Table 1 Genotype and allele frequencies of rs4685 (SF3B1), rs12366395 (TBX3), rs72758040 (MAP3K1), rs8853 (TBX3), and rs1061651 (TBX3) in BRCA1/2-negative breast cancer cases and controls
All BC cases (n = 486) | Families with ≥ 2 BC and/or OC cases (n = 308) | Families with a single case, diagnosis at ≤ 50 years of age (n = 178) | ||||||||
|---|---|---|---|---|---|---|---|---|---|---|
Genotype or allele | Controls (%) (n = 1258) | BC cases (%) | OR [95% CI] | p-valuea | BC cases (%) | OR [95% CI] | p-valuea | BC cases (%) | OR [95% CI] | p-valuea |
rs4685 (SF3B1) | ||||||||||
C/C | 504 (40.1) | 213 (43.8) | (ref.) | – | 133 (43.2) | (ref.) | – | 80 (44.9) | (ref.) | – |
C/T | 560 (44.5) | 213 (43.8) | 0.9 [0.7–1.1] | 0.35 | 139 (45.1) | 0.9 [0.7–1.2] | 0.68 | 74 (41.6) | 0.8 [0.5–1.1] | 0.30 |
T/T | 194 (15.4) | 60 (12.4) | 0.7 [0.5–1.0] | 0.07 | 36 (11.7) | 0.7 [0.4–1.0] | 0.09 | 24 (13.5) | 0.7 [0.4–1.2] | 0.34 |
C/T + T/T | 754 (59.9) | 273 (56.2) | 0.8 [0.6–1.0] | 0.15 | 175 (56.8) | 0.8 [0.6–1.1] | 0.33 | 98 (55.1) | 0.8 [0.5–1.1] | 0.22 |
Allele C | 1568 (62.3) | 639 (65.7) | (ref.) | – | 405 (65.7) | (ref.) | – | 234 (65.7) | (ref.) | – |
Allele T | 948 (37.7) | 333 (34.3) | 0.8 [0.7–1.0] | 0.06 | 211 (34.3) | 0.8 [0.7–1.0] | 0.12 | 122 (34.3) | 0.8 [0.6–1.0] | 0.23 |
rs12366395 (TBX3) | ||||||||||
A/A | 989 (78.6) | 355 (73.0) | (ref.) | – | 220 (71.4) | (ref.) | – | 135 (75.8) | (ref.) | – |
A/G | 252 (20.0) | 124 (25.5) | 1.3 [1.0–1.7] | 0.01 | 82 (26.6) | 1.4 [1.0–1.9] | 0.01 | 42 (23.6) | 1.2 [0.8–1.7] | 0.3 |
G/G | 17 (1.4) | 7 (1.4) | 1.1 [0.4–2.7] | 0.8 | 6 (1.9) | 1.5 [0.6–4.0] | 0.4 | 1 (0.6) | 0.4 [0.05–3.2] | 0.7 |
A/G + G/G | 269 (21.4) | 131 (27.0) | 1.3 [1.0–1.7] | 0.01 | 88 (28.6) | 1.4 [1.1–1.9] | 0.008 | 43 (24.2) | 1.1 [0.8–1.6] | 0.4 |
Allele A | 2230 (88.6) | 834 (85.8) | (ref.) | – | 522 (84.7) | (ref.) | – | 312 (87.6) | (ref.) | – |
Allele G | 286(11.4) | 138 (14.2) | 1.2 [1.0–1.6] | 0.02 | 94 (15.3) | 1.4 [1.0–1.8] | 0.009 | 44 (12.4) | 1.1 [0.7–1.5] | 0.6 |
rs72758040 (MAP3K1) | ||||||||||
G/G | 866 (68.8) | 317 (65.4) | (ref.) | – | 194 (63.3) | (ref.) | – | 123 (69.1) | (ref.) | – |
