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Table 4 Combined effect of rs12366395 (TBX3) and rs72758040 (MAP3K1) on breast cancer risk according to number of BC cases per family

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

Number of risk allelesa Controls (n = 1258) (%) Families with 2 BC and/or OC Cases (n = 163) Families with ≥ 3 BC and/or OC Cases (n = 145)
BC Cases (%) OR [95% CI] p-valueb BC Cases (%) OR [95% CI] p-valueb
0 Risk alleles 664 (52.8) 78 (47.9) 1.0 (Ref.) 67 (46.2) 1.0 (Ref.)
1 Risk allele 442 (35.1) 53 (32.5) 1.0 [0.7–1.4] 0.92 47 (32.4) 1.0 [0.7–1.4] 0.84
2 Risk alleles 132 (10.5) 31 (19.0) 1.9 [1.2–3.1] 0.004 25 (17.2) 1.8 [1.1–3.0] 0.01
3 Risk alleles 19 (1.5) 0 (0.0) 0.2 [0.01–3.6] 0.24 4 (2.8) 2.0 [0.6–6.3] 0.26
4 Risk alleles 1 (0.1) 1 (0.6) 8.5 [0.5–137.5] 0.20 2 (1.4) 19.8 [1.7–221.6] 0.02
p-trendc     0.05    0.003
Global pd     0.003    0.001
  1. (a) 0 risk alleles: A/A + G/G; 1 risk allele: A/A + G/C, A/G + G/G; 2 risk alleles: A/A + C/C, G/G + G/G, A/G + G/C; 3 risk alleles: A/G + C/C, G/G + A/C; 4 risk alleles: G/G + C/C.; (b) Fisher’s exact test; (c) Chi-test for trend; (d) Chi-squared test for independence
  2. BC breast cancer, OC ovarian cancer, OR odds ratios, CI confidence interval, Ref reference
  3. Bold values are statistically significant (p < 0.05)