The PTEN (phosphatase and tensin homolog) gene encodes a encodes a dual-specificity phosphatase th at functions as a tumor suppressor by inhibiting phosphoinositide-3-kinase–protein kinase B/Akt (PI3K/PKB/Akt) signaling pathway, a crucial regulator of cell growth and survival and by negatively regulating the interactions of cell with the extracellular matrix. Mutations in this gene have been associated with several human cancers. Germline mutations in this gene have also been linked to Cowden disease (CD), Lhermitte-Duclos disease (LDD) and Bannayan-Zonana syndrome (BZS), which are characterized by increased susceptibility to tumor formation and developmental defects.
