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AKT1
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Interpretation 415
Tier 2
AKT1
Variants
AKT1 E17K
Primary Sites
Bladder
Tumor Types
Urothelial Carcinoma
Interpretation

AKT1 mutations have been reported in a variety of tumor types such as endometrial, lung, breast, colorectal, ovarian, urothelial and prostate cancers. The mutations are mutually exclusive from PIK3CA mutations. Increased expression and activation of AKT1 observed in many cancers is caused by a variety of different mechanisms including genomic alterations of AKT1, PIK3CA, PTEN, RAS family members, or growth factor receptors. Gain-of-function alterations of AKT1 can lead to neoplastic transformation in model systems, and is a potential target for therapeutic strategies. The E17K variant is by far the most frequent AKT1 mutation reported, implicating it as an important tumor promoting event.

Citations
  1. Askham JM, et al. AKT1 mutations in bladder cancer: identification of a novel oncogenic mutation that can co-operate with E17K. Oncogene 2010;29(1):150-5
  2. Vivanco I, et al. The phosphatidylinositol 3-Kinase AKT pathway in human cancer. Nat Rev Cancer 2002;2(7):489-501
  3. Davies MA Regulation, role, and targeting of Akt in cancer. J Clin Oncol 2011;29(35):4715-7
Last updated: 2017-06-23 14:53:18 UTC
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When using PMKB, please cite: Huang et al., JAMIA 2017


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