Article
Rare genetic variant burden in DPYD predicts severe fluoropyrimidine-related toxicity risk.
Biomedicine & pharmacotherapy = Biomedecine & pharmacotherapie - 1 Oct 2022
De Mattia Elena, Silvestri Marco, Polesel Jerry, Ecca Fabrizio, Mezzalira Silvia, Scarabel Lucia, Zhou Yitian, Roncato Rossana, Lauschke Volker M, Calza Stefano, Spina Michele, Puglisi Fabio, Toffoli Giuseppe, Cecchin Erika
Abstract excerpt
Preemptive targeted pharmacogenetic testing of candidate variations in DPYD is currently being used to limit toxicity associated with fluoropyrimidines. The use of innovative next generation sequencing (NGS) approaches could unveil additional rare (minor allele frequency <1%) genetic risk variants. However, their predictive value and management in clinical practice are still controversial, at least partly due to...
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