Table 5.
Germline MMR gene VUSs that were observed in at least one individual with consistent IHC according to IHC pattern.
| Observed variants | Individuals carrying the variants | |||||
|---|---|---|---|---|---|---|
| IHC pattern | Total | Downgraded to Benign/Likely Benign |
Upgraded to Pathogenic/Likely Pathogenic |
Total | Downgraded to Benign/Likely Benign |
Upgraded to Pathogenic/Likely Pathogenic |
| Typical | ||||||
| MLH1; PMS2 | 42 | 22 (52.4%) | 5 (11.9%) | 40 | 22 (55.0%) | 5 (12.5%) |
| MSH2; MSH6 | 21 | 9 (42.9%) | 4 (19.0%) | 20 | 8 (40.0%) | 4 (20.0%) |
| MSH6 | 28 | 8 (28.6%) | 1 (3.6%) | 24 | 8 (23.3%) | 1 (4.2%) |
| PMS2 | 18 | 10 (55.6%) | 4 (22.2%) | 15 | 9 (60.0%) | 4 (26.7%) |
| MLH1 | 6 | 1 (16.7%) | 1 (16.7%) | 5 | 1 (20.0%) | 1 (20.0%) |
| MSH2 | 2 | 1 (50.0%) | 1 (50.0%) | 2 | 1 (50.0%) | 1 (50.0%) |
| Atypical a | 15 | 8 (44.4%) | 1 (6.7%) | 15 | 8 (44.4%) | 1 (6.7%) |
| Total | 132 | 59 (44.7%) | 17 (12.9%) | 121 | 57 (47.1%) | 17 (14.0%) |
a
Atypical IHC patterns are listed in Table 2 .