Article
DPYD c.85 T > C, DPYD c.496 A>G, and DPYD c.2194 G>A and severe toxicity to fluoropyrimidines in PREPARE and Alpe-DPD trials. An original study and meta-analysis.
Pharmacological research - 1 Oct 2026
De Mattia Elena, Polesel Jerry, van der Lee Maaike, Bohringer Stefan, Gambron Martina, Perfler Samantha, Roncato Rossana, Canil Giovanni, Posocco Bianca, Cats Annemieke, Mathijssen Ron H J, Guchelaar Henk-Jan, Schellens Jan H M, Gelderblom Hans, Spina Michele, Puglisi Fabio, Swen Jesse J, Cecchin Erika
Abstract excerpt
Current DPYD genotyping panels used to prevent fluoropyrimidine (FL)-related toxicity explain only a limited proportion of severe adverse events. The clinical relevance, beyond current testing, of additional DPYD variants, including DPYD*6 (c.2194 G>A, rs1801160), DPYD c.496 A>G (rs2297595), and DPYD*9 A (c.85 T > C, rs1801265) remains debated. This study evaluated each polymorphism individually, irrespective of...
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