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Ref Type Journal Article
PMID (30575814)
Authors Khater F, Langlois S, Cassart P, Roy AM, Lajoie M, Healy J, Richer C, St-Onge P, Piché N, Perreault S, Cellot S, Marzouki M, Jabado N, Sinnett D
Title Recurrent somatic BRAF insertion (p.V504_R506dup): a tumor marker and a potential therapeutic target in pilocytic astrocytoma.
Journal Vol Issue Date Pages Journal Short Title
Oncogene 38 16 2019 04 2994-3002 Oncogene
URL
Abstract Text 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 inhibitors without changing effectiveness while downstream MEK inhibitors remain effective. Our results further emphasize the importance of BRAF alterations in PA and the need to characterize them in a given tumor as this can affect therapeutic strategies and their potential use as tumor marker in molecular diagnostics.

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