Abstract
The X-ray repair cross-complementing group 1 (XRCC1) gene is believed to play an important role in base excision repair and displays genetic polymorphisms. Data on the role of XRCC1 polymorphisms in cancer susceptibility is inconsistent. In the present study, we investigated the effect of two XRCC1 polymorphisms, Arg194Trp and Arg399Gln, on breast cancer risk in a case- control study involving Turkish breast cancer patients and healthy women. Both alleles exhibited a similar distribution among cases and controls leading to lack of any significant association between the XRCC1 polymorphisms and breast cancer risk, either in homozygotes and heterozygotes or combined. The allele frequency of the codon 194 variant was very low in cases and healthy individuals (5.3 and 3.9%, respectively) compared to that of the variant 399Gln allele (39.7 and 37.4%). Our results do not support evidence for a role of the XRCC1 polymorphism in developing breast cancer.
Highlights
Breast cancer is the most prevalent common malignancy among women and the incidence is still increasing
We investigated the effect of two polymorphisms in the X-ray repair cross-complementing group 1 (XRCC1) gene on breast cancer risk in a Turkish breast cancer population
Studies investigating the association between polymorphisms and breast cancer risk have led to contradictory results
Summary
Breast cancer is the most prevalent common malignancy among women and the incidence is still increasing. Amino acid substitutions in the DNA repair genes as result of genetic polymorphisms may lead to alterations in DNA repair capacity and affect the susceptibility to cancer. The Arg399Gln polymorphism occurs within the BRCT-1 domain while the Arg194Trp leads to an amino acid substitution in the hydrophobic region of the protein. Since amino acid substitutions in the active sites may result in reduced efficiency to repair DNA damage these polymorphisms may confer increased risk to breast cancer. Data from studies investigating the association of the XRCC1 polymorphisms with breast cancer risk are inconsistent (Duell et al, 2001; Kim et al, 2002; Moullan et al, 2003; Shu et al, 2003; Smith et al, 2003a; b). We investigated the effect of two polymorphisms in the XRCC1 gene on breast cancer risk in a Turkish breast cancer population
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