Common polymorphism in DNA repair genes may alter protein function and an individual's capacity to repair damaged DNA; deficits in repair capacity may lead to genetic instability and carcinogenesis.
Aim of the study: In the present work the distribution of genotypes and frequency of alleles of the Arg194Trp and Arg399Gln polymorphism of XRCC1 and Arg415Gln polymorphism in ERCC4/XPF in subjects with breast cancer were investigated.
Material and methods: Blood samples were obtained from 100 women with breast cancer and control (n = 106). The polymorphisms were determined by PCR-RFLP.
Results: The distribution of the genotypes of the Arg194Trp and Arg399Gln polymorphism of XRCC1 and Arg415Gln polymorphism of ERCC4/XPF 9 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 Arg194Trp andArg399Gln polymorphism of XRCC1 gene as well as Arg415Gln polymorphism in ERCC4/XPF may not be linked with appearance and development of breast cancer.