Table 4.

Combined effects of risk alleles of missense SNPs in each pathway

Pathway	No. of risk alleles	Cases (%)	Controls (%)	OR (95% CI)	P, trend
BER	3–5	58 (24.5)	102 (21.7)	1.00
	6	88 (37.1)	152 (32.3)	1.00 (0.66 – 1.52)
	7	64 (27.0)	142 (30.1)	0.80 (0.52 – 1.24)
	8–9	27 (11.4)	75 (15.9)	0.63 (0.36 – 1.09)
	Per allele			0.88 (0.76 – 1.02)	0.09
NER	5– 9	93 (39.2)	190 (40.3)	1.00
	10	57 (24.1)	96 (20.4)	1.21 (0.80 – 1.84)
	11	41 (17.3)	102 (21.7)	0.82 (0.53 – 1.28)
	12–16	46 (19.4)	83 (17.6)	1.16 (0.74 – 1.80)
	Per allele			1.01 (0.92 – 1.11)	0.83
DSB-HR	3–5	74 (31.2)	138 (29.3)	1.00
	6	67 (28.3)	145 (30.8)	0.86 (0.57 – 1.30)
	7	46 (19.4)	107 (22.7)	0.80 (0.51 – 1.25)
	8–12	50 (21.1)	81 (17.2)	1.15 (0.73 – 1.81)
	Per allele			0.99 (0.89 – 1.11)	0.84
DSB-NHEJ	2–3	31 (13.1)	96 (20.4)	1.00
	4	179 (75.5)	329 (69.9)	1.69 (1.08 – 2.64)
	5–6	27 (11.4)	46 (9.8)	1.92 (1.02 – 3.60)
	Per allele			1.37 (1.03 – 1.82)	0.03
MMR	2–4	82 (34.6)	188 (39.9)	1.00
	5	72 (30.4)	114 (24.2)	1.47 (0.99 – 2.18)
	6	46 (19.4)	87 (18.5)	1.23 (0.79 – 1.92)
	7–10	37 (15.6)	82 (17.4)	1.03 (0.65 – 1.65)
	Per allele			1.07 (0.96 – 1.18)	0.22
DNA Polymerase	3–4	38 (16.0)	70 (14.9)	1.00
	5	89 (37.6)	179 (38.0)	0.92 (0.57 – 1.47)
	6	95 (40.1)	172 (36.5)	1.01 (0.63 – 1.62)
	7–8	15 (6.3)	50 (10.6)	0.55 (0.27 – 1.11)
	Per allele			0.94 (0.78 – 1.13)	0.50
	0–3	70 (29.5)	130 (27.6)	1.00
Fanconi Anemia groups	4	96 (40.5)	197 (41.8)	0.88 (0.60 – 1.29)
	5	59 (24.9)	119 (25.3)	0.91 (0.59 – 1.39)
	6	12 (5.1)	25 (5.3)	0.86 (0.40 – 1.82)
	Per allele			0.97 (0.83 – 1.14)	0.69