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Background  Epidemiological observations suggest that cancer arises from chronically inflamed tissues. Inflammatory bowel disease (IBD) is a typical example as patients with longstanding IBD are at an increased risk for developing colorectal cancer (CRC) and mutations of the  NOD2/CARD15  gene increase the risk for Crohn's disease (CD). Recently,  NOD2/CARD15  has been associated with a risk for CRC in some studies, which stemmed from ethnically diverse populations. Our aim was to identify common  NOD2/CARD15  mutations in Hungarian patients with sporadic CRC.    Methods  A total of 194 sporadic CRC patients (m/f: 108/86, age at diagnosis of CRC: 63.2 ± 9.1 years old) and 200 healthy subjects were included. DNA was screened for SNP8, SNP12 and SNP13  NOD2/CARD15  mutations by denaturing-HPLC and confirmed by direct sequencing.    Results   NOD2/CARD15  mutations were found in 28 patients (14.4%) and in 23 controls (11.5%, p = NS). Allele frequencies for  SNP8/R702W  (1.8% vs. 1.5%)  SNP12/G908R  (1.8% vs. 1.8%) and  SNP13/3020insC  (3.6% vs. 2.5%) were also not statistically different between patients and controls. The clinicopathologic characteristics of CRC patients with or without  NOD2/CARD15  mutations were not significantly different.    Conclusion  Our results suggest that common  NOD2/CARD15  mutations alone do not contribute to CRC risk in the Hungarian population.

bmc cancer

Common NOD2/CARD15 variants are not associated with susceptibility or the clinicopathologic characteristics of sporadic colorectal cancer in Hungarian patients