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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

From: Heritable genomic diversity in breast cancer driver genes and associations with risk in a Chilean population

   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
  1. BC breast cancer, OC ovarian cancer, OR odds ratio, CI confidence interval, Ref reference
  2. aFisher’s exact test; bold values are statistically significant (p < 0.05)