Table 1.
Phenotypic characteristics of families
| Family | Individuals with CRC | CRC ages | Polyp ages (and numbers) | MSI-V | BRAF CRC | Hyperplastic and adenomatous polyps | Individuals with multiple hyperplastic polyps under 60 (ages) | Evidence of linkage to Region 1 |
|---|---|---|---|---|---|---|---|---|
| 1 | 3 | 45, 53, 74 | 63 (1), 53 (3), 51 (2), 57 (2), 46 (1) | Yes | Yes | Yes | 1 (57) | Yes |
| 2aa | 3 | 25a, 31a, 32 | 29 (1), 53 (1) | No | No | Yes | 0 | Yes |
| 2ba | 8 | 25a, 31a, 54, 72, 53, 65, 63, 52 | 57 (10), 53 (2), 63 (1) | No | Yes | Yes | 1 (57) | No |
| 3 | 4 | 52, 65, 67, 70 | 71(1), 66 (1), 65 (7), 55 (11), 60 (2), 49 (1) | No | No | Yes | 1 (55) | No |
| 4 | 4 | 37, 44, 58, 62 | 37 (2), 57 (11), 51 (4), 58 (5) | No | No | Yes | 3 (51, 57, 58) | No |
| 5 | 4 | 31, 47, 52, 59 | 49 (1), 38 (1), 45 (2), 50 (7), 28 (1) | Yes | No | Yes | 1 (50) | Yes |
| 6 | 3 | 43, 53, 74 | 53 (6), 43 (4), 52 (4) | Yes | Yes | Yes | 2 (52, 53) | Yes |
| 7 | 4 | 31, 39, 50, 61 | 49 (2), 31 (2) | No | No | Yes | 1 (49) | No |
| 8 | 3 | 27, 57, 60 | 52 (1) | Yes | Yes | Yes | 0 | Yes |
| 9 | 3 | 54, 59, 76 | 54 (2), 75 (1), 50 (1) | Yes | No | Yes | 0 | No |
| 10 | 2 | 55, 62 | 58 (2), 65 (6) | Yes | No | Yes | 1 (58) | Yes |
| 11 | 4 | 48, 53, 74, 85 | 85 (2), 48 (5), 50 (3), 51 (17), 53 (6) | Yes | Yes | Yes | 2 (48, 51) | Yes |
MSI-V variable levels of MSI between lesions
aFamilies 2a and 2b are branches of the same family which were analysed separately due to independent segregation of affected status. Two individuals with CRC were included as part of both families