Table 1

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)
c3549NoNo206311
c5436NoNo10410 24
c6453NoNo20528
c12552NoNo20929
c14542YesYes3112 78 40
c21950NoYes1171316
c34061NoYes3275 20
c43038NoNo2048 25
c55857NoYes4287 32
c56445NoYes21719 28
c13839NoNo105819
c27555NoNo20927
c58736NoYes214 37 46
c61450NoYes32613 40
c61538NoNo2058 25
c66154NoYes116912
c67646NoYes21718 26
c69843NoYes116 22 26
c70061NoNo10513
c81154NoNo201427
c87056NoNo20516
c89950NoNo206310
c95252NoYes21101117
c95345NoYes63919 83
c95553NoNo20728
c102753NoNo10826
c107745YesNo3083419
c109553YesYes318 55 20
(B) Extended pedigrees
c3547YesNo4024 30 21
c5435NoNo101311 25
c6453YesNo40241016
c12548YesNo4014 28 19
c14556YesYes13385 48 93
c21952NoYes724911 62
c34056YesYes5233 48 40
c43044YesYes9133 75 73
c55857YesYes533945 57
c56445YesYes12477 73 98
c13838NoYes118 32 35
c27546YesYes10487 71 97
c58742NoYes3114 24 40
c61449NoYes324214 42
c61540YesNo3016 46 27
c66154NoYes1124912
c67644YesYes12474 75 98
c69846YesYes10487 71 97
c70049NoYes1359714 99
c81148YesNo5029 28 24
c87056NoNo202016
c89950NoNo208310
c95264NoYes311138
c95344YesYes12474 75 98
c95547NoNo3025417
c102743NoYes2120 22 31
c107744YesNo7046 37 43
c109553YesYes3112 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.