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

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