Familial Adenomatous Polyposis or APC-Associated Polyposis

  • Maartje NielsenEmail author
  • Stephan Aretz


Familial adenomatous polyposis (FAP) or APC-associated polyposis is an autosomal dominant inherited syndrome caused by APC germline mutations. Most patients will develop hundreds of adenomatous polyps and thereby have a 100% risk of developing CRC during lifetime. Depending on the location of the mutation in the APC gene, a milder phenotype with usually less than 100 adenomas is also possible, called attenuated FAP (AFAP). Patients with AFAP also have a high risk of developing mostly benign, extracolonic manifestations. This chapter will discuss the genetic and clinical aspects, detection, extracolonic manifestations, and tumour characteristics of this polyposis syndrome.


Familial adenomatous polyposis APC-associated polyposis APC Polyposis AFAP 


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© Springer International Publishing AG, part of Springer Nature 2018

Authors and Affiliations

  1. 1.Department of Clinical GeneticsLeiden University Medical CentreLeidenThe Netherlands
  2. 2.Institute of Human Genetics, Center for Hereditary Tumor Syndromes, University of BonnBonnGermany

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