Article
Cancer Risk Associated With PTEN Pathogenic Variants Identified Using Multigene Hereditary Cancer Panel Testing.
JCO precision oncology - 1 Jan 2023
Cummings Shelly, Alfonso Andrew, Hughes Elisha, Kucera Matt, Mabey Brent, Singh Nanda, Eng Charis
Abstract excerpt
PURPOSE: PTEN-associated clinical syndromes such as Cowden syndrome (CS) increase cancer risk and have historically been diagnosed based upon phenotypic criteria. Because not all patients clinically diagnosed with CS have PTEN pathogenic variants (PVs), and not all patients with PTEN PVs have been clinically diagnosed with CS, the cancer risk conferred by PTEN PVs calculated from cohorts of patients with clinical...
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