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Updated: Aug 21, 2026

Characterize Disease-related Mutants of RAF Family Kinases by Using a Set of Practical and Feasible Methods
07:49

Characterize Disease-related Mutants of RAF Family Kinases by Using a Set of Practical and Feasible Methods

Published on: July 17, 2019

Mutation analysis of the Ras pathway genes NRAS, HRAS, KRAS and BRAF in glioblastomas

Christiane B Knobbe1, Julia Reifenberger, Guido Reifenberger

  • 1Department of Neuropathology, Heinrich-Heine-University, Moorenstrasse 5, 40225 Düsseldorf, Germany.

Acta Neuropathologica
|November 2, 2004
PubMed

Insights

Activating mutations in NRAS or BRAF contribute to aberrant Ras signaling in a small fraction of glioblastoma (GBM) cases. This study screened 94 GBMs for Ras family gene mutations.

Area of Science:

  • Oncology
  • Molecular Biology
  • Genetics

Background:

  • Aberrant Ras signaling pathway activation is frequently observed in human glioblastomas.
  • Ras gene mutations are a potential contributor to this aberrant signaling.

Purpose of the Study:

  • To investigate the contribution of Ras family gene mutations (NRAS, KRAS, HRAS) to aberrant Ras signaling in glioblastomas.
  • To analyze mutations in BRAF, a key downstream effector of Ras signaling.

Main Methods:

  • Screening of 94 glioblastoma samples for mutations in NRAS, KRAS, and HRAS coding regions.
  • Analysis of BRAF hot-spot mutations.
  • Assessment of EGFR, PDGFRA gene amplification, and PTEN alterations.

Main Results:

  • Somatic point mutations in NRAS codon 12 (p.G12D) were identified in two glioblastomas.
  • BRAF mutations (p.V599E) were found in three glioblastomas.
  • PTEN alterations were observed in three tumors, including those with NRAS or BRAF mutations. No EGFR or PDGFRA amplification was detected in these cases.

Conclusions:

  • Activating mutations in NRAS or BRAF represent a molecular alteration contributing to aberrant Ras signaling in a subset of glioblastomas.
  • These findings highlight NRAS and BRAF as potential targets for glioblastoma therapy.

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