Category 1—Amsterdam criteria I |
1 | 1 | Yes | MLH1 | Yes | 5 | MSI-H | MSI-H | 39, 52 | + |
2 | 1 | Yes | MLH1 | Yes | 5 | MSI-H | MSI-H | 28 | + |
3 | 2 | Yes | MLH1 | Yes | 3 | MSI-H | MSI-H | 49 | + |
4 | 3 | Yes | MSH2 | Yes | 5 | MSI-H | MSI-H | 35, 72, 75 | + |
5 | 4 | Yes | MSH2 | Yes | 2 | MSI-H | MSI-L | 65 + En55 | + |
6 | 5 | Yes | No | No | 0 | † | na | 38 | + |
7 | 6 | Yes | No | No | 0 | MSI-H | MS-S | 60 | + |
8 | 7 | Yes | No | No | 0 | MSI-H | MS-S | 42 | + |
9 | 8 | Yes | No | No | 1 | MS-S | MS-S | 57 | + |
10 | 9 | Yes | No | No | 0 | MS-S | MS-S | 44 | + |
11 | 10 | Yes | No | No | 1 | MS-S | MSI-H | 45 | + |
Category 2—Amsterdam criteria II |
12 | 11 | Yes | MLH1 | Yes | 3 | MSI-H | | 38, 54 | + |
13 | 12 | Yes | MSH2 | Yes | 1 | MSI-H | | 43 | + |
14 | 13 | Yes | No | No | 0 | MSI-L | | 70 | + |
15 | 14 | Yes | No | No | 0 | MS-S | | 31 | + |
16 | 4 | Yes | MSH2 | Yes | 2 | MSI-H | | 36, 58 | + |
17 | 15 | Yes | No | No | 0 | MS-S | | 49 | + |
Category 3—Amsterdam criteria I or II on extended pedigree |
18 | 16 | Yes | No | Yes | 2 | MS-S | | 46, 46, 46 | + |
Category 4—Amsterdam criteria including other HNPCC related cancer |
19 | 17 | Yes | No | No | 2 | MS-S | | 76 | |
20 | 18 | Yes | No | No | 0 | MS-S | | 82 | |
21 | 19 | Yes | No | No | 0 | MS-S | | 47 | |
22 | 20 | Yes | No | No | 1 | MSI-H | | 70 | |
23 | 21 | Yes | No | No | 0 | † | | 81 | |
24 | 22 | Yes | No | No | 0 | † | | 34 | |
25 | 23 | Yes | No | No | 1 | † | | 72 | |
26 | 24 | Yes | No | No | 0 | MS-S | | 75 | |
27 | 25 | Yes | No | Yes | 0 | MS-S | | 39, 62 | |
28 | 26 | Yes | No | Yes | 0 | MSI-L | | 49,52 | |
29 | 26 | No | na | Yes | 0 | MS-S | | 81 | |
30 | 27 | No | na | Yes | 0 | MS-S | | 73 | |
Category 5—Amsterdam criteria I (youngest family member with CRC 50–55 y at the time of diagnosis) |
31 | 28 | Yes | No | Yes | 0 | MS-S | | 52, 52 | |
32 | 29 | Yes | No | No | 0 | MS-S | | 52 | |
33 | 30 | Yes | No | No | 0 | MS-S | | 56 | |
34 | 31 | Yes | No | No | 1 | MS-S | | 81 | |
35 | 32 | Yes | No | No | 1 | † | | 81 | |
36 | 33 | No | na | No | 0 | MS-S | | 58 | |
Category 6—proband at age 40 y or younger with at least one CRC among family members |
37 | 34 | Yes | MSH2 | No | 0 | MSI-H | | 26 | + |
38 | 35 | Yes | No | No | 0 | † | | 34 | |
39 | 36 | Yes | No | No | 0 | MS-S | | 19 | |
40 | 37 | Yes | No | No | 0 | MS-S | | 40 | |
41 | 38 | Yes | No | No | 0 | MS-S | | 34 | |
Category 7—both proband and one first degree relative with CRC <55 y |
42 | 39 | Yes | MSH2 | No | 1 | MSI-H | | 52 | + |
43 | 40 | Yes | No | No | 1 | MS-S | | 53 | |
44 | 41 | Yes | No | No | 0 | MS-S | | 49 | |
45 | 42 | No | na | No | 1 | MS-S | | 49 | |