Abstract
BackgroundThe 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).MethodsThe 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.ResultsNo 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).ConclusionFinally, 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.
Highlights
The genes of base excision repair (BER) pathway have been extensively studied in the association with various human cancers
In this work we investigated two common single nucleotide polymorphisms of X-ray Repair Cross Complementing Group 1 (XRCC1) gene Arg194Trp and
The polymorphisms chosen for this study have been shown to have functional significance and may be responsible for a low DNA repair capacity phenotype characteristic of cancer patients including head and neck squamous carcinomas [29,30,31,32]
Summary
The genes of base excision repair (BER) pathway have been extensively studied in the association with various human cancers. Journal of Experimental & Clinical Cancer Research 2009, 28:37 http://www.jeccr.com/content/28/1/37 there are instances in which a DNA-repair protein is involved in more than one pathway. Single nucleotide polymorphisms (SNPs) in DNA repair genes may be associated with differences in the repair efficiency of DNA damage and may influence an individual's risk of cancer. Establishing this connection, has been a challenge due to the complexity of interactions that affect the repair pathways [3,4]. Increasing evidence links environmental exposures, subtle modification in DNA repair efficiency, and cancer risk [5]
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