Proteins involved in mechanisms of DNA repair play a crucial role in modulation of carcinogenic processes. Genes encoding these proteins, so called DNA repair genes, are present in human populations in different polymorphic variants. It is widely accepted that polymorphic variants of these genes are associated with differences in the repair of carcinogen-induced DNA damage and may influence an individual risk of cancer. Here we aimed to assess usefulness of analyses of genetic polymorphism of several DNA repair genes for determination of individual risk for head and neck cancer and colon cancer.

We have analyzed two groups of tumor-bearing individuals (50 patients with head and neck squamous cell carcinoma and 50 patients with colon cancer) and healthy controls (100 healthy donors). Genetic polymorphism were determined in genomic DNA isolated from blood cells using PCR-RFLP method. We have analyzed following polymorphic variants: (1) Asp to Asn substitution in codon 312 and (2) Lys to Gln substitution in codon 751 of the protein XPD, (3) Asp to Glu substitution in codon 148 of the APE1 protein, (4) Glu to Gln substitution in codon 185 of the NBS1 protein, (5) Arg to Gln substitution in codon 399 of XRCC1 protein, and (6) Ser to Cys substitution in codon 326 of the hOGG1 protein. To validate significance of detected differences in polymorphic variant distribution between healthy donors and patient groups we used the Fisher-Freeman-Halton permutation test.

When frequencies of particular genotype variants were compared among different groups several statistically significant differences have been found. We have observed that heterozygotic genotype at XPD 312 (Asp/Asn) and heterozygotic genotype at APE1 148 (Asp/Glu) were more frequent in group of patients with colon cancer as compared to healthy individuals (p=0,002 and p=0,003, respectively). The data indicate that these genotypes might be a risk factor for colon cancer (OR=0.79 and OR=1.87, respectively). We have also observed that homozygotic genotype at APE1 148 (Glu/Glu) and homozygotic genotype at XRCC1 399 (Gln/Gln) were absent in group of patients with head and neck cancer. This suggest that the presence of the 148 Asp allele of APE1 and the 399 Arg allele of XRCC1 are risk factors for head and neck cancer (OR=2.15 and OR=3.21, respectively).

The project was supported by the Ministry of Science and Higher Education, grant 2P05B12630.

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