Nature 328, 614 - 616 (13 August 1987); doi:

Localization of the gene for familial adenomatous polyposis on chromosome 5

W. F. Bodmer^*, C. J. Bailey^*, J. Bodmer^†, H. J. R. Bussey^‡, A. Ellis^§, P. Gorman, F. C. Lucibello^*, V. A. Murday^¶, S. H. Rider, P. Scambler^£, D. Sheer, E. Solomon^** & N. K. Spurr^††

^* Director's Laboratory, Imperial Cancer Research Fund, Lincoln's Inn Fields, London WC2A 3PX, UK
^† Tissue Antigen, Imperial Cancer Research Fund, Lincoln's Inn Fields, London WC2A 3PX, UK
^** Somatic Cell Genetics, Imperial Cancer Research Fund, Lincoln's Inn Fields, London WC2A 3PX, UK
Human Cytogenetics Laboratories, Imperial Cancer Research Fund, Lincoln's Inn Fields, London WC2A 3PX, UK
^‡ Polyposis Registry, St Mark's Hospital, City Road, London EC1V 2PS, UK
^¶ ICRF Colorectal Unit, St Mark's Hospital, City Road, London EC1V 2PS, UK
^§ Gastroenterology Unit, Broadgreen Hospital, Liverpool L143LB, UK
^£ Department of Biochemistry, St Mary's Hospital Medical School, London W2 1PG, UK
^†† Human Genetic Resources Laboratory, ICRF Clare Hall Laboratories, Blanche Lane, South Mimms, Potters Bar, Hertfordshire EN6 3LD, UK

Colorectal cancer is the second most common cancer in the United Kingdom and other developed countries in the West. Although it is usually not familial, there is a rare dominantly inherited susceptibility to colon cancer, familial adenomatous polyposis (FAP; also often previously called familial polyposis coli). During adolescence affected individuals develop from a few hundred to over a thousand adenomatous polyps in their large bowel. These are sufficiently likely to give rise to adenocarcinomas to make prophylactic removal of the colon usual in diagnosed FAP individuals. Adenomas may occur elsewhere in the gastrointestinal tract and the condition is often associated with other extracolonic lesions, such as epidermoid cysts, jaw osteomata and fibrous desmoid tumours^1–4. Adenomata have been suggested to be precancerous states for most colorectal tumours^5,6. Knudson⁷ has suggested that the mutation for a dominantly inherited cancer susceptibility may be the first step in a recessive change in the tumour cells, and that the same gene may be involved in both familial and non-familial cases of a given tumour. Following up a case report of an interstitial deletion of chromosome 5 in a mentally retarded individual with multiple developmental abnormalities and FAP⁸, we have now shown that the FAP gene is on chromosome 5, most probably near bands 5q21–q22.