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© 1995 Oxford University Press

RESEARCH-ARTICLE

Familial adenomatous polyposis: desmoid tumours and lack of ophthalmic lesions (CHRPE) associated with APC mutations beyond codon 1444

Reiner Caspari*,{dagger}, Sylciane Olschwang1,2,*,{dagger}, Waltraut Friedl, Marion Mandl, Cécile Boisson2, Thorsten Böker3, Albert Augustin3, Martina Kadmon4, Gabriela Möslein5, Gilles Thomas1,2 and Peter Propping

Institut för Humangenetik, Universität Bonnn Wilhelmstr, 31, 53111 Bonn, Germany 1Laboratoire de Génétique des Tumeurs CJF9201 Rue d'Ulm, 75005 Paris, France 2Unité de Génétique Oncologique, Institut Curie Rue d'Ulm, 75005 Paris, France 3Augenklink Universitãt Bonn Sigmund-Freud-Str. 25, 53105 Bonn 4Chirurgische Klinik, Universität Heidelberg Im Neuenheimer Feld 110, 69120 Heidelberg 5Chirurgische Klinik, Universität Dösseldorf Moorenstr. 5, 40225 Düsseldorf, Germany

*To whom correspondence should be addressed

Received September 30, 1994; Revised December 22, 1994; Accepted December 22, 1994

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 retinal pigment epithelium (CHRPE), whereas those with mutations in codons 463–1387 regularly do. Here we present data on 36 patients from 20 families with mutations in codons 1445–1578. These patients lack CHRPE. Furthermore, with the exception of three prepubertal children all patients 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 different tissues.

{dagger}These authors contributed equally to this work


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