|
Summary of findings of studies of familial cases and controls |
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| Gene |
Familial |
Controls |
RF |
p |
RR |
p |
|
|
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| ATM [1] |
12/443 (2.7%) |
2/521 (0.8%) |
7.1 (1.6–31) |
0.003 |
2.4 (1.5–3.8) |
0.0003 |
| BRIP1 [2] |
9/1,212 (0.7%) |
2/2,081 (0.1%) |
7.7 (1.7–36) |
0.002 |
2.0 (1.2–3.2) |
0.01 |
| PALB2 [3] |
10/923 (1.1%) |
0/1,084 (0.0%) |
- |
0.0004 |
2.3 (1.4–3.9) |
0.0025 |
| PALB2 [4] |
3/113 (2.7%) |
6/2,501 (0.2%) |
11.1 (2.8–44) |
0.005 |
NA |
|
| CHEK2 [5] |
55/1,071 (5.1%) |
18/1,620 (1.1%) |
4.6 (2.7–8) |
0.00000 |
1.7 (1.3–2.2) |
0.0001 |
|
RF represents the relative frequency of mutations in familial cases versus controls. RR represents the estimated effect of carrying a mutation on the average woman from fitting a multiplicative polygenic model. Confidence intervals for RF and RR are shown in parentheses. | ||||||
Byrnes et al. Breast Cancer Research 2008 10:208 doi:10.1186/bcr2099 |
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