Adenomatous Polyposis Syndromes
Maegan E Roberts1, Josie Baker1, Peter P Stanich2
1Division of Human Genetics, Department of Internal Medicine, College of Medicine, The Ohio State University Wexner Medical Center, Columbus, OH, USA.
Abstract:
Adenomatous polyposis, defined clinically as the occurrence of 10 or more cumulative adenomatous colorectal polyps, is the most common form of polyposis. The phenotype may be classic with hundreds to thousands of polyps or attenuated with less than 100 polyps. Genetic counseling and multi-gene panel testing that includes at least all known adenomatous polyposis syndromes should be completed for either presentation. This article summarizes the established and emerging genetic etiologies of adenomatous polyposis, highlights current challenges in diagnosis and management, and discusses advances in genetic testing and potential targeted therapies.
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