Optimizing diagnosis, surveillance, and management of hereditary polyposis syndromes

Abstract

Colorectal cancer (CRC) is a major cause of death in Western countries. Most CRCs are preceded by adenomatous polyps. Patients with certain germline genetic defects develop multiple colorectal polyps and have consequently an extremely high risk of developing CRC. This thesis describes several clinical aspects of various hereditary polyposis syndromes, including familial adenomatous polyposis (FAP), MUTYH-associated polyposis (MAP), and PTEN hamartoma tumor syndrome (PHTS), and provides recommendations for clinical management of these syndromes.