Genetic factors and colorectal cancer in Ashkenazi Jews

Fam Cancer. 2004;3(3-4):215-21. doi: 10.1007/s10689-004-9547-x.


The observed increased incidence of colorectal cancer in Ashkenazi Jews compared to other populations is unexplained but likely has a genetic component. The I1307K APC polymorphism/mutation is carried by 6-8% of Ashkenazim and increases the risk of colorectal cancer 1.5-2 fold. There are few differences between the phenotype of colorectal cancer in I1307K carriers and sporadic cases. It is estimated that the mutation accounts for 6% of cases of colorectal cancer in Jews of Eastern European heritage. It should not be the subject of mass screening in Ashkenazi Jews, although it may be important in cases of familial colorectal cancer. Even rarer is the 1906G-->C MSH2 mutation carried by less than 1% of Ashkenazim, but as with other HNPCC mutations likely associated with a high risk of malignancy. Mutations at 15q13-14 are associated with the colorectal adenoma and carcinoma syndrome (CRAC) described in Ashkenazi families. The prevalence of the mutation is not known, nor its significance as a cause of colorectal cancer. Despite the paucity of genetic explanations for the high risk of colorectal cancer in Ashkenazim, that risk warrants aggressive colorectal cancer screening and particular attention to family history of malignancy in all Jews of Ashkenazi descent.

Publication types

  • Comparative Study
  • Review

MeSH terms

  • Adult
  • Age Distribution
  • Aged
  • Alleles
  • Colorectal Neoplasms / ethnology*
  • Colorectal Neoplasms / genetics*
  • Female
  • Genes, APC*
  • Genetic Drift
  • Genetic Markers / genetics
  • Genetic Predisposition to Disease / ethnology*
  • Humans
  • Incidence
  • Jews / genetics*
  • Male
  • Middle Aged
  • Polymorphism, Genetic*
  • Prognosis
  • Risk Assessment
  • Sex Distribution
  • Survival Analysis


  • Genetic Markers