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

Biological Research

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

Number of risk alleles^a	Controls (n = 1258) (%)	Families with 2 BC and/or OC Cases (n = 163)			Families with ≥ 3 BC and/or OC Cases (n = 145)
Number of risk alleles^a	Controls (n = 1258) (%)	BC Cases (%)	OR [95% CI]	p-value^b	BC Cases (%)	OR [95% CI]	p-value^b
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-trend^c				0.05			0.003
Global p^d				0.003			0.001

(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
BC breast cancer, OC ovarian cancer, OR odds ratios, CI confidence interval, Ref reference
Bold values are statistically significant (p < 0.05)

ISSN: 0717-6287