Investigation of IVS14+ 1G > A polymorphism of DPYD gene in a group of Turkish patients with colorectal cancer.

BACKGROUND: Dihydropyrimidine dehydrogenase (DPD) is a critical enzyme in the catabolism of 5-fluorouracil (5-FU), a drug frequently used in cancer therapy. One of the possible causes of severe 5-FU toxicity is genetic polymorphisms in the DPYD gene, such as IVS14+1G > A. In this study we aimed to investigate the frequency of the IVS14+1G > A mutation in the DPYD gene in Turkish patients with colorectal cancer (CRC) and healthy controls. MATERIALS AND METHODS: Blood samples were collected from 218 individuals (56 patients with CRC and 162 healthy individuals), and the DNA was isolated. A polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method was used to detect the frequency of the IVS14+1G > A mutation in our population. RESULTS: The IVS14+1G > A mutation (heterozygous) in the DPYD gene was identified in two healthy subjects in this Turkish population. CONCLUSION: The apparently high prevalence (allele frequency of 0.6%) of the IVS14+1G > A mutation warrants genetic screening for this mutation in cancer patients before the administration of 5-FU.