Polymorphisms in DNA repair genes resulting in variation of DNA repair efficiency may therefore be associated with cancer risk.
Aim of the study: In the present work the distribution of genotypes and frequency of alleles of the Lys751Gln polymorphism of XPD gene in subjects with breast cancer were investigated.
Material and methods: Genomic DNA isolated from 92 breast cancer patients and control (n=110) was used to genotype XPD Lys751Gln by means of polymerase chain reaction and restriction fragment length polymorphism (PCR-RFLP) analysis.
Results: The distribution of the genotypes of the Lys751Gln polymorphism of XPD in both control and patients did not differ significantly (p > 0.05) from those predicted by the Hardy-Weinberg distribution. There were no significant differences (p > 0.05) in genotype distributions and allele frequencies between subgroups assigned to histological stage.
Conclusions: The results suggest that the Lys751Gln polymorphism of XPD gene may not be linked with appearance and development of breast cancer.