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

• Main Authors: Timur Cerić, Nermina Obralić, Lejla Kapur-Pojskić, Draženka Macić, Semir Bešlija, Anes Pašić, Šejla Cerić
• Format: Article
• Language: English
• Published: Association of Basic Medical Sciences of Federation of Bosnia and Herzegovina 2010-05-01
• Series: Bosnian Journal of Basic Medical Sciences
• Subjects: pharmacogenetics; Dihydropyrimidine dehydrogenase; DPYD2A mutation
• Online Access: https://www.bjbms.org/ojs/index.php/bjbms/article/view/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.