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Keywords:

  • I1307K;
  • APC;
  • HNPCC;
  • hMLH1;
  • colorectal cancer;
  • Ashkenazi Jewish

We describe a French Canadian hereditary non-polyposis colorectal cancer (HNPCC) kindred which carries a novel truncating mutation in hMLH1. Interestingly, the I1307K APC polymorphism, associated with an increased risk of colorectal cancer, is also present in this family. The I1307K polymorphism has previously only been identified in individuals of self-reported Ashkenazi Jewish origins. In addition, in this family, there appears to be no relationship between the I1307K polymorphism and the presence or absence of cancer.