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. 2017 Aug 4;54(11):732–741. doi: 10.1136/jmedgenet-2017-104588

Table 2.

Associations by family history, synchronous or metachronous bilateral disease, age at diagnosis and hormone receptor subtype.

ATM CHEK2 PALB2
All Cases Carriers OR (95%CI) P-Value Carriers OR (95%CI) P-Value Carriers OR (95%CI) P-Value
Family History*
Positive 1301 (17.0%) 16 (29.6%) 28 (23.5%) 7 (13.2%)
Negative 6330 (83.0%) 38 (70.4%) 2.06 (1.12–3.65) 0.022 91 (76.5%) 1.51 (0.97–2.28) 0.070 46 (86.8%) 0.74 (0.60–1.54) 0.44
Bilateral Disease*
Positive 220 (1.7%) 0 (0.0%) 11 (5.3%) 4 (4.7%)
Negative 12 526 (98.3%) 83 (100.0%) NA 0.089 198 (94.7%) 3.27 (1.66–5.83) 0.0014 81 (95.3%) 2.85 (0.86–6.91) 0.080
Age at Diagnosis*
Before 50 3674 (28.4%) 25 (29.8%) 3.41 (1.72–7.23) 76 (36.0%) 3.98 (2.62–6.21) 27 (31.4%) 5.80 (2.67–14.5)
50s 4952 (38.3%) 34 (40.5%) 3.44 (1.80–7.13) 87 (41.2%) 3.37 (2.24–5.22) 41 (47.7%) 6.54 (3.12–16.0)
After 60 4305 (33.3%) 25 (29.8%) 2.91 (1.47–6.17) 0.66 48 (22.7%) 2.12 (1.35–3.41) 1.2×105 18 (20.9%) 3.29 (1.43–8.47) 0.22
ER Status†
Positive 7845 (83.6%) 50 (92.6%) 3.19 (1.73–6.47) 1.0×10−4 140 (91.5%) 3.42 (2.33–5.21) 1.5×1011 43 (79.6%) 4.32 (2.07–10.5) 2.7×105
Negative 1544 (16.4%) 4 (7.4%) 1.28 (0.36–3.76) 0.67 13 (8.5%) 1.59 (0.80–3.00) 0.18 11 (20.4%) 5.58 (2.19–15.2) 3.6×104
PR Status†
Positive 3026 (66.5%) 16 (64%) 2.65 (1.24–5.87) 0.012 61 (81.3%) 3.87 (2.51–6.12) 4.3E-10 16 (57.1%) 4.16 (1.77–10.8) 9.0×104
Negative 1524 (33.5%) 9 (36%) 2.96 (1.19–7.16) 0.021 14 (18.7%) 1.75 (0.89–3.25) 0.100 12 (42.9%) 6.21 (2.5–16.7) 1.0×104

*Case only analysis.

†Case-control analysis.