objectives: The DPYD gene encodes the enzyme dihydropyrimidine dehydrogenase that metabolizes fluoropyrimidines. Genetic variants in DPYD have been associated with altered enzyme activity; therefore, accurate detection and interpretation is critical for individualized fluoropyrimidine therapy. The most common causal variant is c.1129-5923C>G (rs75017182) located in intron 10, which introduces a cryptic...
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