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Hereditary Gastrointestinal Polyposis Syndromes: A Review Including Newly Identified Syndromes

Aaron Ryan Huber, Jennifer J Findeis-Hosey and Christa L Whitney-Miller

There are multiple hereditary and non-hereditary polyposis syndromes that were originally categorized as adenomatous or hamartomatous. More recently, serrated polyps and their syndromes have been defined. Nearly all of these syndromes have a risk of colorectal cancer in the individuals and affected family members. Most of these syndromes are associated with extracolonic manifestations, including extracolonic tumors. The major clinical features, genetic mechanisms, and clinical management of Familial Adenomatous Polyposis (FAP), Peutz-Jeghers Syndrome (PJS), Juvenile Polyposis Syndrome (JPS), PTEN Hamartoma Syndrome (PTHS), and the more recently described syndromes MUTYH-Associated Polyposis, Hereditary Mixed Polyposis Syndrome, Serrated Polyposis Syndrome, and Polymerase Proofreading Associated Polyposis are summarized in this article.