Advanced adenomas may be a red flag for hereditary cancer syndromes.
Swati G PatelHeather HampelDerek SmithDexiang GaoMyles CockburnFay KastrinosPublished in: Hereditary cancer in clinical practice (2021)
5% of patients with advanced adenomas in our retrospective series had a pathogenic germline mutation in a cancer predisposition gene. Though the patient with a pathogenic mutation in MLH1 met current clinical criteria for genetic testing, this was not recognized prior to referral; he was referred based on a personal history of advanced adenoma. Advanced polyps may be a red flag to identify patients who are at risk for hereditary cancer syndromes.