Colorectal polyps in carriers of the APC I1307K polymorphism

Dis Colon Rectum. 2005 Dec;48(12):2317-21. doi: 10.1007/s10350-005-0167-9.


Purpose: The probability of colorectal cancer is moderately increased among carriers of the APC I1307K polymorphism. However, it is not known if endoscopic surveillance of this high-risk group is warranted. The prevalence of polyps and adenomas in specimens of colorectal cancer who are carriers and noncarriers of the APC I1307K polymorphism is compared.

Method: Prevalence of adenomatous polyps in the pathology specimens of the study participants, stratified by their APC I1307K polymorphism status, was studied in 900 consecutive cases of colorectal cancer diagnosed in northern Israel between 1998 and 2002, within the framework of a population-based, case-controlled study (MECC Study).

Results: The APC I1307K mutation was detected in 78 colorectal cancer cases (8.7 percent) of the study population. Prevalence was higher among Ashkenazi Jews (11.2 percent) than among non-Ashkenazi Jews (2.7 percent) or Arabs (3.1 percent). After adjustment for age, APC I1307K carriers were significantly more likely than noncarriers to have polyps in their surgical specimen (51.3 percent vs. 32.6 percent, P = 0.002). Adenomas with a tubular component (either tubular adenomas or tubulovillous adenomas), but not villous adenomas, were significantly more frequent among carriers (37.2 percent vs. 23.6 percent, P = 0.005).

Conclusion: Together with former evidence of I1307K being a risk factor for colorectal cancer, these data suggest that colonoscopic surveillance for colorectal adenomas and cancer may be warranted in I1307K carriers, even in the absence of other identifiable risk factors.

MeSH terms

  • Adenoma / epidemiology
  • Adenoma / genetics*
  • Case-Control Studies
  • Colonic Polyps / epidemiology
  • Colonic Polyps / genetics*
  • Colonoscopy
  • Colorectal Neoplasms / epidemiology
  • Colorectal Neoplasms / genetics*
  • Female
  • Genes, APC*
  • Heterozygote
  • Humans
  • Jews / genetics
  • Male
  • Polymorphism, Genetic*
  • Prevalence
  • Risk Factors