Table 2 Comparison of mutation profiles in microsatellite instability-high cases with discordant versus concordant immunohistochemical mismatch repair protein expression results.
Number of cases with MMR gene mutations | Discordant MMR IHC | Concordant MMR IHC | P value |
|---|---|---|---|
Pathogenic somatic missense mutations | 16 | 6 | 0.02 |
Pathogenic germline missense mutations | 9 | 1 | 0.01 |
Total cases with pathogenic missense mutations | 25 | 7 | 0.0001 |
Truncating germline mutations | 7 | 4 | 0.51 |
Truncating somatic mutations | 20 | 18 | 0.64 |
Total cases with truncating mutations | 27 | 22 | 0.2 |
