Concordance of Germline Multigene Panel Testing with Prior Microsatellite Instability and Immunohistochemistry Analyses in Endometrial Cancer Patients
Nearly half (47%) of all IHC results were discordant with germline MMR gene testing results.
The vast majority of these cases 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 where somatic mismatch repair gene testing may be useful.
Authors: Kory Jasperson; Carin Espenschied; Heather Hampel; Patrick Reineke; Tina Pesaran; Virginia Speare; Jessica Profato; Ian M Frayling