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Interpretation 372
Tier 2
EGFR
Variants
EGFR V774M
Primary Sites
Brain
Tumor Types
Glioblastoma
Interpretation

EGFR mutations have been reported in up to 21% of glioblastoma tumors (GBM). In GBM, EGFR mutations typically cluster in the extracellular domain and include in-frame deletions and missense mutations. However, mutations (such as V774M) in the tyrosine kinase domain of EGFR have been previously reported in GBM. The clinical significance of this mutation with regards to response to TKI therapy in GBM needs further elucidation. Results should be interpreted in conjunction with other laboratory and clinical findings.

Citations
  1. Brennan CW, et al. The somatic genomic landscape of glioblastoma. Cell 2013;155(2):462-77
  2. Lee JC, et al. Epidermal growth factor receptor activation in glioblastoma through novel missense mutations in the extracellular domain. PLoS Med 2006;3(12):e485
  3. Longo SL, et al. Bay846, a new irreversible small molecule inhibitor of EGFR and Her2, is highly effective against malignant brain tumor models. Invest New Drugs 2012;30(6):2161-72
  4. Vivanco I, et al. Differential sensitivity of glioma- versus lung cancer-specific EGFR mutations to EGFR kinase inhibitors. Cancer Discov 2012;2(5):458-71
Last updated: 2017-02-03 21:49:47 UTC
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When using PMKB, please cite: Huang et al., JAMIA 2017


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