A Strong Relationship Between Oral Squamous Cell Carcinoma and DNA Repair Genes

• Published in: Biochemical genetics Vol. 55; no. 5-6; pp. 378 - 386
• Main Authors: Avci, Hakan, Ergen, Arzu, Bireller, Elif Sinem, Ertugrul, Baris, Cakmakoglu, Bedia
• Format: Journal Article
• Language: English
• Published: New York Springer US 01.12.2017; Springer Nature B.V
• Subjects: Adult; Aged; Alleles; Amino Acid Substitution; Biochemistry; Biomedical and Life Sciences; Biomedicine; Carcinoma, Squamous Cell - genetics; Carcinoma, Squamous Cell - metabolism; Carcinoma, Squamous Cell - pathology; Deoxyribonucleic acid; DNA; DNA damage; DNA Repair; DNA-Binding Proteins - genetics; DNA-Binding Proteins - metabolism; Drosophila Proteins - genetics; Drosophila Proteins - metabolism; Female; Genes; Genetic analysis; heterozygosity; Heterozygotes; Human Genetics; Humans; Male; Medical Microbiology; Middle Aged; Mouth Neoplasms - genetics; Mouth Neoplasms - metabolism; Mouth Neoplasms - pathology; Mutation, Missense; Neoplasm Proteins - genetics; Neoplasm Proteins - metabolism; Oral cancer; Oral squamous cell carcinoma; Original Article; patients; Polymerase chain reaction; Polymorphism; Polymorphism, Restriction Fragment Length; protective effect; Repair; Restriction fragment length polymorphism; Risk analysis; Risk factors; Single-nucleotide polymorphism; Smoking; Smoking - adverse effects; Smoking - metabolism; Squamous cell carcinoma; Turkey; X-radiation; X-ray Repair Cross Complementing Protein 1 - genetics; X-ray Repair Cross Complementing Protein 1 - metabolism; XRCC1 protein; Zoology; XRCC3 Thr241Met; XRCC1 Arg399Gln; Oral squamous cell carcinoma
• ISSN: 0006-2928; 1573-4927; 1573-4927
• DOI: 10.1007/s10528-017-9806-9

Single nucleotide polymorphisms of DNA repair genes alter protein function and modulate DNA repair efficiency in various cancers. The X-ray repair cross-complementing group (XRCC) is responsible for the repair of DNA base damage and single-strand breaks. The aim of our study was to investigate the association of XRCC1 Arg399Gln and XRCC3 Thr241Met polymorphisms with the susceptibility to develop oral squamous cell carcinoma (OSCC) in Turkish subjects. One hundred eleven patients with OSCC and 148 healthy controls were recruited for the study. Genetic analysis was performed using polymerase chain reaction/restriction fragment length polymorphism (PCR/RFLP). We found that the XRCC1 Arg399Gln Gln/Gln genotype and Gln allele were risk factors for OSCC. Also, Arg/Arg genotype and Arg allele had protective effects against OSCC. Relative to XRCC3 Thr241Met polymorphism, carrying homozygote variants (Thr/Thr and Met/Met) was related with elevated OSCC risk. However, the heterozygote genotype and Thr allele variants were shown to be protective against OSCC. We suggest that XRCC1 Arg399Gln Gln/Gln genotype, Gln allele, and homozygote variants of XRCC3 Thr241Met polymorphism may be a risk factor for predisposition of OSCC in Turkish. In addition, XRCC3 Thr241Met genotype could be associated with tumor size and level of daily smoking.