Work

Comparative analysis of the GNAQ , GNA 11 , SF 3B1 , and EIF 1 AX driver mutations in melanoma and across the cancer spectrum

Year: 2016

Type: article

Abstract: Uveal melanoma is characterized by recurrent mutations in GNAQ, GNA11, SF3B1, and EIF1AX, as well as a low total mutational burden. The frequency and clinical significance of these mutations in non-uveal melanoma and other cancers is not well described. We identified that GNAQ/GNA11 mutations occur in 0.5–1% of non-uveal melanomas and are essentially melanoma-specific. Further, these mutations are associated with a lack of other typical melanoma mutations (BRAF, NRAS, KIT, NF1), a low mutational burden, and, in a small subset, lack of response to immunotherapy. We suggest that GNAQ/GNA11 mutations characterize an uncommon but distinct subtype of non-uveal melanomas.

Source: Pigment Cell & Melanoma Research

DOI: 10.1111/pcmr.12482