title: The APC p.I1307K polymorphism is a significant risk factor for CRC in average risk Ashkenazi Jews.
abstract: BACKGROUND
  The p.I1307K adenomatous polyposis coli (APC) gene variant, prevalent among Ashkenazi Jews, may increase the risk for colorectal neoplasia. We studied the clinical importance of screening for this polymorphism in 3305 Israelis undergoing colonoscopy.
  
  
  METHODS
  Clinical data regarding potential risk factors for colorectal cancer (CRC) were collected from individuals undergoing colonoscopic examination at the Tel-Aviv medical center. The APC p.I1307K was detected using real-time PCR (polymerase chain reaction) from DNA extracted from peripheral mononuclear cells.
  
  
  RESULTS
  The overall prevalence of the p.I1307K polymorphism was 8.0% (10.1% among Ashkenazi and 2.7% among Sephardic Jews, p<0.001). The overall adjusted odds ratio (OR) for colorectal neoplasia among carriers was 1.51 (95% confidence intervals (CI), 1.16-1.98). Among average risk Ashkenazi Jews, the adjusted OR was 1.75 (95% CI 1.26-2.45). A multiplicative interaction was identified between Ashkenazi ethnicity and APC p.I1307K carrier status (P(INTERACTION) = 0.055). The histopathological features of adenomas and carcinomas did not differ between carriers and non-carriers.
  
  
  CONCLUSIONS
  The APC p.I1307K gene variant is an important risk factor for colorectal neoplasia in average risk Ashkenazi Jews. Carriers in this group should be considered for screening colonoscopy at the age of 40, to be repeated every 5 years, similar to recommendations in individuals with family history of colorectal cancer.
authors.affiliation: The Integrated Cancer Prevention Center, Tel-Aviv Sourasky Medical Center, Tel-Aviv, Israel; Department of Medical Oncology, Sheba Medical Center, Tel-Aviv, Israel.
authors.forename: Ben
authors.initials: B
authors.lastname: Boursi
authors.forename: Tal
authors.initials: T
authors.lastname: Sella
authors.forename: Eliezer
authors.initials: E
authors.lastname: Liberman
authors.forename: Shiran
authors.initials: S
authors.lastname: Shapira
authors.forename: Maayan
authors.initials: M
authors.lastname: David
authors.forename: Diana
authors.initials: D
authors.lastname: Kazanov
authors.forename: Nadir
authors.initials: N
authors.lastname: Arber
authors.forename: Sarah
authors.initials: S
authors.lastname: Kraus
mesh_terms: D000328:Adult; D000368:Aged; D016022:Case-Control Studies; D015179:Colorectal Neoplasms / Q000453:epidemiology / Q000208:ethnology / Q000235:genetics*; D005260:Female; D017491:Genes, APC; D020022:Genetic Predisposition to Disease / Q000208:ethnology; D006579:Heterozygote; D006801:Humans; D007557:Israel / Q000453:epidemiology; D007585:Jews / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide; D012307:Risk Factors
keywords: APC; Colorectal cancer; Polymorphism; Prevention; p.I1307K