Calculations using the algorithms of Wijnen et al1 to determine the probabilities of finding a germline MLH1 or MSH2 mutation in 28 mutation carrier probands
Patient | Mean age of diagnosis of CRC in the family | Fulfilment of Amsterdam criteria | Endometrial cancer in the family | No of patients with CRC | No of patients with endometrial cancer | No of family members with verified cancer status | p1 | p2 |
(A) Limited pedigrees (proband and first degree relatives) | ||||||||
c35 | 49 | No | No | 2 | 0 | 6 | 3 | 11 |
c54 | 36 | No | No | 1 | 0 | 4 | 10 | 24 |
c64 | 53 | No | No | 2 | 0 | 5 | 2 | 8 |
c125 | 52 | No | No | 2 | 0 | 9 | 2 | 9 |
c145 | 42 | Yes | Yes | 3 | 1 | 12 | 78 | 40 |
c219 | 50 | No | Yes | 1 | 1 | 7 | 13 | 16 |
c340 | 61 | No | Yes | 3 | 2 | 7 | 5 | 20 |
c430 | 38 | No | No | 2 | 0 | 4 | 8 | 25 |
c558 | 57 | No | Yes | 4 | 2 | 8 | 7 | 32 |
c564 | 45 | No | Yes | 2 | 1 | 7 | 19 | 28 |
c138 | 39 | No | No | 1 | 0 | 5 | 8 | 19 |
c275 | 55 | No | No | 2 | 0 | 9 | 2 | 7 |
c587 | 36 | No | Yes | 2 | 1 | 4 | 37 | 46 |
c614 | 50 | No | Yes | 3 | 2 | 6 | 13 | 40 |
c615 | 38 | No | No | 2 | 0 | 5 | 8 | 25 |
c661 | 54 | No | Yes | 1 | 1 | 6 | 9 | 12 |
c676 | 46 | No | Yes | 2 | 1 | 7 | 18 | 26 |
c698 | 43 | No | Yes | 1 | 1 | 6 | 22 | 26 |
c700 | 61 | No | No | 1 | 0 | 5 | 1 | 3 |
c811 | 54 | No | No | 2 | 0 | 14 | 2 | 7 |
c870 | 56 | No | No | 2 | 0 | 5 | 1 | 6 |
c899 | 50 | No | No | 2 | 0 | 6 | 3 | 10 |
c952 | 52 | No | Yes | 2 | 1 | 10 | 11 | 17 |
c953 | 45 | No | Yes | 6 | 3 | 9 | 19 | 83 |
c955 | 53 | No | No | 2 | 0 | 7 | 2 | 8 |
c1027 | 53 | No | No | 1 | 0 | 8 | 2 | 6 |
c1077 | 45 | Yes | No | 3 | 0 | 8 | 34 | 19 |
c1095 | 53 | Yes | Yes | 3 | 1 | 8 | 55 | 20 |
(B) Extended pedigrees | ||||||||
c35 | 47 | Yes | No | 4 | 0 | 24 | 30 | 21 |
c54 | 35 | No | No | 1 | 0 | 13 | 11 | 25 |
c64 | 53 | Yes | No | 4 | 0 | 24 | 10 | 16 |
c125 | 48 | Yes | No | 4 | 0 | 14 | 28 | 19 |
c145 | 56 | Yes | Yes | 13 | 3 | 85 | 48 | 93 |
c219 | 52 | No | Yes | 7 | 2 | 49 | 11 | 62 |
c340 | 56 | Yes | Yes | 5 | 2 | 33 | 48 | 40 |
c430 | 44 | Yes | Yes | 9 | 1 | 33 | 75 | 73 |
c558 | 57 | Yes | Yes | 5 | 3 | 39 | 45 | 57 |
c564 | 45 | Yes | Yes | 12 | 4 | 77 | 73 | 98 |
c138 | 38 | No | Yes | 1 | 1 | 8 | 32 | 35 |
c275 | 46 | Yes | Yes | 10 | 4 | 87 | 71 | 97 |
c587 | 42 | No | Yes | 3 | 1 | 14 | 24 | 40 |
c614 | 49 | No | Yes | 3 | 2 | 42 | 14 | 42 |
c615 | 40 | Yes | No | 3 | 0 | 16 | 46 | 27 |
c661 | 54 | No | Yes | 1 | 1 | 24 | 9 | 12 |
c676 | 44 | Yes | Yes | 12 | 4 | 74 | 75 | 98 |
c698 | 46 | Yes | Yes | 10 | 4 | 87 | 71 | 97 |
c700 | 49 | No | Yes | 13 | 5 | 97 | 14 | 99 |
c811 | 48 | Yes | No | 5 | 0 | 29 | 28 | 24 |
c870 | 56 | No | No | 2 | 0 | 20 | 1 | 6 |
c899 | 50 | No | No | 2 | 0 | 8 | 3 | 10 |
c952 | 64 | No | Yes | 3 | 1 | 11 | 3 | 8 |
c953 | 44 | Yes | Yes | 12 | 4 | 74 | 75 | 98 |
c955 | 47 | No | No | 3 | 0 | 25 | 4 | 17 |
c1027 | 43 | No | Yes | 2 | 1 | 20 | 22 | 31 |
c1077 | 44 | Yes | No | 7 | 0 | 46 | 37 | 43 |
c1095 | 53 | Yes | Yes | 3 | 1 | 12 | 55 | 20 |
p1 = probability of finding a germline mutation inMLH1 or MSH2.
p2 = probability of finding a germline mutation inMLH1 or MSH2; the alternative formula.