title: The checkpointkinase 2 (CHK2) 1100delC germ line mutation is not associated with the development of squamous cell carcinoma of the head and neck (SCCHN).
abstract: BACKGROUND
  The checkpointkinase 2 (CHK2) is part of the highly conserved ATM-CHK2 signaling pathway, which is activated in response to DNA damage, in particular after double strand breaks which can be caused by carcinogens like smoking. After induction of downstream targets, e.g. the tumor suppressor p53, its activation leads to cell cycle arrest and apoptosis. Recently, the presence of CHK2 germ line mutations, primarily the 1100delC variant, has been reported to be involved in carcinogenesis. The CHK2 1100delC variant results in a truncated protein which is instable and inactive. Carriers of this variant have been shown to have an increased risk to develop breast cancer and probably also other tumors. Our purpose was to investigate the role of CHK2 germ line mutations in patients with squamous cell carcinoma of the head and neck (SCCHN).
  
  
  METHODS
  We investigated 91 patients suffering from SCCHN including all tumor sites (oropharynx, hypopharynx, larynx) for the presence of the germ line mutation 1100delC by direct sequence analysis. Patients were characterized by their tumor localization, tumor stage, age, the presence of additional malignant tumors and predisposing carcinogens (smoking, alcohol abuse).
  
  
  RESULTS
  None of the patients, independently of the tumor site, age, the abuse of predisposing carcinogens, or the presence of other kinds of tumors, carried the CHK2 1100delC variant.
  
  
  CONCLUSIONS
  The germ line CHK2 1100delC variant does not seem to have a major impact on the development of SCCHN.
authors.affiliation: Department of Otorhinolaryngology, Head and Neck Surgery, Heinrich-Heine-University Düsseldorf, Germany. scheckenbach@med.uni-duesseldorf.de
authors.forename: Kathrin
authors.initials: K
authors.lastname: Scheckenbach
authors.forename: Galatia
authors.initials: G
authors.lastname: Papadopoulou
authors.forename: Thomas K
authors.initials: TK
authors.lastname: Hoffmann
authors.forename: Adam
authors.initials: A
authors.lastname: Chaker
authors.forename: Henning
authors.initials: H
authors.lastname: Bier
authors.forename: Jörg
authors.initials: J
authors.lastname: Schipper
authors.forename: Vera
authors.initials: V
authors.lastname: Balz
authors.forename: Martin
authors.initials: M
authors.lastname: Wagenmann
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D002294:Carcinoma, Squamous Cell / Q000201:enzymology* / Q000235:genetics* / Q000473:pathology; D064447:Checkpoint Kinase 2; D005260:Female; D020022:Genetic Predisposition to Disease; D018095:Germ-Line Mutation / Q000235:genetics*; D006258:Head and Neck Neoplasms / Q000201:enzymology* / Q000235:genetics* / Q000473:pathology; D006801:Humans; D008297:Male; D008875:Middle Aged; D009367:Neoplasm Staging; D011230:Precancerous Conditions / Q000201:enzymology / Q000235:genetics / Q000473:pathology*; D017346:Protein Serine-Threonine Kinases / Q000235:genetics*
chemical_list: D064447:Checkpoint Kinase 2; C578634:CHEK2 protein, human; D017346:Protein Serine-Threonine Kinases