Association of PALB2 sequence variants with the risk of familial and early-onset breast cancer in a South-American population

Table 4 Composite genotype frequencies for rs152451 and rs45551636 PALB2 variants in BRCA1/2 negative breast cancer cases and controls

		All BC cases (n = 436)			Families with ≥ 2 BC and/or OC cases (n = 273)			Families with ≥ 3 BC and/or OC cases (n = 124)			Single affected, diagnosis ≤ 50 years (n = 163)
Composite genotype (rs152451-rs45551636)	Controls (%) (n = 809)	BC cases (%)	Pvalue^a	OR [95% CI]	BC cases (%)	Pvalue^a	OR [95% CI]	BC cases (%)	Pvalue^a	OR [95% CI]	BC cases (%)	Pvalue^a	OR [95% CI]
A/A-C/C	674 (83.3%)	351 (80.5%)	-	1.0 (ref)	210 (76.9%)	-	1.0 (ref)	88 (71.0%)	0	1.0 (ref)	141 (86.5%)	-	1.0 (ref)
A/G-C/C	106 (13.1%)	58 (13.3%)	0.79	1.1 (0.7-1.5)	43 (15.8%)	0.18	1.3 (0.9-1.9)	23 (18.6%)	0.06	1.7 (1.0-2.7)	15 (9.2%)	0.19	0.7 (0.4-1.2)
A/G-C/T	21 (2.6%)	21 (4.8%)	0.04	1.9 (1.0-3.6)	17 (6.2%)	0.01	2.6 (1.4-5.0)	10 (8.1%)	0.003	3.6 (1.7-8.0)	4 (2.5%)	1.00	0.9 (0.3-2.7)
G/G-C/C	6 (0.7%)	4 (0.9%)	0.74	1.3 (0.4-4.6)	2 (0.7%)	1.00	1.1 (0.2-5.3)	2 (1.6%)	0.24	2.6 (0.5-12.9)	2 (1.2%)	0.63	1.6 (0.3-8.0)
G/G-C/T	2 (0.2%)	1 (0.2%)	1.00	1.0 (0.1-10.6)	0 (0.0%)	-	-	0 (0.0%)	-	-	1 (0.6%)	0.44	2.4 (0.22-26)
G/G-T/T	0 (0.0%)	1 (0.2%)	-	-	1 (0.4%)	-	-	1 (0.8%)	-	-	0 (0.0%)	-	-

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