A novel AKT3 mutation in melanoma tumours and cell lines

M. A. Davies, K. Stemke-Hale, C. Tellez, T. L. Calderone, W. Deng, V. G. Prieto, A. J.F. Lazar, J. E. Gershenwald, G. B. Mills

    Research output: Contribution to journalArticle

    200 Scopus citations


    Recently, a rare activating mutation of AKT1 (E17K) has been reported in breast, ovarian, and colorectal cancers. However, analogous activating mutations in AKT2 or AKT3 have not been identified in any cancer lineage. To determine the prevalence of AKT E17K mutations in melanoma, the most aggressive form of skin cancer, we analysed 137 human melanoma specimens and 65 human melanoma cell lines for the previously described activating mutation of AKT1, and for analogous mutations in AKT2 and AKT3. We identified a single AKT1 E17K mutation. Remarkably, a previously unidentified AKT3 E17K mutation was detected in two melanomas (from one patient) as well as two cell lines. The AKT3 E17K mutation results in activation of AKT when expressed in human melanoma cells. This represents the first report of AKT mutations in melanoma, and the initial identification of an AKT3 mutation in any human cancer lineage. We have also identified the first known human cell lines with naturally occurring AKT E17K mutations.

    Original languageEnglish (US)
    Pages (from-to)1265-1268
    Number of pages4
    JournalBritish Journal of Cancer
    Issue number8
    StatePublished - Oct 21 2008


    • AKT
    • Melanoma
    • Mutation

    ASJC Scopus subject areas

    • Oncology
    • Cancer Research

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    Davies, M. A., Stemke-Hale, K., Tellez, C., Calderone, T. L., Deng, W., Prieto, V. G., Lazar, A. J. F., Gershenwald, J. E., & Mills, G. B. (2008). A novel AKT3 mutation in melanoma tumours and cell lines. British Journal of Cancer, 99(8), 1265-1268. https://doi.org/10.1038/sj.bjc.6604637