title: DNA repair gene ERCC2 polymorphisms and risk of squamous cell carcinoma of the head and neck.
abstract: BACKGROUND
  Genetic aberrations of DNA repair enzymes are known to be common events and to be associated with different cancer entities. Aim of the following study was to analyze the genetic association of single nucleotide polymorphisms (SNP) of the DNA repair genes with the risk of squamous cell carcinoma of the head and neck (HNSCC).
  
  
  METHODS
  Genetic variants ERCC2 Lys751Gln (rs13181), ERCC2 Asp312Asn (rs1799793), XRCC1 Arg194Trp (rs1799782); XRCC1 Gln399Arg (rs25487), XRCC1 Arg280His (rs25489) and XRCC3 Thr241Met (rs861539) were analyzed in a primary study group comprising 169 patients with histologically confirmed HNSCC and 463 healthy control subjects. Polymorphisms associated with HNSCC were furthermore analyzed in an independent replication study including 125 HNSCC.
  
  
  RESULTS
  Only the ERCC2 751 Gln/Gln genotype was associated with HNSCC in the primary study (p=0.033) and in the replication study (p=0.023), resulting in an overall odds ratio of 0.54 (95% confidence interval 0.35-0.92; p=0.006).
  
  
  CONCLUSIONS
  Carriers of the homozygous ERCC2 751 Gln/Gln genotype may be at lower risk for HNSCC.
authors.affiliation: ENT University Hospital Graz, Medical University Graz, Austria. markus.gugatschka@klinikum-graz.at
authors.forename: Markus
authors.initials: M
authors.lastname: Gugatschka
authors.forename: Dadbeh
authors.initials: D
authors.lastname: Dehchamani
authors.forename: Thomas C
authors.initials: TC
authors.lastname: Wascher
authors.forename: Gerhard
authors.initials: G
authors.lastname: Friedrich
authors.forename: Wilfried
authors.initials: W
authors.lastname: Renner
mesh_terms: D000368:Aged; D002294:Carcinoma, Squamous Cell / Q000235:genetics* / Q000473:pathology; D004260:DNA Repair / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D006258:Head and Neck Neoplasms / Q000235:genetics* / Q000473:pathology; D006720:Homozygote; D006801:Humans; D008297:Male; D008875:Middle Aged; D016017:Odds Ratio; D020641:Polymorphism, Single Nucleotide; D012307:Risk Factors; D051759:Xeroderma Pigmentosum Group D Protein / Q000235:genetics*
chemical_list: D051759:Xeroderma Pigmentosum Group D Protein; C497292:ERCC2 protein, human