Furthermore, among the 14 samples where IHC result showed incomplete loss of MMR protein expression (e.g., loss of MSH6 expression in 50% of tumor cells and intact expression of MLH1/PMS2/MSH2) or was inconsistent with PCR results (e.g., IHC-dMMR but PCR-MSS), NGS identified 7 NGS-MSI-H cases with the highest variability of the tested microsatellites and the highest frameshift burden in the tested coding sequence (Additional file 1: Table S7). The gene discussed is MSH6; the disease is neoplasm.