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Gene Symbol PTEN
Synonyms 10q23del | BZS | CWS1 | DEC | GLM2 | MHAM | MMAC1 | PTEN1 | PTENbeta | PTENgama | TEP1
Gene Description PTEN, phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase and dual-specificity protein phosphatase PTEN, is a tumor suppressor (PMID: 30562755) with roles in the cell cycle, growth, DNA repair, cell survival and regulation of the Akt-mTOR pathway (PMID: 24656806, PMID: 30145641). PTEN germline mutations are common in Cowden syndrome (PMID: 30562755) and PTEN somatic alterations resulting in loss of function have been found in many types of cancer including, but not limited to endometrial (PMID: 30142194), melanoma (PMID: 30148988), and prostate (PMID: 18767981, PMID: 30153654).
ACMG Incidental List v3.0:
Yes, PTEN hamartoma tumor syndrome (PMID: 34012068)

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