MMR status in proband | Tumour site in FDR | No of observed cancers | No of expected cancers | RR | p Value* |
---|---|---|---|---|---|
MMR, mismatch repair; FDR, first degree relative; RR, relative risk; HNPCC, hereditary non-polyposis colorectal cancer. | |||||
*p values for RR>1 only; | |||||
†Normal expression of hMLH1 and hMSH2. | |||||
HNPCC sites include stomach, pancreas, uterus, ovary, colon, rectum, kidney, and gall bladder | |||||
All CRCs | Stomach | 50 | 42.1 | 1.18 | 0.13 |
Pancreas | 13 | 21.1 | 0.61 | – | |
Uterus | 14 | 16.0 | 0.88 | – | |
Ovary | 10 | 20.3 | 0.49 | – | |
Gall bladder | 4 | 3.8 | 1.04 | 0.53 | |
Kidney | 5 | 14.7 | 0.34 | – | |
Colon/rectum | 164 | 100.52 | 1.63 | <0.0001 | |
HNPCC sites | 260 | 218.4 | 1.19 | 0.003 | |
MMR competent† | Stomach | 47 | 38.7 | 1.21 | 0.11 |
Pancreas | 11 | 19.3 | 0.57 | – | |
Uterus | 10 | 14.6 | 0.68 | – | |
Ovary | 9 | 18.6 | 0.48 | – | |
Gall bladder | 3 | 3.5 | 0.85 | – | |
Kidney | 5 | 13.5 | 0.37 | – | |
Colon/rectum | 155 | 92.2 | 1.68 | <0.0001 | |
HNPCC sites | 240 | 200.3 | 1.19 | 0.004 | |
hMSH2 deficient | Stomach | – | – | – | – |
Pancreas | – | – | – | – | |
Uterus | 2 | 0.08 | 25.00 | <0.0001 | |
Ovary | – | – | – | – | |
Gall bladder | – | – | – | – | |
Kidney | – | – | – | – | |
Colon / rectum | 2 | 0.74 | 2.70 | 0.17 | |
HNPCC sites | 4 | 1.54 | 2.59 | 0.07 | |
hMLH1 deficient | Stomach | 3 | 3.12 | 0.96 | 0.56 |
Pancreas | 2 | 1.59 | 1.26 | 0.47 | |
Uterus | 2 | 1.3 | 1.54 | 0.14 | |
Ovary | 1 | 1.6 | 0.64 | – | |
Gall bladder | 1 | 0.3 | 3.33 | 0.26 | |
Kidney | – | – | – | – | |
Colon/rectum | 7 | 7.6 | 0.92 | 0.20 | |
HNPCC sites | 16 | 16.5 | 0.97 | 0.40 |