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Unexpected germline mismatch repair gene pathogenic variants found in individuals with different immunohistochemistry patterns.
| IHC pattern | Germline PV | ||||
|---|---|---|---|---|---|
| MLH1 | MSH2 | MSH6 | PMS2 | Total | |
| MLH1 | 0 | 2 | 0 | 0 | 2 |
| MLH1/MSH2/PMS2 | 0 | 0 | 1 | 0 | 1 |
| MLH1/PMS2 | 0 | 2 | 1 | 0 | 3 |
| MSH2 | 0 | 0 | 4 | 1 | 5 |
| MSH2/MSH6 | 1 | 0 | 0 | 1 | 2 |
| Total | 1 | 4 | 6 | 2 | 13 |
Monoallelic MUTYH PVs are provided in Supplemental Table 2 .
