Case report
Aug 2026
The variant c.2766+3A>T in DPYD leads to exon 21 skipping and is associated with DPD deficiency and severe fluoropyrimidine toxicity.
A 50-year-old male with colorectal cancer who received adjuvant XELOX and developed life-threatening grade 3-4 toxicities is described, and a c.2766+3A>T variant leads to a non-functional DPD enzyme and is a likely cause of severe fluoropyrimidine-related toxicity.
S. Salvador-Martín, I. Taladriz-Sender, Paula Zapata-Cobo et al.
· British Journal of Clinical... · 0 citations