Ontology highlight
ABSTRACT:
SUBMITTER: Khater F
PROVIDER: S-EPMC6484687 | biostudies-literature | 2019 Apr
REPOSITORIES: biostudies-literature
Khater Fida F Langlois Sylvie S Cassart Pauline P Roy Anne-Marie AM Lajoie Mathieu M Healy Jasmine J Richer Chantal C St-Onge Pascal P Piché Nelson N Perreault Sebastien S Cellot Sonia S Marzouki Monia M Jabado Nada N Sinnett Daniel D
Oncogene 20181221 16
Pilocytic astrocytoma (PA) is emerging as a tumor entity with dysregulated RAS/RAF/MEK/ERK signaling. In this study, we report the identification of a novel recurrent BRAF insertion (p.V504_R506dup) in five PA cases harboring exclusively this somatic tandem duplication. This recurrent alteration leads to an addition of three amino acids in the kinase domain of BRAF and has functional impact on activating MAPK phosphorylation. Importantly, we show that this mutation confers resistance to RAF inhi ...[more]