Table 2.

SNP Genotype Distributions and Associations with Ovarian Cancer Risk

Mutation	Genotype	Unaffected N (%)	Affecteda N (%)	HR	95% CI	P-value
8q24–rs10088218
BRCA1	GG	7,978 (76.1)	1,574 (76.3)	1
	AG	2,325 (22.2)	461 (22.4)	0.93	0.83–1.05
	AA	176 (1.7)	27 (1.3)	0.61	0.41–0.91
	2-df test					0.032
	per allele			0.89	0.81–0.99	0.029
BRCA2	GG	4,865 (74.7)	485 (79.0)	1
	AG	1,537 (23.6)	116 (18.9)	0.73	0.59–0.91
	AA	113 (1.7)	13 (2.1)	1.12	0.61–2.04
	2-df test					0.014
	per allele			0.81	0.67–0.98	0.033
3q25–rs2665390
BRCA1	TT	8,242 (85.6)	1,623 (83.1)	1
	TC	1,330 (13.8)	314 (16.1)	1.25	1.08–1.44
	CC	58 (0.6)	17 (0.9)	1.57	0.91–2.69
	2-df test					2.7 × 10−3
	per allele			1.25	1.10–1.42	6.1 × 10−4
BRCA2	TT	5,226 (85.3)	449 (78.6)	1
	TC	862 (14.1)	118 (20.7)	1.58	1.26–1.98
	CC	38 (0.6)	4 (0.7)	1.20	0.34–4.19
	2-df test					3.2 × 10−4
	per allele			1.48	1.21–1.83	1.8 × 10−4
2q31–rs717852
BRCA1	TT	4,134 (47.0)	863 (45.3)	1
	CT	3,807 (43.2)	862 (45.3)	1.11	0.99–1.23
	CC	864 (9.8)	179 (9.4)	1.06	0.88–1.27
	2-df test					0.18
	per allele			1.06	0.98–1.14	0.16
BRCA2	TT	3,029 (48.6)	245 (42.0)	1
	CT	2,645 (42.4)	272 (46.6)	1.30	1.08–1.56
	CC	558 (9.0)	67 (11.5)	1.51	1.13–2.01
	2-df test					3.2 × 10−3
	per allele			1.25	1.10–1.42	6.6 × 10−4
17q21–rs9303542
BRCA1	TT	5,695 (54.2)	1,076 (52.3)	1
	TC	4,085 (38.9)	826 (40.1)	1.08	0.98–1.20
	CC	729 (6.9)	157 (7.6)	1.15	0.95–1.40
	2-df test					0.17
	per allele			1.08	1.00–1.17	0.06
BRCA2	TT	3,445 (53.0)	296 (48.3)	1
	TC	2,593 (39.9)	264 (43.1)	1.19	1.00–1.42
	CC	462 (7.1)	53 (8.7)	1.31	0.95–1.81
	2-df test					0.082
	per allele			1.16	1.02–1.33	0.026

^aOvarian cancer.

Analysis restricted to mutation carriers of white European ancestry.