ACG Clinical Guideline: Genetic Testing and Management of Hereditary Gastrointestinal Cancer Syndromes

This is a clinical practice guideline for patients diagnosed with or at risk of hereditary gastrointestinal cancer syndromes including lynch syndrome, familial adenomatous polyposis (FAP), attenuated familial adenomatous polyposis (AFAP), MUTYH-associated polyposis (MAP), Peutz–Jeghers syndrome, juvenile polyposis syndrome, Cowden syndrome, serrated (hyperplastic) polyposis syndrome, hereditary pancreatic cancer, and hereditary gastric cancer. The guideline reviews initial assessment, genetic testing for a germline mutation when indicated, pre- and post-test genetic counselling, and management of patients who meet clinical criteria for a syndrome as well as those with identified pathogenic germline mutations. Outcomes of interest include cancer risk, quality of life, and survival benefit from surveillance.