Table 3 Genotype and allelic frequencies of PALB2 rs152451 and rs45551636 according the number of BC cases in the families in BRCA1/2 -negative breast cancer cases and controls
| Ā | Ā | Families with 2 BC and/or OC cases (nā=ā124) | Families with ā„ 3 BC and/or OC cases (nā=ā149) | ||||
|---|---|---|---|---|---|---|---|
Genotype or allele | Controls (%) (nā=ā809) | BC cases (%) | Pvaluea | OR [95% CI] | BC cases (%) | Pvaluea | OR [95% CI] |
rs152451 | Ā | Ā | Ā | Ā | Ā | Ā | Ā |
AA | 674 (83.3%) | 88 (71.0%) | - | 1.0 (ref) | 122 (81.9%) | - | 1.0 (ref) |
AG | 127 (15.7%) | 33 (26.6%) | 0.47 | 1.2 [0.7-1.9] | 27 (18.1%) | <0.01 | 2.0 [1.2-3.1] |
GG | 8 (1.0%) | 3 (2.4%) | - | - | 0 (0.0%) | 0.13 | 2.9 [0.5-12.2] |
AGā+āGG | 135 (16.7%) | 36 (29.0%) | 0.63 | 1.1 [0.7-1.8] | 27 (18.1%) | <0.01 | 2.0 [1.3-3.2] |
A | 1475 (0.91) | 209 (0.84) | - | 1.0 (ref) | 271 (0.91) | - | 1.0 (ref) |
G | 143 (0.09) | 39 (0.16) | 0.91 | 1.0 [0.6-1.6] | 27 (0.09) | <0.01 | 1.9 [1.3-2.8] |
rs45551636 | Ā | Ā | Ā | Ā | Ā | Ā | Ā |
CC | 786 (97.2%) | 113 (91.1%) | - | 1.0 (ref) | 142 (95.3%) | - | 1.0 (ref) |
CT | 23 (2.8%) | 10 (8.1%) | 0.30 | 1.7 [0.6-4.1] | 7 (4.7%) | <0.01 | 3.0 [1.2-6.8] |
TT | 0 (0.0%) | 1 (0.8%) | - | - | 0 (0.0%) | - | - |
CTā+āTT | 23 (2.8%) | 11 (8.9%) | 0.30 | 1.7 [0.6-4.1] | 7 (4.7%) | <0.01 | 3.3 [1.4-7.3] |
C | 1595 (0.99) | 236 (0.95) | - | 1.0 (ref) | 291 (0.98) | 0 | 1.0 (ref) |
T | 23 (0.01) | 12 (0.05) | 0.30 | 1.7 [0.6-4.1] | 7 (0.02) | <0.01 | 3.5 [1.6-7.5] |