title: CHEK2 1100delC, IVS2+1G>A and I157T mutations are not present in colorectal cancer cases from Turkish population.
abstract: BACKGROUND
  The cell cycle checkpoint kinase 2 (CHEK2) protein participates in the DNA damage response in many cell types. Germline mutations in CHEK2 (1100delC, IVS2+1G>A and I157T) have been impaired serine/threonine kinase activity and associated with a range of cancer types. This hospital-based case-control study aimed to investigate whether CHEK2 1100delC, IVS2+1G>A and I157T mutations play an important role in the development of colorectal cancer (CRC) in Turkish population.
  
  
  METHODS
  A total of 210 CRC cases and 446 cancer-free controls were genotyped for CHEK2 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 the CHEK2 1100delC, IVS2+1G>A and I157T mutations in any of the Turkish subjects.
  
  
  CONCLUSIONS
  Our result demonstrate for the first time that CHEK2 1100delC, IVS2+1G>A and I157T mutations have not been agenetic susceptibility factor for CRC in the Turkish population. Overall, our data suggest that genotyping of CHEK2 mutations in clinical settings in the Turkish population should not be recommended. However, independent studies are need 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: Mehmet
authors.initials: M
authors.lastname: Topaktaş
authors.forename: Hikmet
authors.initials: H
authors.lastname: Akkız
authors.forename: Aynur
authors.initials: A
authors.lastname: Bekar
authors.forename: Ersin
authors.initials: E
authors.lastname: Akgöllü
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D016022:Case-Control Studies; D064447:Checkpoint Kinase 2; D015179:Colorectal Neoplasms / Q000453:epidemiology / Q000235:genetics* / Q000473:pathology; D005260:Female; D020022:Genetic Predisposition to Disease / Q000208:ethnology* / Q000235:genetics*; D018095:Germ-Line Mutation; D006801:Humans; D008297:Male; D008875:Middle Aged; D060787:Neoplasm Grading; D012150:Polymorphism, Restriction Fragment Length; D017346:Protein Serine-Threonine Kinases / Q000235:genetics*; D012016:Reference Values; D014421:Turkey / Q000453:epidemiology; D055815:Young Adult
chemical_list: D064447:Checkpoint Kinase 2; C578634:CHEK2 protein, human; D017346:Protein Serine-Threonine Kinases