Table 3.
Genotype and allele frequencies of rs832583 (MAP3K1), rs16865677 (SF3B1), rs3819122 (SMAD4) and rs12456284 (SMAD4) according to the number of BC cases per family in BRCA1/2-negative breast cancer cases and controls.
| Genotype or Allele |
Controls (%) (n = 1285) |
Families with ≥2 BC and/or OC Cases (n = 165) | Families with ≥3 BC and/or OC Cases (n = 151) | ||||
|---|---|---|---|---|---|---|---|
| BC Cases (%) |
OR [95% CI] |
p-Value a | BC Cases (%) |
OR [95% CI] |
p-Value a | ||
| rs832583 (MAP3K1) | |||||||
| C/C | 473 (36.8) | 73 (44.2) | 1.0 (ref) | - | 67 (44.3) | 1.0 (ref) | - |
| C/A | 587 (45.7) | 69 (41.7) | 0.7 [0.5–1.0] | 0.14 | 63 (41.6) | 0.7 [0.5–1.0] | 0.13 |
| A/A | 225 (17.4) | 23 (14.1) | 0.7 [0.4–1.1] | 0.12 | 21 (14.1) | 0.6 [0.3–1.1] | 0.11 |
| C/A+A/A | 812 (63.2) | 92 (55.8) | 0.7 [0.5–1.0] | 0.07 | 84 (55.7) | 0.7 [0.5–1.0] | 0.07 |
| Allele C | 1533 (59.6) | 215 (65.0) | 1.0 (ref) | - | 197 (65.1) | 1.0 (ref) | - |
| Allele A | 1037 (40.4) | 115 (35.0) | 0.7 [0.6–1.0] | 0.06 | 105 (34.9) | 0.7 [0.6–1.0] | 0.06 |
| rs16865677 (SF3B1) | |||||||
| G/G | 870 (67.7) | 114 (69.0) | 1.0 (ref) | - | 103 (68.0) | 1.0 (ref) | - |
| G/T | 364 (28.3) | 45 (27.3) | 0.9 [0.6–1.3] | 0.85 | 43 (28.5) | 1.0 [0.6–1.4] | 1.0 |
| T/T | 51 (4.0) | 6 (3.7) | 0.9 [0.4–2.0] | 1.0 | 5 (3.5) | 0.8 [0.3–2.1] | 1.0 |
| G/T+T/T | 415 (32.3) | 51 (31.1) | 0.9 [0.6–1.3] | 0.78 | 48 (31.9) | 0.9 [0.6–1.4] | 1.0 |
| Allele G | 2104 (81.9) | 273 (82.6) | 1.0 (ref) | - | 249 (82.3) | 1.0 (ref) | - |
| Allele T | 466 (18.1) | 57 (17.4) | 0.9 [0.7–1.2] | 0.81 | 53 (17.7) | 0.9 [0.7–1.3] | 0.93 |
| rs3819122 (SMAD4) | |||||||
| A/A | 519 (40.4) | 41 (25.0) | 1.0 (ref) | - | 50 (32.9) | (ref) | - |
| A/C | 576 (44.8) | 91 (55.3) | 2.0 [1.3–2.9] | 0.0004 | 74 (49.3) | 1.3 [0.9–2.0] | 0.13 |
| C/C | 190 (14.8) | 33 (19.7) | 2.1 [1.3–3.5] | 0.001 | 27 (17.9) | 1.4 [0.8–2.4] | 0.16 |
| A/C+C/C | 766 (59.6) | 124 (75.0) | 2.0 [1.3–2.9] | <0.0001 | 101 (67.1) | 1.3 [0.9–2.0] | 0.09 |
| Allele A | 1614 (62.8) | 173 (52.6) | 1.0 (ref) | - | 174 (57.5) | (ref) | - |
| Allele C | 956 (37.2) | 157 (47.4) | 1.5 [1.2–1.9] | 0.003 | 128 (42.5) | 1.2 [0.9–1.6] | 0.08 |
| rs12456284 (SMAD4) | |||||||
| A/A | 685 (53.3) | 77 (46.9) | 1.0 (ref) | - | 71 (46.8) | 1.0 (ref) | - |
| A/G | 427 (33.2) | 64 (38.6) | 1.3 [0.9–1.8] | 0.11 | 59 (38.9) | 1.3 [0.9–1.9] | 0.12 |
| G/G | 173 (13.5) | 24 (14.5) | 1.2 [0.7–2.0] | 0.48 | 21 (14.3) | 1.1 [0.6–1.9] | 0.58 |
| A/G+G/G | 600 (46.7) | 88 (53.1) | 1.3 [0.9–1.8] | 0.11 | 80 (53.2) | 1.2 [0.9–1.8] | 0.14 |
| Allele A | 1797 (69.9) | 192 (66.2) | 1.0 (ref) | - | 201 (66.6) | 1.0 (ref) | - |
| Allele G | 773 (30.1) | 98 (33.8) | 1.1 [0.9–1.5] | 0.21 | 101 (33.4) | 1.1 [0.9–1.5] | 0.25 |
BC: breast cancer, OC: ovarian cancer, OR: odds ratio, CI: confidence interval; a Fisher’s exact test; bold values are statistically significant (p < 0.05).