title: Investigation of IVS14 + 1G > A polymorphism of DPYD gene in a group of Bosnian patients treated with 5-Fluorouracil and capecitabine.
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.
authors.affiliation: Oncology Clinic, University of Sarajevo Clinics Centre, Bolnicka 25, Sarajevo, Bosnia and Herzegovina.
authors.forename: Timur
authors.initials: T
authors.lastname: Cerić
authors.forename: Nermina
authors.initials: N
authors.lastname: Obralić
authors.forename: Lejla
authors.initials: L
authors.lastname: Kapur-Pojskić
authors.forename: Drazenka
authors.initials: D
authors.lastname: Macić
authors.forename: Semir
authors.initials: S
authors.lastname: Beslija
authors.forename: Anes
authors.initials: A
authors.lastname: Pasić
authors.forename: Sejla
authors.initials: S
authors.lastname: Cerić
mesh_terms: D000328:Adult; D000368:Aged; D000964:Antimetabolites, Antineoplastic / Q000009:adverse effects* / Q000493:pharmacokinetics; D017522:Bosnia and Herzegovina / Q000453:epidemiology; D004247:DNA / Q000235:genetics; D042943:Dihydrouracil Dehydrogenase (NADP) / Q000235:genetics*; D005091:Exons; D005260:Female; D005472:Fluorouracil / Q000009:adverse effects* / Q000493:pharmacokinetics; D017353:Gene Deletion; D005787:Gene Frequency; D006579:Heterozygote; D006801:Humans; D008297:Male; D008875:Middle Aged; D009369:Neoplasms / Q000150:complications / Q000188:drug therapy / Q000235:genetics; D011110:Polymorphism, Genetic; D020133:Reverse Transcriptase Polymerase Chain Reaction
chemical_list: D000964:Antimetabolites, Antineoplastic; D004247:DNA; D042943:Dihydrouracil Dehydrogenase (NADP); D005472:Fluorouracil