FAMILIAL ADENOMATOUS POLYPOSIS - DESMOID TUMORS AND LACK OF OPHTHALMIC LESIONS (CHRPE) ASSOCIATED WITH APC MUTATIONS BEYOND CODON-1444

An earlier study has shown that FAP patients with mutations in codons 136-302 of the APC gene do not develop congenital hypertrophy of the r etinal pigment epithelium (CHRPE), whereas those with mutations in cod ons 463-1387 regularly do. Here we present data on 36 patients from 20 families with mutations in codons 1445-1578. These patients lack CHRP E. Furthermore, with the exception of three prepubertal children all p atients with mutations in codons 1445-1578 developed desmoid tumours. This relationship between certain extracolonic manifestations and site of the APC mutation points to a specific role of the APC protein in d ifferent tissues.