New recommendations for harmartomatous polyposis syndrome

digestive system

Gastrointestinal hamartomatous polyposis syndromes are rare, hereditary disorders associated with an increased risk of colorectal cancer. The U.S. Multisociety Task Force on Colorectal Cancer has released new guidance for the diagnosis and management of patients with rare hamartomatous polyposis syndromes with a focus on endoscopic management.

The U.S. Multisociety Task Force on Colorectal Cancer recommends patients with two or more lifetime hamartomatous polyps, a family history of hamartomatous polyps, or a cancer associated with a hamartomatous polyposis syndrome in first or second-degree relative undergo genetic evaluation. If the patient and doctor determine genetic testing is warranted, it should be performed using a multigene panel test.

“Each hamartoma syndrome presents a different cancer risk and requires a different surveillance approach, making genetic testing a critical tool in cancer prevention,” says lead author Dr. C. Richard Boland, University of California-San Diego School of Medicine. “By understanding a patient’s unique genetic makeup, we can craft personalized cancer surveillance plans to prevent cancer progression and save lives.”

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