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Curriculum based clinical reviews
Gastrointestinal polyposis syndromes for the general gastroenterologist
  1. Joanna J Hurley1,2,
  2. Iain Ewing3,
  3. Julian R Sampson2,
  4. Sunil Dolwani1
  1. 1Department of Gastroenterology, University Hospital Llandough, Penarth, UK
  2. 2Insitute of Medical Genetics, Cardiff University, Cardiff, UK
  3. 3Department of Gastroenterology, North Middlesex University Hospital, London, UK
  1. Correspondence to Dr Joanna J Hurley, Department of Gastroenterology, University Hospital Llandough, Penlan Road, Penarth CF64 2XX, UK; Joanna.hurley{at}wales.nhs.uk

Abstract

The occurrence of colonic polyps is a common phenomenon; however, where there are numerous adenomas or other polyps, and/or the patient is at a relatively young age, an inheritable form of gastrointestinal polyposis should be considered. Patients can present via different referral routes, for example, at colonoscopy where multiple polyps are detected, following a personal diagnosis of colorectal cancer, or by family screening. This article outlines the important considerations in the diagnosis of a polyposis syndrome and key diagnostic features to consider. It will also describe the underlying genetic factors associated with the common polyposis syndromes, including classical familial adenomatous polyposis (FAP), attenuated FAP, MUTYH-associated adenomatous polyposis, Peutz–Jeghers syndrome, juvenile polyposis syndrome, Cowden syndrome and serrated polyposis, and the subsequent management of each condition.

  • Genetics
  • Genetic Testing
  • Colorectal Cancer Genes
  • Polyposis

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