Braf Fusion Gene (BRAF)

The duplications resulted in 3 different in-frame fusion genes containing most 5-prime exons of the KIAA1549 gene and several 3-prime exons of the BRAF gene. All breakpoint variants were expected to encode functionally similar proteins containing the C-terminal kinase domain of BRAF without the N-terminal BRAF autoregulatory domain. Similar to wildtype KIAA1549, which produces a short variant through the use of an internal promoter, PCR analysis detected both long and short variants of the KIAA1549/BRAF fusion transcript. COS-7 cells transfected with either long or short KIAA1549/BRAF fusion transcripts showed constitutive BRAF kinase activity, and NIH3T3 cells transfected with the short KIAA1549/BRAF fusion transcript showed anchorage-independent growth.