Background: The risk of sporadic colorectal cancer can be associated with environmental and lifestyle factors that may be sources of physical and chemical carcinogens, modulated by products of many low penetrance genes. Polymorphisms of DNA repair genes may influence variation in individual DNA repair capacity, which is crucial for preventing genomic instability, which, in turn, may be associated with risk of cancer. XRCC1 is an essential protein for the base excision repair pathway which primarily deals with DNA base modifications, arisen spontaneously or as a consequence of the action of environmental factors.
Aim: To perform a case-control study and test the association between two polymorphisms in the XRCC1 gene: Arg194Trp and Arg399Gln and colorectal cancer risk and progression.
Methods: Genotypes were determined in DNA from peripheral blood lymphocytes of 100 colorectal cancer patients and 100 age, sex and ethnic-matched cancer-free controls by PCR RFLP.
Results: We found that both polymorphisms of the XRCC1 gene were not associated with risk and progession of colorectal cancer in a Polish population. Moreover, there was not such association form the Arg194Trp/Arg399Gln haplotypes.
Conclusion: The Arg194Trp and Arg399Gln polymorphisms of the XRCC1 gene may not be associated with colorectal cancer in Polish population.