Table 4.
Composite genotype frequencies for rs3819122 (SMAD4) and rs16865677 (SF3B1) in BRCA1/2-negative breast cancer cases and controls.
| Composite Genotypes | All BC Cases (n = 488) | Families with ≥2 BC and/or OC Cases (n = 314) |
Families with a Single Case, Diagnosis at ≤50 Years of Age (n = 174) |
||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| SMAD4 | SF3B1 | Controls n = 1261 (%) |
BC Cases (%) |
OR [95% CI] |
p-Value a | BC Cases (%) |
OR [95% CI] |
p-Value a | BC Cases (%) |
OR [95% CI] |
p-Value a |
| rs3819122 | rs16865677 | ||||||||||
| A/A | G/G | 336 (26.62) | 106 (21.72) | 1.0 (ref) | - | 66 (21.02) | 1.0 (ref) | - | 40 (22.99) | 1.0 (ref) | - |
| A/A | G/T | 153 (12.12) | 34 (6.97) | 0.7 [0.4–1.1] | 0.12 | 20 (6.37) | 0.6 [0.3–1.1] | 0.16 | 14 (8.05) | 0.7 [0.4–1.4] | 0.53 |
| A/A | T/T | 22 (1.74) | 9 (1.84) | 1.3 [0.5–2.9] | 0.52 | 5 (1.59) | 0.4 [0.1–2.0] | 0.39 | 4 (2.30) | 1.5 [0.5–4.6] | 0.51 |
| A/C | G/G | 390 (30.90) | 165 (33.81) | 1.3 [1.0–1.7] | 0.045 | 113 (35.99) | 1.4 [1.0–2.0] | 0.023 | 52 (29.89) | 1.1 [0.7–1.7] | 0.65 |
| A/C | G/T | 155 (12.28) | 86 (17.62) | 1.7 [1.2–2.4] | 0.0013 | 46 (14.65) | 1.5 [0.9–2.3] | 0.059 | 40 (22.99) | 2.1 [1.3–3.5] | 0.0021 |
| A/C | T/T | 23 (1.82) | 12 (2.46) | 1.6 [0.7–3.4] | 0.22 | 6 (1.91) | 1.3 [0.5–3.3] | 0.60 | 6 (3.45) | 2.1 [0.8–5.7] | 0.12 |
| C/C | G/G | 130 (10.30) | 47 (9.63) | 1.1 [0.7–1.7] | 0.53 | 37 (11.78) | 1.4 [0.9–2.2] | 0.12 | 10 (5.75) | 0.6 [0.3–1.3] | 0.31 |
| C/C | G/T | 48 (3.80) | 28 (5.74) | 1.8 [1.1–3.0] | 0.023 | 21 (6.69) | 2.2 [1.2–3.9] | 0.012 | 7 (4.02) | 1.2 [0.5–2.8] | 0.64 |
| C/C | T/T | 5 (0.40) | 1 (0.20) | 0.6 [0.07–5.49] | 1.00 | 0 (0.00) | 0.46 [0.02–8.42] | 1.00 | 1 (0.57) | 1.6 [0.1–14.8] | 0.49 |
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).