title: CHK2 1100delC, IVS2+1G>A and I157T mutations are not present in hepatocellular cancer cases from a Turkish population.
abstract: OBJECTIVE
  The 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.
  
  
  METHODS
  A 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.
  
  
  RESULTS
  We did not find CHK2 1100delC, IVS2+1G>A and I157T mutations in any of 611 Turkish subjects.
  
  
  CONCLUSIONS
  Our 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.
authors.affiliation: Adıyaman University, Adıyaman School of Health, Department of Nursing, 02040 Adıyaman, Turkey. slymnbyrm81@gmail.com
authors.forename: Süleyman
authors.initials: S
authors.lastname: Bayram
authors.forename: Hikmet
authors.initials: H
authors.lastname: Akkız
authors.forename: Mehmet
authors.initials: M
authors.lastname: Topaktaş
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D064447:Checkpoint Kinase 2; D005260:Female; D006801:Humans; D008113:Liver Neoplasms / Q000201:enzymology / Q000208:ethnology / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D009154:Mutation; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length; D017346:Protein Serine-Threonine Kinases / Q000235:genetics*; D014421:Turkey / Q000208:ethnology
chemical_list: D064447:Checkpoint Kinase 2; C578634:CHEK2 protein, human; D017346:Protein Serine-Threonine Kinases