A comparison of the phenotype and genotype in adenomatous polyposis patients with and without a family history.

Objectives: Adenomatous polyposis of the colon is often secondary to an inherited mutation in adenomatous polyposis coli (APC) gene, however, approximately one third of patients have no family history of the disease. We studied the phenotype and genotype of adenomatous polyposis in patients without a family history.

Methods: A cohort of 57 unrelated adenomatous polyposis patients were evaluated.