title: Genetic polymorphisms in DNA base excision repair gene XRCC1 and the risk of squamous cell carcinoma of the head and neck.
abstract: BACKGROUND
  The genes of base excision repair (BER) pathway have been extensively studied in the association with various human cancers. We performed a case-control study to test the association between two common single nucleotide polymorphisms (SNPs) of XRCC1 gene with human head and neck squamous cell carcinoma (HNSCC).
  
  
  METHODS
  The genotype analysis of Arg194Trp and Arg399Gln gene polymorphisms for 92 HNSCC patients and 124 controls of cancer free subjects, in Polish population were performed using the PCR-based restriction fragment length polymorphism (PCR-RFLP) with endonuclease MspI.
  
  
  RESULTS
  No altered risk has been found individually for these SNPs, however haplotypes analysis showed high association with head and neck cancer. The highest frequency, according to wild-type of Arg194Arg and Arg399Arg genotypes, was identified for Arg194Trp-Arg399Arg haplotype (OR, 2.96; 95% CI, 1.01-8.80).
  
  
  CONCLUSIONS
  Finally, we identified the combined Arg194Trp-Arg399Arg genotype of base excision repair gene XRCC1 that was associated with HNSCC and may have an impact on identification of a high-risk cancer population.
authors.affiliation: Department of Chronopharmacology, Medical University of Lodz, Lodz, Poland. zabiakow@o2.pl
authors.forename: Michal
authors.initials: M
authors.lastname: Kowalski
authors.forename: Karolina
authors.initials: K
authors.lastname: Przybylowska
authors.forename: Pawel
authors.initials: P
authors.lastname: Rusin
authors.forename: Jurek
authors.initials: J
authors.lastname: Olszewski
authors.forename: Alina
authors.initials: A
authors.lastname: Morawiec-Sztandera
authors.forename: Anna
authors.initials: A
authors.lastname: Bielecka-Kowalska
authors.forename: Wioletta
authors.initials: W
authors.lastname: Pietruszewska
authors.forename: Wojciech
authors.initials: W
authors.lastname: Mlynarski
authors.forename: Szemraj
authors.initials: S
authors.lastname: Janusz
authors.forename: Ireneusz
authors.initials: I
authors.lastname: Majsterek
mesh_terms: D000328:Adult; D002294:Carcinoma, Squamous Cell / Q000235:genetics* / Q000473:pathology; D016022:Case-Control Studies; D004260:DNA Repair; D004273:DNA, Neoplasm / Q000235:genetics*; D004268:DNA-Binding Proteins / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006258:Head and Neck Neoplasms / Q000235:genetics* / Q000473:pathology; D006801:Humans; D008297:Male; D008875:Middle Aged; D011110:Polymorphism, Genetic; D000076105:X-ray Repair Cross Complementing Protein 1
chemical_list: D004273:DNA, Neoplasm; D004268:DNA-Binding Proteins; D000076105:X-ray Repair Cross Complementing Protein 1; C000619371:XRCC1 protein, human