Activation of mTORC1 in hamartoma syndromes and spontaneous tumors

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06/29/23

Activation of mechanistic Target OF Rapamycin Complex 1 (mTORC1) in hamartoma syndromes and spontaneous tumors.

In tumor cells of patients with congenital hamartoma syndromes such as Cowden syndrome (CS), tuberous sclerosis complex (TSC) syndrome and Peutz-Jeghers syndrome, the phosphatidylinositol 3-kinase (PI3K) and the mammalian target of rapamycin complex 1 (mTORC1) are overactivated. Major reasons for their dysregulation are inactivating mutations in tumor suppressor genes that code for PTEN, TSC1/TSC2 or LKB1, which are negative regulators of PI3K/mTORC1 signaling.

#onkoview, #Cowdensyndrome, #tuberous sclerosis complex, #mutations, #tumor, #PTEN, #mTORC1, #PI3K, #rapamycin complex