Table 2

MSI and IHC results among probands who had MSI and/or IHC testing

Molecular tumour characteristicsTotalNo mutation MLH1 MSH2 MSH6
N (%)N (%)N (%)N (%)N (%)
Total1651 (100)1412 (85.5)90 (5.5)125 (7.6)24 (1.5)
MSI result
 Stable/low* 819 (59.0)810 (65.8)2 (3.2)6 (7.9)1 (6.2)
 High568 (41.0)422 (34.2)61 (96.8)70 (92.1)15 (93.8)
 Total1387 (100)1232 (100)63 (100)76 (100)16 (100)
IHC result
MLH1 (N=1576)366 (23.2)288/1349 (21.3)78/84 (92.8)0 (0)0 (0)
MSH2 (N=1592)170 (10.7)54/1360 (4.0)0 (0)116/121§ (95.9)0 (0)
MSH6 (N=1448)165 (11.4)53/1234 (4.3)0 (0)95/108 (87.9)17/24 (70.8)
PMS2 (N=908)257 (28.3)196/748 (26.2)61/62 (98.4)0 (0)0 (0)
  • * MSI-low: total=335, no Mutation=330, MLH1=0, MSH2=5, MSH6=0.

  • Abnormal IHC results shown (based on abnormal versus normal/inconclusive categories).

  • Of 90 MLH1 mutation carriers, 84 had IHC testing for MLH1 protein expression.

  • § Of 125 MSH2 mutation carriers, 121 had IHC testing for MSH2 protein expression.

  • IHC, immunohistochemistry; MSI, microsatellite instability.