Concordance of Multi-Gene Panel Testing with Prior Microsatellite Instability and Immunohistochemistry Analyses.

Session:
#126
Date:
Friday, Oct 20, 2017 5:30pm – 7:00pm
Conference:
CGA-ICC 2017
Authors:
Carin Espenschied, Heather Hampel, Ian M Frayling, Kory Jasperson, Patrick Reineke, Tina Pesaran, MA, MS, CGC
  • Nearly 25% of MSI and/or IHC results were discordant with germline MMR gene testing results.
  • The vast majority of these had abnormal MSI/IHC with no germline mutation identified.
  • These results may help guide clinicians on what to expect from multigene panel testing in patients with a particular MSI/IHC results and suggest scenarios when somatic mismatch repair gene testing may be useful.