New DPYD variants causing DPD deficiency in patients treated with fluoropyrimidine.

Xandra García-GonzálezBartosz KaczmarczykJudith Abarca-ZabalíaFabienne ThomasPilar García-AlfonsoLuis RoblesVanessa PachónÁngeles VazSara Salvador-MartínMaría Sanjurjo-SáezLuis Andrés López-Fernández
Published in: Cancer chemotherapy and pharmacology (2020)
Whole exon sequencing of DPYD in patients with suspicion of partial DPD deficiency can help to identify rare or new variants that lead to enzyme inactivation. Combining different techniques can yield abundant information without increasing workload and cost burden, thus making it a useful approach for implementation in patient care.