Patients | Immunohistochemistry (lack of expression) | MSI status | Germline mutational analysis |
---|---|---|---|
Group A | 1 PMS2 | 1 MSI-H | No deleterious mutation§ |
No family history | 1 PMS2 | 1 MSI-H | No deleterious mutation* |
3 MLH1, PMS2 | 3 MSS | No deleterious mutation | |
1 normal | 1 MSI-H | No deleterious mutation* | |
Group B with Am.II Criteria | 8 MLH1 | 8 MSI-H | 7 MLH1 deleterious mutation |
1 missense VUS** | |||
7 MSH2 | 7 MSI-H | 7 MSH2 deleterious mutation | |
1 MSH2*** | 1 MSI-H | 1 MLH1 deleterious mutation | |
1 PMS2 | 1 MSI-H | 1 MLH1 deleterious mutation | |
2 Normal | 2 MSI-H | 2 MSH2 deleterious mutation | |
1 NE**** | 1 MSI-H | 1 MSH2 deleterious mutation | |
1 MSH2, MSH6 | 1 MSI-H | No deleterious mutation | |
4 MLH1 | 4 MSS | No deleterious mutation | |
1 MLH1, PMS2 | 1 MSS | No deleterious mutation | |
1 MSH2, MSH6 | 1 MSS | No deleterious mutation | |
Group C | 7 normal | 7 MSS | |
Family history without Amsterdam II Criteria |