Article
Severe fluoropyrimidine toxicity due to novel and rare DPYD missense mutations, deletion and genomic amplification affecting DPD activity and mRNA splicing.
Biochimica et biophysica acta. Molecular basis of disease - 1 Mar 2017
van Kuilenburg André B P, Meijer Judith, Maurer Dirk, Dobritzsch Doreen, Meinsma Rutger, Los Maartje, Knegt Lia C, Zoetekouw Lida, Jansen Rob L H, Dezentjé Vincent, van Huis-Tanja Lieke H, van Kampen Roel J W, Hertz Jens Michael, Hennekam Raoul C M
Abstract excerpt
Dihydropyrimidine dehydrogenase (DPD) is the initial and rate-limiting enzyme in the catabolism of 5-fluorouracil (5FU). Genetic variations in DPD have emerged as predictive risk factors for severe fluoropyrimidine toxicity. Here, we report novel and rare genetic variants underlying DPD deficiency in 9 cancer patients presenting with severe fluoropyrimidine-associated toxicity. All patients possessed a strongly...
Topics
- Aged
- Antimetabolites, Antineoplastic
- Capecitabine
- Dihydropyrimidine Dehydrogenase Deficiency
- Dihydrouracil Dehydrogenase (NADP)
- Female
- Fluorouracil
- Gene Amplification