Table 1 Prevalence of mutations in the Chek2 kinase gene in patients with prostate cancer and controls, with corresponding odds ratios.

Mutation case	Frequency (%)	OR (95% CI)	p Value
CHEK2 mutation
Controls	321/5496 (5.8)	1.0
Unselected cases	184/1864 (9.9)	1.8 (1.5 to 2.1)	<0.001
Familial cases	42/249 (16.9)	3.3 (2.3 to 4.6)	<0.001
Large deletion
Controls	24/5496 (0.4)	1.0
Unselected cases	15/1864 (0.8)	1.9 (0.97 to 3.5)	0.09
Familial cases	4/249 (1.6)	3.7 (1.3 to 10.8)	0.03
1100delC
Controls	12/5496 (0.2)	1.0
Unselected cases	14/1864 (0.8)	3.5 (1.6 to 7.5)	0.002
Familial cases	3/249 (1.2)	5.6 (1.6 to 19.9)	0.02
IVS2+1G→A
Controls	22/5496 (0.4)	1.0
Unselected cases	15/1864 (0.8)	2.0 (1.05 to 3.9)	0.052
Familial cases	5/249 (2.0)	5.1 (1.9 to 13.6)	0.002
Any truncating mutation
Controls	58/5496 (1.1)	1.0
Unselected cases	44/1864 (2.4)	2.3 (1.5 to 3.4)	<0.001
Familial cases	12/249 (4.8)	4.7 (2.5 to 9.0)	<0.001
I157T
Controls	264/5496 (4.8)	1.0
Unselected cases	142/1864 (7.6)	1.6 (1.3 to 2.0)	<0.001
Familial cases	30/249 (12.0)	2.7 (1.8 to 4.1)	<0.001

Frequency is calculated as the ratio of number of carriers to total number.

Two patients and one control had both truncating and missense mutations.

Two patients and two controls were homozygotic for the I157T variant.