CHK2 1100delC, IVS2 + 1G>A and I157T mutations are not present in hepatocellular cancer cases from a Turkish population

AimThe cell cycle checkpoint kinase 2 (CHK2) protein participates in the DNA damage response in many cell types. Germline mutations in CHK2 (1100delC, IVS2 + 1G>A and I157T) have been associated with a range of cancer types. This study aimed to investigate whether CHK2 1100delC, IVS2 + 1G>A and I157T mutations play an important role in the development of hepatocellular carcinoma (HCC) in a Turkish population.MethodsA total of 165 hepatocellular cancer cases and 446 cancer-free controls were genotyped for CHK2 mutations by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) and allele specific-polymerase chain reaction (AS-PCR) methods.ResultsWe did not find CHK2 1100delC, IVS2 + 1G>A and I157T mutations in any of 611 Turkish subjects.ConclusionOur results demonstrate for the first time that CHK2 1100delC, IVS2 + 1G>A and I157T mutations have not been a genetic susceptibility factor for HCC in the Turkish population. Overall, our data suggests that genotyping of CHK2 mutations in clinical settings in the Turkish population should not be recommended. Independent studies are needed to validate our findings in a larger series, as well as in patients of different ethnic origins.

► CHK2 protein participates in the DNA damage response in many cell types.
► CHK2 (1100delC, IVS2 + 1G>A, I157T) mutations have been associated with cancer risk.
► We investigated the association of CHK2 mutations and risk of HCC.
► Genotyping of CHK2 mutations in the Turkish population should not be recommended.