G/C | 307 (24.4) | 119 (24.5) | 1.0 [0.8–1.3] | 0.65 | 76 (24.7) | 1.1 [0.8–1.4] | 0.54 | 43 (24.2) | 0.9 [0.6–1.4] | 1.0 |
C/C | 85 (6.8) | 50 (10.1) | 1.6 [1.1–2.3] | 0.01 | 38 (12.0) | 1.9 [1.3–3.0] | 0.001 | 12 (6.7) | 0.9 [0.5–1.8] | 1.0 |
G/C + C/C | 392 (31.2) | 168 (34.6) | 1.1 [0.9–1.4] | 0.16 | 113 (36.7) | 1.2 [0.9–1.6] | 0.06 | 55 (30.9) | 0.9 [0.7–1.3] | 1.0 |
Allele G | 2039 (81.0) | 755 (77.7) | (ref.) | – | 466 (75.6) | (ref.) | - | 289 (81.2) | (ref.) | – |
Allele C | 477 (19.0) | 217 (22.3) | 1.2 [1.0–1.4] | 0.02 | 150 (24.4) | 1.3 [1.1–1.6] | 0.003 | 67 (18.8) | 0.9 [0.7–1.3] | 0.9 |
rs8853 (TBX3) | ||||||||||
T/T | 512 (40.7) | 195 (40.1) | (ref.) | – | 125 (40.6) | (ref.) | – | 70 (39.3) | (ref.) | – |
T/C | 563 (44.8) | 217 (44.7) | 1.0 [0.8–1.2] | 0.95 | 132 (42.9) | 0.9 [0.7–1.2] | 0.78 | 85 (47.8) | 1.1 [0.7–1.5] | 0.60 |
C/C | 183 (14.5) | 74 (15.2) | 1.0 [0.7–1.4] | 0.74 | 51 (16.5) | 1.1 [0.7–1.6] | 0.50 | 23 (12.9) | 0.9 [0.5–1.5] | 0.80 |
T/C + C/C | 746 (59.3) | 291 (59.9) | 1.0 [0.8–1.2] | 0.87 | 183 (59.4) | 1.0 [0.7–1.2] | 1.00 | 108 (60.7) | 1.0 [0.7–1.4] | 0.74 |
Allele T | 1587 (63.1) | 607 (62.4) | (ref.) | – | 382 (62.0) | (ref.) | – | 225 (63.2) | (ref.) | – |
Allele C | 929 (36.9) | 365 (37.6) | 1.0 [0.8–1.1] | 0.76 | 234 (38.0) | 1.0 [0.8–1.2] | 0.65 | 131 (36.8) | 0.9 [0.7–1.2] | 0.99 |
rs1061651 (TBX3) | ||||||||||
T/T | 414 (32.9) | 154 (31.7) | (ref.) | – | 98 (31.8) | (ref.) | - | 56 (31.5) | (ref.) | – |
T/C | 596 (47.4) | 240 (49.4) | 1.0 [0.8–1.3] | 0.54 | 153 (49.7) | 1.0 [0.8–1.4] | 0.61 | 87 (48.9) | 1.0 [0.7–1.5] | 0.71 |
C/C | 248 (19.7) | 92 (18.9) | 0.9 [0.7–1.3] | 1.00 | 57 (18.5) | 0.9 [0.6–1.3] | 0.92 | 35 (19.7) | 1.0 [0.6–1.6] | 0.90 |
T/C + C/C | 844 (67.1) | 332 (68.3) | 1.0 [0.8–1.3] | 0.64 | 210 (68.2) | 1.0 [0.8–1.3] | 0.73 | 122 (68.5) | 1.0 [0.7–1.4] | 0.73 |
Allele T | 1424 (56.6) | 548 (56.4) | (ref.) | – | 349 (56.7) | (ref.) | – | 199 (55.9) | (ref.) | – |
Allele C | 1092 (43.4) | 424 (43.6) | 1.0 [0.8–1.1] | 0.93 | 267 (43.3) | 0.9 [0.8–1.1] | 0.98 | 157 (44.1) | 1.0 [0.8–1.2] | 0.84 |