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BRAF
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Interpretation 109
Tier 1
BRAF
Variants
BRAF V600E
BRAF codon(s) 600 any
Primary Sites
Spinal Cord
Brain
Brain, Supratentorial
Brain, Infratentorial
Tumor Types
Glioblastoma
Pleomorphic Xanthoastrocytoma
Ganglioglioma
Neuroepithelial Neoplasm, NOS
Neuroepithelial neoplasm, high grade
Astrocytoma, NOS
Astrocytoma, Pilocytic
Interpretation

BRAF alterations have been described in a wide spectrum of brain tumors, including in gliomas and glioneuronal tumors. BRAFV600E mutations have been found in approximately 10--15% of pilocytic astrocytoma and in approximately 5--10% of pediatric diffusely infiltrating gliomas, including diffuse astrocytomas (WHO grade II), anaplastic astrocytomas (WHO grade III) and glioblastomas (WHO grade IV), but in less than 2% of comparable adult gliomas. This mutation is potentially targetable.

Citations
  1. Robinson et al ..Complete clinical regression of a BRAF V600Emutant pediatric glioblastoma multiforme after BRAF inhibitor therapy. BMC Cancer 2014, 14:258
  2. Chi et al..BRAF V600E Mutation Identifies a Subset of Low-Grade Diffusely Infiltrating Gliomas in Adults. Journal of Clinical Oncology, Vol 31, No 14 (May 10), 2013: pp e233-e236
  3. Schindler G, et al. Analysis of BRAF V600E mutation in 1,320 nervous system tumors reveals high mutation frequencies in pleomorphic xanthoastrocytoma, ganglioglioma and extra-cerebellar pilocytic astrocytoma. Acta Neuropathol.121(3),397–405 (2011).
Last updated: 2018-09-18 14:47:52 UTC
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When using PMKB, please cite: Huang et al., JAMIA 2017


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