Site (9th ICD codes) |
Carriers |
Non-carriers |
Unknown |
Estimated RR |
|||
Obs |
Exp |
Obs |
Exp |
Obs |
Exp |
||
Buccal cavity and pharynx (140-149) |
4 |
2.26 |
0 |
1.01 |
8 |
5.74 |
1.87 (P=.03) |
Oesophagus (150) |
1 |
0.89 |
0 |
0.35 |
2 |
2.25 |
0.34 |
Stomach (151) |
8 |
3.29 |
3 |
1.24 |
14 |
8.52 |
2.06 (P=.006) |
Colon (153) |
8 |
6.56 |
6 |
2.85 |
16 |
14.37 |
1.33 |
Rectum (154) |
6 |
3.45 |
4 |
1.47 |
3 |
8.03 |
1.10 |
Liver (155) |
2 |
0.56 |
0 |
0.24 |
2 |
1.45 |
4.10 |
Pancreas (157) |
6 |
2.06 |
0 |
0.87 |
8 |
4.76 |
2.95 (P=.0006) |
Gall bladder |
2 |
0.42 |
0 |
0.17 |
2 |
0.96 |
4.14 (P=.015) |
Larynx (161) |
1 |
1.03 |
0 |
0.46 |
1 |
2.79 |
0.74 |
Lung (162) |
9 |
11.43 |
4 |
4.79 |
24 |
27.37 |
1.03 |
Bone (170) |
1 |
0.19 |
0 |
0.11 |
1 |
0.68 |
1.41 |
Connective Tissue (171) |
0 |
0.49 |
0 |
0.24 |
2 |
1.27 |
1.07 |
Melanoma (172) |
7 |
2.04 |
2 |
1.00 |
3 |
4.37 |
2.43 (P=.005) |
Cervix (180) |
2 |
3.73 |
2 |
1.91 |
10 |
7.42 |
1.17 |
Other uterus (179,181, 182) |
5 |
3.35 |
2 |
1.68 |
2 |
4.99 |
1.23 |
Prostate (185) |
29 |
6.06 |
6 |
2.26 |
40 |
17.09 |
3.64 (P<.0001) |
Testis (186) |
1 |
0.28 |
0 |
0.15 |
0 |
1.46 |
1.10 |
Bladder (188) |
3 |
3.39 |
0 |
1.36 |
3 |
8.85 |
0.73 |
Kidney (189) |
3 |
2.11 |
2 |
0.96 |
2 |
5.07 |
0.85 |
Brain (191,192) |
3 |
1.57 |
1 |
0.79 |
4 |
4.34 |
1.75 |
Thyroid (193) |
2 |
1.06 |
2 |
0.55 |
2 |
2.46 |
1.48 |
Hodgkins Disease (201) |
2 |
0.82 |
0 |
0.47 |
1 |
2.62 |
1.40 |
Other lymphoma (200,202) |
5 |
1.97 |
1 |
0.90 |
4 |
4.62 |
1.73 (P=.08) |
Myeloma (203) |
0 |
0.84 |
0 |
0.35 |
1 |
1.90 |
0.37 |
Leukaemia (204-208) |
1 |
1.85 |
0 |
0.85 |
10 |
4.96 |
1.07 |
Other cancers* |
4 |
0.72 |
0 |
0.12 |
9 |
1.55 |
3.08 (P=.0003) |
Unknown site (199) |
2 |
2.96 |
0 |
1.39 |
7 |
7.21 |
0.90 |
All cancers except breast, ovary and non-melanoma skin |
117 |
65.38 |
35 |
28.54 |
181 |
157.12 |
1.65 (P<.0001) |
*Included 3 cases of peritoneum, 2 other digestive, 2 nose, 1 other endocrine, 2 lymph node secondary, 3 other/ill-defined
The risks of cancer in BRCA2 mutation carriers have been investigated in 173 families with BRCA2 mutations identified by 20 centres in Europe and North America. Cancer occurrence was determined in a cohort of 962 individuals with breast and/or ovarian cancer, and 3731 individuals who were either known carriers or were first degree relatives of known carriers or of breast or ovarian cancer cases. Incidence rates were compared to population specific incidence rates, and relative risks to carriers estimated by maximum likelihood (Breast Cancer Linkage Consortium, 1999). Obs = observed; Exp = expected; RR = relative risk