Gene PTEN
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Also known as
Phosphatase and Tensin Homolog, MMAC1, TEP1Overview
PTEN (Phosphatase and Tensin Homolog) is one of the most important tumor suppressor genes in humans. It encodes a phosphatase enzyme that negatively regulates the PI3K/AKT signaling pathway, which controls cell growth, proliferation, and survival. PTEN dephosphorylates phosphatidylinositol (3,4,5)-trisphosphate (PIP3), thereby antagonizing PI3K and preventing excessive cell growth and division. Beyond its tumor suppressor function, PTEN also plays roles in neuronal development, synaptic plasticity, and cellular metabolism.Germline mutations in PTEN cause PTEN hamartoma tumor syndrome (PHTS), which includes several overlapping conditions such as Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome. These autosomal dominant disorders are characterized by multiple benign hamartomas, macrocephaly, developmental delays, and significantly increased risks of breast, thyroid, endometrial, and other cancers. Somatic PTEN mutations are also among the most common alterations in sporadic cancers, including glioblastoma, prostate cancer, and endometrial cancer. Genetic testing for PTEN mutations is crucial for cancer risk assessment and surveillance strategies in affected individuals and their families.