Table 2 Genotype and allelic frequencies of PALB2 rs152451 and rs45551636 in BRCA1/2 -negative breast cancer cases and controls
| Ā | Ā | All BC cases (nā=ā436) | Families with ā„ 2 BC and/or OC cases (nā=ā273) | Single affected, diagnosisāā¤ā50Ā years (nā=ā163) | ||||||
|---|---|---|---|---|---|---|---|---|---|---|
Genotype or allele | Controls (%) (nā=ā809) | BC cases (%) | Pvaluea | OR [95% CI] | BC cases (%) | Pvaluea | OR [95% CI] | BC cases (%) | Pvaluea | OR [95% CI] |
rs152451 | Ā | Ā | Ā | Ā | Ā | Ā | Ā | Ā | Ā | Ā |
AA | 674 (83.3%) | 351 (80.5%) | - | 1.0 (ref) | 210 (76.9%) | 0 | 1.0 (ref) | 141 (86.5%) | - | 1.0 (ref) |
AG | 127 (15.7%) | 79 (18.1%) | 0.26 | 1.2 [0.9-1.6] | 60 (22.0%) | 0.02 | 1.5 [1.1-2.2] | 19 (11.7%) | 0.23 | 0.7 [0.4-1.2] |
GG | 8 (1.0%) | 6 (1.4%) | 0.57 | 1.4 [0.4-4.8] | 3 (1.1%) | 0.73 | 1.2 [0.2-5.1] | 3 (1.8%) | 0.41 | 1.8 [0.3-7.6] |
AGā+āGG | 135 (16.7%) | 85 (19.5%) | 0.21 | 1.2 [0.9-1.6] | 63 (23.1%) | 0.02 | 1.5 [1.1-2.1] | 22 (13.5%) | 0.35 | 0.8 [0.5-1.3] |
A | 1475 (0.91) | 781 (0.90) | - | 1.0 (ref) | 480 (0.88) | 0 | 1.0 (ref) | 301 (0.92) | - | 1.0 (ref) |
G | 143 (0.09) | 91 (0.10) | 0.19 | 1.2 [0.9-1.6] | 66 (0.12) | 0.03 | 1.4 [1.0-1.9] | 25 (0.08) | 0.59 | 0.9 [0.5-1.3] |
rs45551636 | Ā | Ā | Ā | Ā | Ā | Ā | Ā | Ā | Ā | Ā |
CC | 786 (97.2%) | 413 (94.7%) | - | 1.0 (ref) | 255 (93.4%) | - | 1.0 (ref) | 158 (96.9%) | - | 1.0 (ref) |
CT | 23 (2.8%) | 22 (5.0%) | 0.06 | 1.8 [1.0-3.5] | 17 (6.2%) | 0.01 | 2.3 [1.1-4.5] | 5 (3.1%) | 0.80 | 1.1 [0.3-2.3] |
TT | 0 (0.0%) | 1 (0.2%) | - | - | 1 (0.4%) | - | 0 | 0 (0.0%) | - | - |
CTā+āTT | 23 (2.8%) | 23 (5.2%) | 0.04 | 1.9 [1.0-3.6] | 18 (6.6%) | 0.01 | 2.4 [1.2-4.7] | 5 (3.1%) | 0.80 | 1.1 [0.3-2.3] |
C | 1595 (0.99) | 848 (0.97) | - | 1.0 (ref) | 527 (0.97) | - | 1.0 (ref) | 321 (0.98) | - | 1.0 (ref) |
T | 23 (0.01) | 24 (0.03) | 0.03 | 2.0 [1.1-3.7] | 19 (0.03) | 0.01 | 2.5 [1.3-4.8] | 5 (0.02) | 0.80 | 1.1 [0.3-2.9] |