WCMC logo
PMKB
  • WCMC logoPMKB
  • Genes
  • Variants
  • Interpretations
  • Tumor Types
  • Primary Sites
  • Activity
  • Login
SEPT14
  • Information
  • View History
  • Pending Review
Interpretation 252
Tier 2
SEPT14
Variants
SEPT14 copy number gain
Primary Sites
Brain, Supratentorial
Tumor Types
Glioblastoma
Interpretation

The SEPT14 gene has been described as a fusion partner with EGFR in up to 4% of glioblastomas. In that context, glioma cell lines harboring this gene fusion were found to be susceptible to EGFR inhibitors in vitro. The functional significance of an isolated partial amplification of this gene would be of uncertain significance. Detection of rearrangement of this locus with a fusion partner such as EGFR would require an alternative methodology such as RNAseq or FISH analysis.

Citations
  1. Frattini V, et al. The integrated landscape of driver genomic alterations in glioblastoma. Nat Genet 2013;45(10):1141-9
Last updated: 2016-03-31 14:04:37 UTC
PMKB Bot
  • Genes
  • Variants
  • Interpretations
  • Tumor Types
  • Primary Sites
  • Activity

Disclaimer: You assume full responsibility for all risks associated with using this PMKB website. The Englander Institute for Precision Medicine at Weill Cornell Medicine makes no guarantee of the comprehensiveness, reliability or accuracy of the information on this website and assumes no responsibility for errors in the information associated with this web site. Healthcare providers and patients must integrate all clinical and laboratory findings as well as information from a variety of sources before deciding on appropriate clinical care options.


When using PMKB, please cite: Huang et al., JAMIA 2017


HELP
User Guide
Video Tutorial
INFO
About
Latest
API
Twitter
CONTACT US
Contact

Englander Institute for Precision Medicine
© Weill Cornell Medicine | Version 1.7.2Privacy PolicyTerms of use