Person: García González, Xandra
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First Name
Xandra
Last Name
García González
Affiliation
Universidad Complutense de Madrid
Faculty / Institute
Farmacia
Department
Area
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- PublicationDPYD Exome, mRNA Expression and Uracil Levels in Early Severe Toxicity to Fluoropyrimidines: An Extreme Phenotype Approach(MPDI, 2021-08-13) Villalvazo, Priscila; Marzal Alfaro, Belén; García Alfonso, Pilar; Revuelta Herrero, José Luis; Thomas, Fabienne; López Tarruella, Sara; García González, Xandra; Calvo, Aitana; Yakoubi, Malika; Salvador Martín, Sara; López López, Flora; Aguilar, Iker; Sanjurjo Sáez, María; Martín, Miguel; López Fernández, Luis AndrésDihydropyrimidine dehydrogenase deficiency is a major cause of severe fluoropyrimidine-induced toxicity and could lead to interruption of chemotherapy or life-threatening adverse reactions. This study aimed to characterize the DPYD exon sequence, mRNA expression and in vivo DPD activity by plasma uracil concentration. It was carried out in two groups of patients with extreme phenotypes (toxicity versus control) newly treated with a fluoropyrimidine, during the first three cycles of treatment. A novel nonsense gene variant (c.2197insA) was most likely responsible for fluoropyrimidine-induced toxicity in one patient, while neither DPYD mRNA expression nor plasma uracil concentration was globally associated with early toxicity. Our present work may help improve pharmacogenetic testing to avoid severe and undesirable adverse reactions to fluoropyrimidine treatment and it also supports the idea of looking beyond DPYD.