Article
When overgrowth bumps into cancer: the PTEN-opathies.
American journal of medical genetics. Part C, Seminars in medical genetics - 1 May 2013
Mester Jessica, Eng Charis
Abstract excerpt
PTEN is a dual-specificity phosphatase and well-known tumor suppressor gene. When functioning properly, it works in its canonical pathway to inhibit AKT/mTOR and MAPK signaling, leading to cell death and growth regulation. PTEN mutations cause dysregulation of these pathways, resulting in cellular proliferation and overgrowth. When germline mutations are present as in patients with PTEN Hamartoma Tumor Syndrome...
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