Hereditary Polyposis Syndromes: Opportunities for Early Detection in Individuals and Families

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Abstract

People with multiple polyps may have a germline mutation that places them at higher risk for developing colorectal, gastrointestinal, and other cancers. Genetic testing can often identify the specific polyposis syndrome and provide insight into appropriate recommendations for cancer prevention and early detection. Individuals with hereditary polyposis syndromes often begin developing polyps in their teenage years and require aggressive gastrointestinal surveillance to remove polyps. For some, the polyp burden will be too high to manage endoscopically and will require risk-reducing colectomies. Identification of individuals with hereditary polyposis syndromes may help to reduce morbidity and mortality. .