Severe fluoropyrimidine toxicity due to novel and rare DPYD missense mutations, deletion and genomic amplification affecting DPD activity and mRNA splicing

Andre B. P. van Kuilenburg*, Judith Meijer, Dirk Maurer, Doreen Dobritzsch, Rutger Meinsma, Maartje Los, Lia C. Knegt, Lida Zoetekouw, Rob L. H. Jansen, Vincent Dezentje, Lieke H. van Huis-Tanja, Roel J. W. van Kampen, Jens Michael Hertz, Raoul C. M. Hennekam

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review

Original languageEnglish
Pages (from-to)721-730
Number of pages10
JournalBiochimica et Biophysica Acta-Molecular Basis of Disease
Volume1863
Issue number3
DOIs
Publication statusPublished - Mar 2017

Keywords

  • Dihydropyrimidine dehydrogenase
  • DPYD
  • 5-Fluorouracil
  • Capecitabine
  • Pharmacogenetics
  • Toxicity
  • DIHYDROPYRIMIDINE DEHYDROGENASE-DEFICIENCY
  • SINGLE NUCLEOTIDE POLYMORPHISMS
  • III COLON-CANCER
  • CLINICAL-RELEVANCE
  • ADJUVANT TREATMENT
  • INTRAGENIC REARRANGEMENTS
  • 5-FLUOROURACIL TOXICITY
  • COLORECTAL-CANCER
  • ENZYME-ACTIVITY
  • GENE

Cite this

van Kuilenburg, A. B. P., Meijer, J., Maurer, D., Dobritzsch, D., Meinsma, R., Los, M., Knegt, L. C., Zoetekouw, L., Jansen, R. L. H., Dezentje, V., van Huis-Tanja, L. H., van Kampen, R. J. W., Hertz, J. M., & Hennekam, R. C. M. (2017). 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, 1863(3), 721-730. https://doi.org/10.1016/j.bbadis.2016.12.010