Table 2.

Prevalence of Germline Pathogenic Mutations in 680 CRC Individuals (Discovery Set) and 27,728 Ancestry-Matched Cancer-free Adults from the ExAC Cohort

Gene	Individuals with Mutations in the Discovery Cohort (n = 680)	Prevalence of Individuals with Mutations in the Discovery Cohort	Individuals with Mutations in Ancestry-Matched Control Group (n = 27,728)	Prevalence of Mutations in the Control Group	Enrichment of Pathogenic Mutations in the Discovery Cohort (Odds Ratio; Fisher’s Exact Test)	95% Confidence Intervals (Fisher’s Exact Test)	p Value (Two-Sided Exact Binomial Test)
ATM	5	0.74%	73	0.26%	2.81	1.07–6.71	0.035
BAP1	1	0.15%	10	0.04%	4.08	0.19–27.85	0.218
BARD1	1	0.15%	13	0.05%	3.14	0.15–19.04	0.273
BLM	3	0.44%	40	0.14%	3.07	0.8–9.28	0.077
BRCA1	1	0.15%	61	0.22%	0.67	0.03–3.86	1
BRCA2	4	0.59%	89	0.32%	1.84	0.61–4.89	0.177
BRIP1	2	0.29%	42	0.15%	1.94	0.33–7.57	0.275
ERCC2	2	0.29%	40	0.14%	2.04	0.35–8.00	0.25
ERCC3	1	0.15%	80	0.29%	0.51	0.03–2.89	1
ERCC4	1	0.15%	16	0.06%	2.55	0.12–16.55	0.325
FANCC	1	0.15%	48	0.17%	0.85	0.04–5.0	1
FANCE	1	0.15%	5	0.02%	8.16	0.35–58.6	0.115
FANCL	1	0.15%	10	0.04%	4.08	0.19–27.85	0.218
GEN1	2	0.29%	18	0.06%	4.54	0.75–19.35	0.073
MRE11	2	0.29%	18	0.06%	4.54	0.75–19.35	0.073
PALB2	3	0.44%	25	0.09%	4.91	1.26–16.19	0.024
POLH	1	0.15%	7	0.03%	5.83	0.26–40.98	0.158
RECQL4	2	0.29%	50	0.18%	1.63	0.28–6.23	0.347
SLX4	1	0.15%	23	0.08%	1.77	0.09–10.49	0.431
XPA	1	0.15%	19	0.07%	2.15	0.1–13.26	0.373
XRCC3	1	0.15%	6	0.02%	6.8	0.3–50.67	0.137

Only genes with detected germline pathogenic mutations in affected individuals are shown.