Table 1.
Diagnosis, microsatellite instability, c.31delC mutation and immunohistochemical analysis of ten affected and six healthy at risk relatives in the hereditary non-polyposis colorectal cancer (HNPCC) family
| Family member | Diagnosis | Histological data | MSI Analysis | c.31delC mutation | MLH1 expression |
| II-1 | Colon carcinoma | NT | NT | No | NT |
| II-3 | Colon carcinoma | + | NT | NT | NT |
| III-6 | Colon carcinoma | + | NT | NT | NT |
| III-7 | Colon carcinoma | + | MSI | Yes | NS |
| III-8 | Endometrial carcinoma | + | NT | Yes | NT |
| III-12 | Healthy, at risk | NT | NT | Yes | NT |
| IV-13 | Healthy, at risk | NT | NT | Yes | NT |
| IV-14 | Colon carcinoma | + | MSI | Yes | NS |
| IV-15 | Tubulovillous Adenoma | + | MSS | Yes | PS |
| IV-16 | Healthy, at risk | NT | NT | No | NT |
| IV-17 | Healthy, at risk | NT | NT | Yes | NT |
| IV-18 | Colon carcinoma | + | NT | Yes | NT |
| IV-19 | Healthy, at risk | NT | NT | No | NT |
| IV-20 | Healthy, at risk | NT | NT | No | NT |
| IV-21 | Mixed germ cell tumor | + | NT | NT | NT |
| IV-22 | Colon carcinoma | + | MSI | Yes | NS |
NT: not tested; +: available; MSI: microsatellite instability of the tumor; MSS: microsatellite stability of the tumor; Yes: mutation was present; No: mutation was absent; PS: positive staining; NS: negative staining.