GNA11 mutations in melanoma
The present invention provides methods of detecting mutations in a GNA11 gene in a melanocytic neoplasm for diagnostic and prognostic purposes. The invention further provides methods of treating such melanocytic neoplasm by modulating the activity of the mutated GNA11 gene.
1. A method of detecting an activating mutation in a GNA11 gene in a human melanoma patient that has a melanoma, wherein the melanoma is a uveal melanoma or a malignant blue nevus, the method comprising:
contacting a nucleic acid sample from the melanoma with a probe that selectively hybridizes to a mutant GNA11 codon 209 that has a mutation CAG>CTG, CAG>CCG, CAG>CTA, or CAG>CTT; and
detecting hybridization of the probe to the mutant GNA11 codon 209 that has a mutation CAG>CTG, CAG>CCG, CAG>CTA, or CAG>CTT.
2. The method of claim 1 , wherein the sample is from eye or skin.
3. The method of claim 1 , wherein the sample is from lymph node, lung, liver, adrenal gland, soft tissue, or bone.
4. The method of claim 1 , wherein the melanoma is uveal melanoma.
5. The method of claim 1 , wherein the melanoma is a malignant blue nevus.