Targeting PTEN and TSC Alterations

    • PTEN (phosphatase and tensin homolog) is a lipid phosphatase that removes phosphate on the three position of PIP3 and converts it back to PIP2.
    • Loss of PTEN function is common in human cancer and is associated to unrestrained signaling by the PI3K pathway. It can be identified via immunohistochemistry (IHC) or fluorescent in situ hybridization (FISH).
    • Germ-line mutations in the PTEN gene are associated with inherited cancer predisposition syndromes collectively known as PTEN hamartoma tumor syndromes (PHTS) (e.g., Cowden and Bannayan–Riley–Ruvalcaba syndrome); individuals with PHTS have an increased nce of breast, thyroid, and endometrial cancers.
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