Investigation of IVS14 + 1G > A polymorphism of DPYD gene in a group of Bosnian patients treated with 5-Fluorouracil and capecitabine

Bosn J Basic Med Sci. 2010 May;10(2):133-9. doi: 10.17305/bjbms.2010.2712.


Adverse drug reactions still pose an important clinical problem. Dihydropyrimidine dehydrogenase (DPD) is an enzyme that regulates 5-FU quantities available for anabolic processes and hence affects its pharmacokinetics, toxicity and efficacy. There are several studies describing a hereditary (pharmacogenetic) disorder in which individuals with absent or significantly reduced DPD activity may even develop a life-threatening toxicity following exposure to 5-FU. The most common mutation is known as the DPYD*2A or as the splice-site mutation (IVS14 + 1G A) leading to creation of a dysfunctional protein. An objective behind the study was to ascertain existence of the IVS14 + 1G A mutation among the population of Bosnia and Herzegovina. Our research has undeniably attested to existence of one heterozygote for the DPYD gene mutation, i.e. one heterozygote for IVS14 + 1 G > A, DPYD*2A mutation.

MeSH terms

  • Adult
  • Aged
  • Antimetabolites, Antineoplastic / adverse effects*
  • Antimetabolites, Antineoplastic / pharmacokinetics
  • Bosnia and Herzegovina / epidemiology
  • DNA / genetics
  • Dihydrouracil Dehydrogenase (NADP) / genetics*
  • Exons
  • Female
  • Fluorouracil / adverse effects*
  • Fluorouracil / pharmacokinetics
  • Gene Deletion
  • Gene Frequency
  • Heterozygote
  • Humans
  • Male
  • Middle Aged
  • Neoplasms / complications
  • Neoplasms / drug therapy
  • Neoplasms / genetics
  • Polymorphism, Genetic
  • Reverse Transcriptase Polymerase Chain Reaction


  • Antimetabolites, Antineoplastic
  • DNA
  • Dihydrouracil Dehydrogenase (NADP)
  • Fluorouracil