Table 1 Damaging PALB2 missense variants associate with increased breast cancer risk
BRIDGES CARRIERS CZECANCAa | Category | Cases/controls | Odds ratio | CI (95%)b | P-value |
|---|---|---|---|---|---|
|  | Functional | 463/379 | 1.07 | 0.93–1.23 | 0.333 |
|  | Intermediate | 159/109 | 1.28 | 1.00–1.64 | 0.050 |
|  | Damaging | 16/3 | 4.67 | 1.36–18.82 | 0.009 |
|  | Standardsc | 220/38 | 5.18 | 3.68–7.38 | 4.17 × 10−28 |
UK Biobank | Category | Cases/controls | Odds ratio | CI (95%) | P-value |
|---|---|---|---|---|---|
|  | Functional | 59/587 | 0.99 | 0.75–1.30 | 1.000 |
|  | Intermediate | 34/206 | 1.63 | 1.12–2.34 | 0.013 |
|  | Damaging | 3/6 | 4.94 | 1.07–20.68 | 0.043 |
|  | Standards | 71/170 | 4.14 | 3.13–5.50 | 3.7 × 10−19 |
Clinical cohort/gnomAD | Category | Cases/controls | Odds ratio | CI (95%) | P-value |
|---|---|---|---|---|---|
|  | Functional | 245/627 | 1.10 | 0.94–1.27 | 0.228 |
|  | Intermediate | 519/264 | 1.00 | 0.86–1.16 | 1.000 |
|  | Damaging | 51/8 | 3.25 | 1.58–7.51 | 7.83 × 10−4 |
|  | Standards | 919/65 | 7.22 | 5.63–9.38 | 4.76 × 10−93 |
Clinical cohort/All of Us | Category | Cases/controls | Odds ratio | CI (95%) | P-value |
|---|---|---|---|---|---|
|  | Functional | 245/396 | 1.09 | 0.93–1.28 | 0.285 |
|  | Intermediate | 519/192 | 0.87 | 0.73–1.03 | 0.096 |
|  | Damaging | 51/6 | 2.73 | 1.16–6.53 | 0.013 |
|  | Standards | 919/54 | 5.47 | 4.16–7.24 | 2.68 × 10−55 |