start of the project: January 2008
Familial adenomatous polyposis (FAP) is an autosomal dominant inherited disorder characterised by the early onset of hundreds to thousands of adenomatous polyps throughout the colon. If left untreated, all patients with this syndrome will develop colon cancer by the age of 35-40 years. In addition, an increased risk exists for the development of other malignancies, mainly affecting the gastrointestinal tract. The genetic defect in FAP is a mutation in the adenomatous polyposis coli (APC) gene (autosomal dominant form) or the MUTYH gene (autosomal recessive form). The estimated prevalence of FAP in Europe is between 1/10,000 and 1/40,000. In most cases, the risk of colorectal cancer can be only eliminated by a timely planned prophylactic colectomy. Although FAP causes only about 1% of all cases of colorectal cancer, it is a very important topic for patients and their families, and a specialised care based on an effective multidisciplinary cooperation at the local, national and international levels is required.
The low incidence of FAP requires not only centralisation of care to facilities with enough experience of this issue, but also sharing data on FAP patients, preferably at both national and international levels. The history of national registries dates back to 1924 (St Mark’s Hospital in London); nowadays, most developed countries have their own registries of FAP patients.
Primary objective of the project:
Secondary objective of the project:
Other important information: