Risk ratios for each of the genes examined
| Gene | N family* | All cases | Confirmed cases† | ||
|---|---|---|---|---|---|
| % BRCA2 | Constant RR | % BRCA2 | Constant RR | ||
| ATM | 7 | 0.13 (0.05 to 0.42) | 2.51 (0.95 to 8.26) | 0.13 (0.04 to 0.55) | 2.67 (0.82 to 10.56) |
| BARD1 | 3 | 0.22 (0.04 to 1.37) | 1.58 (0.41 to 8.37) | 0.29 (0.05 to 2.26) | 2.27 (0.47 to 18.91) |
| BRIP1 | 12 | 0.03 (0.01‡ to 0.08) | 0.47 (0.15 to 1.18) | 0.04 (0.01 to 0.11) | 0.57 (0.17 to 1.56) |
| CDH1 | 1 | 0.79 (0.01 to 3.00‡) | 13.62 (1.12 to 24.0‡) | 0.32 (0.02 to 1.44) | 5.21 (0.25 to 23.26) |
| CHEK2 | 13 | 0.16 (0.08 to 0.39) | 2.22 (1.14 to 4.68) | 0.35 (0.11 to 1.33) | 5.00 (1.60 to 20.84) |
| MRE11A | 3 | 0.06 (0.01‡ to 0.27) | 0.86 (0.06 to 3.66) | 0.06 (0.01‡ to 0.37) | 0.80 (0.05 to 4.48) |
| NBN | 1 | 0.01‡ (0.01‡ to 0.10) | 0.01‡ (0.01‡ to 1.71) | 0.01‡ (0.01‡ to 0.39) | 0.01‡ (0.01‡ to 3.42) |
| PALB2 | 12 | 0.11 (0.05 to 0.34) | 2.72 (1.12 to 9.66) | 0.13 (0.05 to 0.43) | 2.91 (1.00 to 9.21) |
| PTEN | 1 | 0.05 (0.01‡ to 0.30) | 0.89 (0.05 to 4.44) | 0.08 (0.01‡ to 0.53) | 1.16 (0.06 to 6.35) |
| RAD50 | 1 | 0.01‡ (0.01‡ to 0.11) | 0.01‡ (0.01‡ to 2.96) | 0.01‡ (0.01‡ to 0.11) | 0.01‡ (0.01‡ to 2.96) |
| RAD51C | 1 | 0.01‡ (0.01‡ to 0.21) | 0.01‡ (0.01‡ to 2.54) | 0.01‡ (0.01‡ to 0.21) | 0.01‡ (0.01‡ to 2.54) |
| RAD51D | 3 | 0.21 (0.02 to 3.00) | 1.40 (0.20 to 18.61) | 0.27 (0.01‡ to 2.07) | 1.57 (0.07 to 19.91) |
| STK11 | 1 | 0.01‡ (0.01‡ to 0.08) | 0.01‡ (0.01‡ to 1.82) | 0.01‡ (0.01‡ to 0.17) | 0.01‡ (0.01‡ to 4.23) |
| TP53 | 4 | 0.23 (0.07 to 3.00‡) | 3.76 (1.25 to 24.0‡) | 0.29 (0.07 to 3.00‡) | 4.19 (1.18 to 24.0‡) |
*Number of families informative for penetrance estimation (analysis was restricted to families with one or more additional family members genotyped for the variant identified in the index case).
†Confirmed by pathology or medical records.
‡Maximum likelihood estimate or CI limit at search boundary; true estimate/CI limit could be greater/smaller than this value.