Cancer Risk Study Calls for Organ-Specific Surveillance in Those With Risky PTEN Variants

In JAMA Network Open, a Cleveland Clinic Genomic Medicine Institute-led team follows cancer risk trajectories in children or young adults carrying risky germline variants in the cancer susceptibility gene PTEN. As part of a prospective longitudinal study, the researchers identified 701 individuals with risky germline PTEN risk variants, tracking outcomes in 260 of the individuals for between two and eight years. When it came to cancer risk, they saw a roughly 91 percent rise in the lifetime risk of breast cancer risk, along with a 48 percent boost in endometrial cancer risk and 30 percent kidney cancer risk and more modest increases in colorectal cancer or melanoma risk. The analyses also pointed to a jump in cancer risk for individuals with PTEN hamartoma tumor syndrome (PHTS), particularly those with additional neurodevelopmental symptoms. "These findings suggest that, according to the consistently demonstrated elevated lifetime cancer risks, organ-specific surveillance should continue in patients with germline PTEN variants," the authors write.