Table 2 Genotype and allele frequencies of rs4685 (SF3B1), rs12366395 (TBX3), rs72758040 (MAP3K1), rs8853 (TBX3), and rs1061651 (TBX3) according to number of BC cases per family in BRCA1/2-negative breast cancer cases and controls
Families with 2 BC and/or OC cases (n = 163) | Families with ≥ 3 BC and/or OC cases (n = 145) | ||||||
|---|---|---|---|---|---|---|---|
Genotype or allele | Controls (%) (n = 1258) | BC cases (%) | OR [95% CI] | p-valuea | BC cases (%) | OR [95% CI] | p-valuea |
rs4685 (SF3B1) | |||||||
C/C | 504 (40.1) | 75 (46.0) | (Ref.) | – | 58 (40.0) | (Ref.) | – |
C/T | 560 (44.5) | 70 (42.9) | 0.8 [0.5–1.1] | 0.33 | 69 (47.6) | 1.0 [0.7–1.5] | 0.77 |
T/T | 194 (15.4) | 18 (11.0) | 0.6 [0.3–1.0] | 0.10 | 18 (12.4) | 0.8 [0.4–1.4] | 0.50 |
C/T + T/T | 754 (59.9) | 88 (53.9) | 0.7 [0.5–1.0] | 0.15 | 87 (60.0) | 1.0 [0.7–1.4] | 1.00 |
Allele C | 1568 (62.3) | 220 (67.5) | (Ref.) | – | 185 (63.8) | (Ref.) | – |
Allele T | 948 (37.7) | 106 (32.5) | 0.7 [0.6–1.0] | 0.07 | 105 (36.2) | 0.9 [0.7–1.2] | 0.67 |
rs12366395 (TBX3) | |||||||
A/A | 989 (78.6) | 118 (72.4) | (Ref.) | – | 102 (70.3) | (Ref.) | – |
A/G | 252 (20.0) | 43 (26.4) | 1.4 [0.9–2.0] | 0.06 | 39 (26.9) | 1.5 [1.0–2.2] | 0.04 |
G/G | 17 (1.4) | 2 (1.2) | 0.9 [0.2–4.3] | 1.0 | 4 (2.8) | 2.2 [0.7–6.9] | 0.1 |
A/G + G/G | 269 (21.4) | 45 (27.6) | 1.4 [0.9–2.0] | 0.08 | 43 (29.7) | 1.5 [1.0–2.2] | 0.02 |
Allele A | 2230 (88.6) | 279 (85.6) | (Ref.) | – | 243 (83.8) | (Ref.) | – |
Allele G | 286(11.4) | 47 (14.4) | 1.3 [0.9–1.8] | 0.1 | 47 (16.2) | 1.5 [1.0–2.1] | 0.02 |
rs72758040 (MAP3K1) | |||||||
G/G | 866 (68.8) | 103 (63.4) | (Ref.) | – | 92 (63.2) | (Ref.) | – |
G/C | 307 (24.4) | 41 (25.0) | 1.1 [0.7–1.6] | 0.54 | 35 (24.3) | 1.0 [0.7–1.6] | 0.74 |
C/C | 85 (6.8) | 19 (11.6) | 1.8 [1.0–3.1] | 0.03 | 18 (12.5) | 1.9 [1.1–3.4] | 0.01 |
G/C + C/C | 392 (31.2) | 60 (36.6) | 1.2 [0.9–1.8] | 0.15 | 53 (36.8) | 1.2 [0.8–1.8] | 0.18 |
Allele G | 2039 (81.0) | 247 (75.9) | (Ref.) | – | 219 (75.5) | (Ref.) | – |
Allele C | 477 (19.0) | 79 (24.1) | 1.3 [1.0–1.7] | 0.02 | 71 (24.5) | 1.3 [1.0–1.8] | 0.03 |
rs8853 (TBX3) | |||||||
T/T | 512 (40.7) | 65 (39.9) | (Ref.) | – | 60 (41.4) | (Ref.) | – |
T/C | 563 (44.8) | 70 (42.9) | 0.9 [0.6–1.4] | 0.92 | 63 (43.4) | 0.9 [0.6–1.3] | 0.84 |
C/C | 183 (14.5) | 28 (17.2) | 1.2 [0.7–1.9] | 0.45 | 22 (15.2) | 1.0 [0.6–1.7] | 0.89 |
T/C + C/C | 746 (59.3) | 98 (60.1) | 1.0 [0.7–1.4] | 0.86 | 84 (58.6) | 0.9 [0.6–1.3] | 0.96 |
Allele T | 1587 (63.1) | 200 (61.3) | (Ref.) | – | 183 (63.1) | (Ref.) | – |
Allele C | 929 (36.9) | 126 (38.7) | 1.0 [0.8–1.3] | 0.58 | 107 (36.9) | 0.9 [0.7–1.2] | 0.95 |
rs1061651 (TBX3) | |||||||
T/T | 414 (32.9) | 52 (31.9) | (Ref.) | – | 46 (31.7) | (Ref.) | – |
T/C | 596 (47.4) | 77 (47.2) | 1.0 [0.7–1.4] | 0.92 | 76 (52.4) | 1.1 [0.7–1.6] | 0.49 |
C/C | 248 (19.7) | 34 (20.9) | 1.0 [0.6–1.7] | 0.72 | 23 (15.9) | 0.8 [0.4–1.4] | 0.60 |
T/C + C/C | 844 (67.1) | 111 (68.1) | 1.0 [0.7–1.4] | 0.85 | 99 (68.3) | 1.0 [0.7–1.5] | 0.85 |
Allele T | 1424 (56.6) | 181 (55.5) | (Ref.) | – | 168 (57.9) | (Ref.) | – |
Allele C | 1092 (43.4) | 145 (44.5) | 1.0 [0.8–1.3] | 0.75 | 122 (42.1) | 0.9 [0.7–1.2] | 0.71 |