Clinical features and genotype-phenotype correlations in 41 Italian families with adenomatosis coli.

In patients with Familial Adenomatous Polyposis, subtotal colectomy with ileorectal anastomosis is still the treatment of choice. Adenomatous lesions seem to show a "gradient" distribution from the stomach to the large bowel. Desmoid tumours are relatively common, though their incidence is limited to some of the families. Constitutional mutations can be detected in 80% of the investigated families. Genotype-phenotype correlations showed a hot-spot at codons 1303-1309, frequently associated with severe polyposis.