title: Common NOD2/CARD15 variants are not associated with susceptibility or the clinicopathologic characteristics of sporadic colorectal cancer in Hungarian patients.
abstract: 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.
  
  
  CONCLUSIONS
  Our results suggest that common NOD2/CARD15 mutations alone do not contribute to CRC risk in the Hungarian population.
authors: 1st Department of Medicine, Semmelweis University, Budapest, Hungary. kislakpet@yahoo.com
authors: Peter Laszlo
authors: PL
authors: Lakatos
authors: Erika
authors: E
authors: Hitre
authors: Ferenc
authors: F
authors: Szalay
authors: Kerstin
authors: K
authors: Zinober
authors: Peter
authors: P
authors: Fuszek
authors: Laszlo
authors: L
authors: Lakatos
authors: Simon
authors: S
authors: Fischer
authors: Janos
authors: J
authors: Osztovits
authors: Orsolya
authors: O
authors: Gemela
authors: Gabor
authors: G
authors: Veres
authors: Janos
authors: J
authors: Papp
authors: Peter
authors: P
authors: Ferenci
mesh_terms: D000368:Aged; D015179:Colorectal Neoplasms / Q000235:genetics* / Q000473:pathology; D020022:Genetic Predisposition to Disease; D014644:Genetic Variation; D006801:Humans; D006814:Hungary; D043183:Irritable Bowel Syndrome / Q000235:genetics; D008875:Middle Aged; D009154:Mutation; D009367:Neoplasm Staging; D053473:Nod2 Signaling Adaptor Protein / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide; D012016:Reference Values
chemical_list: C429018:NOD2 protein, human; D053473:Nod2 Signaling Adaptor Protein