Open AccessDihydropyrimidine dehydrogenase deficiency in patients with severe toxicity after 5-fluorouracil: a retrospective single-center study
Author(s) -
Stephanie Detailleur,
Eva Segelov,
Marzia Del Re,
Hans Prenen
Publication year - 2020
Publication title -
annals of gastroenterology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.886
H-Index - 33
eISSN - 1792-7463
pISSN - 1108-7471
DOI - 10.20524/aog.2020.0551
Subject(s) - dpyd , dihydropyrimidine dehydrogenase , exon , medicine , retrospective cohort study , population , mutation , single center , genetics , fluorouracil , oncology , pharmacogenetics , gene , biology , chemotherapy , genotype , environmental health , thymidylate synthase
5-Fluorouracil (5-FU) is an agent frequently used in the treatment of solid cancers. A deficiency in the enzyme that catabolizes 5-FU leads to severe toxicity. The gene responsible for this enzyme is DPYD , located on chromosome 1q22. The most prevalent alteration described is DPYD*2A , which leads to a splicing defect and thus skipping of the translation of an entire exon. The objectives of this retrospective study were to describe the frequencies of DPYD gene mutations in a Belgian population and to correlate them with the grade of toxicity.