Investigation of Ivs14+1G>A Polymorphism of Dpyd Gene in a Group of Bosnian Patients Treated with 5-Fluorouracil and Capecitabine

Timur Cerić; Nermina Obralić; Lejla Kapur-Pojskić; Draženka Macić; Semir Bešlija; Anes Pašić; Šejla Cerić

doi:10.17305/bjbms.2010.2712

Authors

Timur Cerić Oncology Clinic, University of Sarajevo Clinics Centre
Nermina Obralić Oncology Clinic, University of Sarajevo Clinics Centre
Lejla Kapur-Pojskić INGEB - Institute for Genetic Engineering and Biotechnology
Draženka Macić INGEB - Institute for Genetic Engineering and Biotechnology
Semir Bešlija Oncology Clinic, University of Sarajevo Clinics Centre
Anes Pašić Oncology Clinic, University of Sarajevo Clinics Centre
Šejla Cerić Nuclear Medicine Clinic, University of Sarajevo Clinics Centre

DOI:

https://doi.org/10.17305/bjbms.2010.2712

Keywords:

pharmacogenetics, Dihydropyrimidine dehydrogenase, DPYD2A mutation

Abstract

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.