Familial adenomatous polyposis (FAP) is a well-defined autosomal dominant inherited disease characterised by a diffuse polyposis of the colon and rectum leading to inevitable colorectal cancer by 50 years. The purpose of this review is to summarize the current knowledge regarding this entity with the focus on recent knowledge on genetic testing, surveillance guidelines and therapy of FAP. Available medical databases were searched from 1998 to May 2003 using keywords "familial adenomatous polyposis", followed by further search for particular issues. Additional articles were identified through the reference sections of retrieved articles and from personal archives of authors. Approximately 300 papers on FAP are published yearly. There has been a large progress in our understanding of the genetics of FAP leading to the development of genetic counselling, reliable genetic tests and screening strategies. There is accumulating evidence about genotype-phenotype associations with direct clinical implications. Our knowledge about the extracolonic manifestations is also expanding resulting in new surveillance and treatment strategies for FAP patients after proctocolectomy. Although still representing a serious burden for affected patients and their families, the research of last decades together with national registers improved the life expectancy and the quality of life of FAP patients dramatically. Further research in the area of molecular genetics, genetic testing and emerging gene therapy for FAP patients is to be expected in the near future.

Keywords: Adenomatous Polyposis Coli /diagnosis/; Colonic Neoplasms /genetics/; Genetic Predisposition to Disease; Genetic Testing; Humans