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PTEN
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Interpretation 301
Tier 3
PTEN
Variants
PTEN any frameshift
PTEN any deletion
PTEN any missense
Primary Sites
Stomach
Tumor Types
Adenocarcinoma
Interpretation

PTEN is an obligate haplo-insufficient tumor suppressor gene and is commonly mutated in a large number of cancers. It negatively regulates intracellular levels of Phosphatidylinositol (3,4,5)-trisphosphate (PIP3) in cells and functions as a tumor suppressor by negatively regulating AKT/mTOR signaling pathway. PTEN mutations have been reported in up to 19% of gastric cancers. Germline mutations in PTEN are also responsible for Cowden disease, a rare autosomal dominant multiple-hamartoma syndrome. Patients with Cowden disease can have gastric polyps, but a possible association with gastric cancer needs further study. Inactivation of PTEN is shown to be closely associated with tumor progression and metastases. Clinical trials using PI3K-beta inhibitor are available for patients with PTEN-deficient tumors.

Citations
  1. Keniry M, et al. The role of PTEN signaling perturbations in cancer and in targeted therapy. Oncogene 2008;27(41):5477-85
  2. Kang YH, et al. Promoter methylation and silencing of PTEN in gastric carcinoma. Lab Invest 2002;82(3):285-91
  3. Pilarski R, et al. Cowden syndrome and the PTEN hamartoma tumor syndrome: systematic review and revised diagnostic criteria. J Natl Cancer Inst 2013;105(21):1607-16
  4. Matsuoka T, et al. The Role of PI3K/Akt/mTOR Signaling in Gastric Carcinoma. Cancers (Basel) 2014;6(3):1441-63
  5. Wen YG, et al. Mutation analysis of tumor suppressor gene PTEN in patients with gastric carcinomas and its impact on PI3K/AKT pathway. Oncol Rep 2010;24(1):89-95
Last updated: 2016-10-11 21:49:10 UTC
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When using PMKB, please cite: Huang et al., JAMIA 2017


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