Table 2 Comparison of germline mutations (WES) and immunohistochemical (IHC) staining of tumor tissues for MMR genes
From: Germline variants in patients from the Iranian hereditary colorectal cancer registry
IHC finding | WES-IHC agreement | WES-IHC no agreement | Total | |||
|---|---|---|---|---|---|---|
All | Mutations in Lynch-related genes | All | Mutations in Lynch-related genes | Mutations in non-Lynch genes | ||
Loss of MLH1 and PMS2 | 10.63% (5) | MLH1 (1) | 23.40% (11) | - | SMAD4 (1), SUFU (1), ATM (1), CDH1 (1), CTSA (1), PTCH2 (1), DIS3L2 (1), COL6A3 (1), BCR (1), No Mutation (2) | 34.04% (16) |
Loss of MSH6 and PMS2 | - | - | 4.25% (2) | MLH1 (1) | RNF4 (1) | 4.25% (2) |
Loss of MSH2 and PMS2 | - | - | 2.12% (1) | - | POLD1 (1) | 2.12% (1) |
Loss of MSH2 and MSH6 | 19.14% (9) | MSH2 (8), MSH6 (1) | 6.38% (3) | - | RB1 (1), GALN12 (1), WRN (1) | 25.53% (12) |
Loss of PMS2 | 2.12% (1) | - | 10.63% (5) | MLH1 (2) | PMS1 (1), MLH3 (1), No Mutation (1) | 12.76% (6) |
Loss of MSH2 | - | - | 2.12% (1) | - | MSH3 (1) | 2.12% (1) |
Loss of MLH1 | 2.12% (1) | - | 4.25% (2) | - | EPHA3 (1), DICER1 (1) | 6.38% (3) |
Loss of MSH6 | - | - | 4.25% (2) | MSH2 (1) | FH (1) | 4.25% (2) |
Normal | - | - | 8.51% (4) | MSH6 (1) | PDGFRL (1), TTN (1), TENM3 (1) | 8.51% (4) |
Total | 34.04% (16) | Â | 65.95% (31) | Â | Â | 47 |