Genomic analysis of ameloblastomas identifies SMO and BRAF mutations that activate the pharmacologically accessible Hedgehog and MAP kinase signaling pathways . Homo sapiens

RNA-seq data from two cases of ameloblastoma was analyzed for candidate gene fusions and point mutations. Recurrent point mutations identified in the RNA-seq data, as well as mutations identified with limited panel targeted deep sequencing, were validated as somatic. Expanding to a larger cohort of 28, one of two activating mutations was found in 80% of cases. No recurrent gene fusions events were identified.