Interpretation 347
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Variants
Interpretation
This gene is often mutated in uveal melanoma. A frequent mutation in GNAS/QNA11 (Q209) can promote disease progression. Combined mTOR/PI3K and MEK inhibition is showing promises in preclinical studies.
Citations
- Van Raamsdonk CD, et al. Frequent somatic mutations of GNAQ in uveal melanoma and blue naevi. Nature 2009;457(7229):599-602
- Van Raamsdonk CD, et al. Mutations in GNA11 in uveal melanoma. N Engl J Med 2010;363(23):2191-9
- Lamba S, et al. Mutational profile of GNAQQ209 in human tumors. PLoS One 2009;4(8):e6833
- 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
- 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
Last updated: 2017-01-20 03:38:46 UTC