DNA repair gene ERCC2 polymorphisms and risk of squamous cell carcinoma of the head and neck

• Published in: Experimental and molecular pathology 2011-08, Vol.91 (1), p.331-334
• Main Authors: Gugatschka, Markus, Dehchamani, Dadbeh, Wascher, Thomas C., Friedrich, Gerhard, Renner, Wilfried
• Format: Article
• Language: English
• Subjects: Aged; Biological and medical sciences; Carcinoma, Squamous Cell - genetics; Carcinoma, Squamous Cell - pathology; Dermatology; DNA Repair - genetics; Female; Gene Frequency; Genetic Predisposition to Disease; Head and neck; Head and Neck Neoplasms - genetics; Head and Neck Neoplasms - pathology; Homozygote; Humans; Investigative techniques, diagnostic techniques (general aspects); Male; Medical sciences; Middle Aged; Odds Ratio; Otorhinolaryngology (head neck, general aspects and miscellaneous); Otorhinolaryngology. Stomatology; Pathology. Cytology. Biochemistry. Spectrometry. Miscellaneous investigative techniques; Polymorphism, DNA repair gene ERCC2; Polymorphism, Single Nucleotide; Risk Factors; Squamous cell carcinoma; Tumors; Tumors of the skin and soft tissue. Premalignant lesions; Xeroderma Pigmentosum Group D Protein - genetics
• ISSN: 0014-4800; 1096-0945
• DOI: 10.1016/j.yexmp.2011.03.004

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). 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. 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). Carriers of the homozygous ERCC2 751 Gln/Gln genotype may be at lower risk for HNSCC.