Table 3.
Expected or unexpected germline pathogenic variants (PVs) identified among individuals tested with the six-gene panel, distributed by IHC pattern and type of variant.
| Tested Individuals | ||||
|---|---|---|---|---|
| IHC pattern | Total | With PV N (%) |
Individuals with PV in expected
a
MMR gene N (% of 703) |
Individuals with PV in unexpected a MMR gene N (% of 703) |
| Typical | ||||
| MLH1/PMS2 | 265 | 31 (11.7) | 28 (10.6%) | 3 (1.1%) |
| MSH2/MSH6 | 103 | 33 (32.0) | 31 (30.1%) | 2 (1.9%) |
| MSH6 | 92 | 42 (45.7) | 42 (45.7%) | 0 (0%) |
| PMS2 | 72 | 23 (31.9) | 23 (31.9%) | 0 (0%) |
| MLH1 | 40 | 5 (12.5) | 3 (7.5%) | 2 (5%) |
| MSH2 | 24 | 10 (41.7) | 5 (20.8%) | 5 (20.8%) |
| Atypical b | 107 | 19 (17.8) | 18 (16.8%) | 1 (0.9%) |
| Total | 703 | 163 (23.2) | 150 (21.3%) | 13 (1.8%) |
a
Based on IHC result.
b
Atypical IHC patterns are listed in Table 2 .