Prevalence of the I1307K APC gene variant in Israeli Jews of differing ethnic origin and risk for colorectal cancer

Gastroenterology. 1999 Jan;116(1):54-7. doi: 10.1016/s0016-5085(99)70228-3.


Background & aims: Israeli Jews of European birth, i.e., Ashkenazim, have the highest colorectal cancer incidence of any Israeli ethnic group. The I1307K APC gene variant was found in 6.1% of American Jews, 28% of their familial colorectal cancer cases, but not in non-Jews. We assessed the I1307K prevalence in Israeli Jews of differing ethnic origin and risk for colorectal cancer.

Methods: DNA samples from 500 unrelated Jews of European or non-European origin, with or without a personal and/or family history of neoplasia, were examined for the I1307K variant by the allele-specific oligonucleotide (ASO) method.

Results: In persons at average risk for colorectal cancer, I1307K was found in 5.0% of 120 European and 1.6% of 188 non-European Jews (P = 0.08). It occurred in 15.4% of 52 Ashkenazi Israelis with familial cancer (P = 0.02) and was not detected in 51 non-European Jews at increased cancer risk. Colorectal neoplasia occurred personally or in the families of 13 of 20 Ashkenazi I1307K carriers, 8 of whom also had a personal or family history of noncolonic neoplasia.

Conclusions: The I1307K APC variant may represent a susceptibility gene for colorectal, or other, cancers in Ashkenazi Jews, and partially explains the higher incidence of colorectal cancer in European Israelis.

MeSH terms

  • Adenomatous Polyposis Coli Protein
  • Colorectal Neoplasms / ethnology
  • Colorectal Neoplasms / genetics*
  • Cytoskeletal Proteins / genetics*
  • DNA / genetics
  • Female
  • Gene Frequency*
  • Genes, APC*
  • Humans
  • Israel / epidemiology
  • Jews
  • Male
  • Mutation
  • Risk Factors


  • Adenomatous Polyposis Coli Protein
  • Cytoskeletal Proteins
  • DNA