Concordance of Multi-Gene Panel Testing with Prior Microsatellite Instability and Immunohistochemistry Analyses.
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.
Authors: Carin Espenschied; Kory Jasperson; Heather Hampel; Patrick Reineke; Tina Pesaran; Ian M Frayling