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GNA11
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Interpretation 325
Tier 1
GNA11
Variants
Primary Sites
Eye
Tumor Types
Melanoma
Interpretation

This gene is often mutated in uveal melanoma (Van Raamsdonk, et al. 2010). A frequent mutation in GNA11 (Q209) can promote disease progression. Combined mTOR/PI3K and MEK inhibition is showing promises in preclinical studies (Khalili et al, 2012). In addition, a randomized, open-label, phase 2 clinical trial comparing selumetinib vs chemotherapy showed selumetinib resulted in a modestly improved progression-free survival and response rate; however, no improvement in overall survival was observed. Improvement in clinical outcomes was accompanied by a high rate of adverse events (Carvajal et al, 2014). Also, GNAQ and GNA11 mutations occur in 9.5% of mucosal melanoma and are associated with poor prognosis (Sheng et al, 2016).

Citations
  1. Van Raamsdonk CD, et al. Mutations in GNA11 in uveal melanoma. N Engl J Med 2010;363(23):2191-9
  2. Ho AL, et al. Impact of combined mTOR and MEK inhibition in uveal melanoma is driven by tumor genotype. PLoS One 2012;7(7):e40439
  3. Khalili JS, et al. Combination small molecule MEK and PI3K inhibition enhances uveal melanoma cell death in a mutant GNAQ- and GNA11-dependent manner. Clin Cancer Res 2012;18(16):4345-55
  4. Carvajal RD, et al. Effect of selumetinib vs chemotherapy on progression-free survival in uveal melanoma: a randomized clinical trial. JAMA 2014;311(23):2397-405
  5. Sheng X, et al. GNAQ and GNA11 mutations occur in 9.5% of mucosal melanoma and are associated with poor prognosis. Eur J Cancer 2016;65():156-63
Last updated: 2017-01-08 19:17:13 UTC
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When using PMKB, please cite: Huang et al., JAMIA 2017


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