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.