Phenotypic Characteristics Associated With the <EMPH TYPE="ITAL">APC</EMPH> Gene I1307K Mutation in Ashkenazi Jewish Patients With Colorectal Polyps

Abstract

The frequency of the APC I1307K mutation is elevated in Ashkenazi Jewish patients with adenomatous polyps, but not hyperplastic polyps. The I1307K mutation represents a novel paradigm for cancer-predisposing genes, as it is associated with moderately increased risk of neoplasia without other associated distinguishing phenotypic features. JAMA. 2000;284:857-860