Table 2.

Evaluation of associations between SNPs and breast cancer risk among BRCA1 and BRCA2 mutation carriers of European ancestry

SNP/		Unaffected	Affecteda
Mutation	Genotype	N (%)	N (%)	HR	95% CI	p-value
rs8170 – 19p13.1
BRCA 1	GG	3870 (67.5)	3755 (63.3)	1.00
	AG	1689 (29.4)	1950 (32.9)	1.22	1.14 – 1.31
	AA	178 (3.1)	227 (3.8)	1.35	1.13 – 1.62
	per allele			1.20	1.13 – 1.28	8.7×10−9
BRCA 2	GG	2047 (66.3)	2501 (68.2)	1.00
	AG	931 (30.2)	1026 (28.0)	0.93	0.84 – 1.03
	AA	108 (3.5)	138 (3.8)	1.16	0.89 – 1.52
	per allele			0.98	0.90 – 1.07	0.67
rs67397200 – 19p13.1
BRCA 1	CC	2536 (51.0)	2455 (46.0)	1.00
	GC	2022 (40.6)	2397 (44.9)	1.24	1.16 – 1.34
	GG	415 (8.4)	487 (9.1)	1.25	1.10 – 1.43
	per allele			1.17	1.11 – 1.23	2.4×10−8
BRCA 2	CC	1553 (49.8)	1871 (50.7)	1.00
	GC	1302 (41.7)	1494 (40.5)	0.95	0.87 – 1.04
	GG	265 (8.5)	323 (8.8)	1.07	0.91 – 1.27
	per allele			1.00	0.93 – 1.07	0.97
rs311499 – 20q13.3
BRCA 1	GG	5346 (86.2)	5484 (85.9)	1.00
	AG	816 (13.2)	873 (13.7)	1.03	0.94 – 1.13
	AA	41 (0.7)	28 (0.4)	0.67	0.42 – 1.08
	per allele			1.00	0.91 – 1.09	0.94
BRCA 1	GG	2873 (86.6)	3312 (87.0)	1.00
	AG	429 (13.0)	475 (12.5)	0.94	0.82 – 1.07
	AA	16 (0.5)	21 (0.6)	0.97	0.60 – 1.57
	per allele			0.95	0.84 – 1.07	0.36
rs16917302 - 10q21.2
BRCA 1	AA	4913 (79.3)	5084 (79.7)	1.00
	CA	1216 (19.6)	1222 (19.2)	0.96	0.88 – 1.01
	CC	71 (1.1)	73 (1.1)	0.94	0.69 – 1.27
	per allele			0.96	0.89 – 1.03	0.27
BRCA 2	AA	2583 (77.9)	3101 (81.5)	1.00
	CA	691 (20.8)	674 (17.7)	0.82	0.74 – 0.92
	CC	41 (1.2)	32 (0.8)	0.78	0.49 – 1.23
	per allele			0.83	0.75 – 0.93	7.0×10−4

^aBreast cancer