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

Biological Research

Table 3 Combined effect of rs12366395 (TBX3) and rs72758040 (MAP3K1) on breast cancer risk

Number of risk alleles^(a)	Controls (n = 1258) (%)	All BC cases (n = 486)			Families with ≥ 2 BC and/or OC cases (n = 308)			Families with a single case, diagnosis at ≤ 50 years of age (n = 178)
Number of risk alleles^(a)	Controls (n = 1258) (%)	BC cases (%)	OR [95% CI]	p-value value^b	BC cases (%)	OR [95% CI]	p-value^b	BC cases (%)	OR [95% CI]	p-value^b
0 risk alleles	664 (52.8)	238 (49.0)	1.0 (Ref.)	–	145 (47.1)	1.0 (Ref.)	–	93 (52.2)	1.0 (Ref.)	–
1 risk allele	442 (35.1)	162 (33.3)	1.0 [0.8–1.2]	0.85	100 (32.5)	1.0 [0.7–1.3]	0.82	62 (34.8)	1.0 [0.7–1.4]	1.00
2 risk alleles	132 (10.5)	76 (15.6)	1.6 [1.1–2.2]	0.004	56 (18.2)	1.9 [1.3–2.7]	0.0006	20 (11.2)	1.0 [0.6–1.8]	0.78
3 risk alleles	19 (1.5)	7 (1.4)	1.0 [0.4–2.4]	1.00	4 (1.3)	1.0 [0.3–2.8]	1.00	3 (1.7)	1.1 [0.3–3.8]	0.74
4 risk alleles	1 (0.1)	3 (0.6)	8.3 [0.8–80.9]	0.05	3 (1.0)	13.7 [0.4–133.1]	0.02	0 (0.0)	2.3 [0.09–58.6]	1.00
p-trend^(c)				0.01			0.001			0.81
Global p ^(d)				0.009			0.0002			0.99

(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 ratio, CI confidence interval, Ref reference
Bold values are statistically significant (p < 0.05)

ISSN: 0717-6287