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PTEN
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Interpretation 209
Tier 2
PTEN
Variants
Primary Sites
Kidney
Tumor Types
Clear Cell Renal Cell Carcinoma
Renal Cell Carcinoma
Interpretation

PTEN is an obligate haplo-insufficient tumor suppressor gene and is mutated in a large number of cancers. It encodes a phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase. It negatively regulates intracellular levels of phosphatidylinositol-3,4,5-trisphosphate in cells and functions as a tumor suppressor by negatively regulating AKT/mTOR signaling pathway. PTEN mutations are loss-of-function mutations and occur in 1% to 5% of ccRCCs. Recent studies suggest that only biallelic loss, resulting from deletion and/or inactivating mutations, is associated with an adverse outcome in ccRCCs. Whether PTEN alterations predict for responsiveness to mTORC1 inhibitors is less certain at this time.

Citations
  1. Lee HJ, et al. Prognostic significance of biallelic loss of PTEN in clear cell renal cell carcinoma. J Urol 2014;192(3):940-6
  2. Brugarolas J Molecular genetics of clear-cell renal cell carcinoma. J Clin Oncol 2014;32(18):1968-76
Last updated: 2016-01-20 20:54:58 UTC
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When using PMKB, please cite: Huang et al., JAMIA 2017


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