Gastrointestinal polyposis syndromes for the general gastroenterologist. Issue 1 (14th June 2013)

• Record Type: Journal Article
• Authors: Hurley, Joanna J; Ewing, Iain; Sampson, Julian R; Dolwani, Sunil
• Is Part Of: Frontline gastroenterology. Volume 5:Issue 1(2014)
• Page Start: 68
• Page End: 76
• Publication Date: 2013-06-14
• Subjects: Genetics -- Genetic Testing -- Colorectal Cancer Genes -- Polyposis; Gastroenterology -- Periodicals; 616.33005
• DOI: 10.1136/flgastro-2013-100327
• Languages: English
• ISSNs: 2041-4137

Abstract

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.