Abstrakt:
Reports published in the past several years have not provided conclusive evidence regarding a relationship between the development of colorectal cancer and NOD2 gene mutations, though some geographic variability has been shown. The goal of the current project was to analyze the frequency of selected NOD2 gene variants, including P286S, R702W, G908R, and 1007fs, in the Polish population of patients with rectal cancer. Fifty-one rectal cancer patients undergoing treatment were included in the study. As a control group to provide a reference point for NOD2 polymorphism in the population, DNA obtained from cord blood collected from the placenta of 100 patients immediately after parturition was used. It was found that the aforementioned mutations were more frequent among the colorectal cancer patients and that the presence of the 1007fs variant might also be associated with young patient age. The analysis of the material does not allow presenting a conclusive answer as to whether the 1007fs, G908R, and R702W mutations or P268S polymorphism contribute to the development of sporadic colorectal cancer in the Polish population. Patients in some populations could likely benefit from instituting earlier colorectal cancer screening studies following the detection of the 1007fs mutation.
