Table 3

Pathogenic germline mutations identified in this study

Patient ID	Age, years	Gender	Gene symbol	Nucleotide change	Allele count in this study	Allele frequency in general population*	OR	95% CI	Annotation
1	73	Male	BRCA2	c.C3109T	1	4.09216E-06	63.56	3.975–1016	P
2	48	Male	BRIP1	c.C1066T	1	8.12704E-06	32	2.901–353.0	P
3	66	Male	RAD50	c.2157dupA	3	0.000268067	2.911	0.9139–9.274	P
4	56	Male
5	50	Male
6	NA	NA	APC	c.4508_4511del	1	.	NA	NA	P
7	64	Female	RAD51C	c.390dupA	1	3.70044E-05	7.028	0.8902–55.49	P
8	53	Male	AXIN2	c.C1966T	1	NA	NA	NA	P
9	52	Male	MLH1	c.C793T	1	NA	NA	NA	P
10	46	Male	MSH2	c.C1147T	1	NA	NA	NA	P
11	84	Male	MRE11A	c.659+1G>A	1	2.03676E-05	12.77	1.491–109.3	P
12	22	Male	MSH2	c.C2038T	1	4.06147E-06	64.04	4.005–1024	P
13	65	Female	RAD51C	c.905-2A>C	2	8.12566E-06	64.03	9.017–454.7	P
14	44	Female
15	25	Female	MSH2	c.1786_1788del	2	4.06105E-06	128.1	11.61–1413	P
16	NA	NA
17	37	Male	MSH2	c.C1861T	1	NA	NA	NA	P
18	63	Female	BRCA1	c.4186-2A>G	1	NA	NA	NA	P
19	76	Female	ATM	c.7878_7882del	1	4.07176E-06	63.87	3.994–1021	P
20	54	Male	BRCA2	c.7976+1G>A	1	NA	NA	NA	P
21	46	Male	APC	c.C1495T	1	NA	NA	NA	P
22	47	Male	PTEN	c.963delA	1	NA	NA	NA	P
22	47	Male	EXT2	c.C166T	1	1.21849E-05	21.34	2.220–205.2	P
22	47	Male	APC	c.C4348T	1	0	191.9	7.815–4710	P
22	47	Male	APC	c.4385_4386del	1	NA	NA	NA	P
22	47	Male	BRCA1	c.C4327T	1	2.43756E-05	10.67	1.284–88.64	P
22	47	Male	BRCA2	c.9090delA	1	1.24512E-05	20.89	2.172–200.8	P
23	21	Female	APC	c.532-2A>G	1	NA	NA	NA	P
24	43	Male	MLH1	c.C350T	2	4.06246E-06	128.1	11.61–1413	P
25	33	Male
26	32	Male	MSH2	c.388_389del	1	NA	NA	NA	P
27	71	Male	BRCA2	c.3854delA	1	0.000015582	16.69	1.736–160.5	P
28	65	Male	MSH2	c.1452_1455del	3	NA	NA	NA	P
29	30	Female
30	61	Female
31	35	Male	MSH2	c.G2245T	1	NA	NA	NA	P
32	45	Male	FLCN	c.1285dupC	1	5.39204E-05	4.823	0.6308–36.88	P
33	NA	Male	BRCA1	c.5407-2A>G	1	NA	NA	NA	P
34	42	Female	BRIP1	c.C2392T	1	0.000173402	1.5	0.2063–10.90	P
35	45	Male	PALB2	c.1059delA	1	NA	NA	NA	P
36	34	Male	MLH1	c.1377dupA	1	NA	NA	NA	P
37	42	Male	MSH6	c.C2731T	3	3.22893E-05	24.18	3.606–314.1	P
38	48	Male
39	62	Male
40	49	Female	RAD50	c.2980_2983del	1	4.47635E-05	5.81	0.7499–45.01	P
41	50	Female	APC	c.C3340T	1	NA	NA	NA	P
42	34	Female	APC	c.4014delG	1	NA	NA	NA	P
43	43	Female	MUTYH	c.G467A	5	5.71088E-05	22.79	8.206–63.31	P
44	60	Female
45	48	Male
46	57	Male
47	52	Male
48	65	Male	TP53	c.442+1G>A	1	0	192	7.821–4715	P
49	30	Female	APC	c.453-2A>T	1	NA	NA	NA	P
50	46	Male	BLM	c.319dupT	1	0.000012193	21.33	2.218–205.1	P
51	NA	NA	MLH1	c.208-1G>A	1	NA	NA	NA	P
52	66	Male	BRCA1	c.1039_1040del	1	NA	NA	NA	P
53	52	Female	MAX	c.359delA	1	NA	NA	NA	P
54	42	Male	PTEN	c.672dupA	1	NA	NA	NA	P
55	58	Male	MSH6	c.C2194T	1	4.07159E-06	63.88	3.995–1021	P
56	50	Female	MSH2	c.227_228del	1	NA	NA	NA	P
57	67	Female	BLM	c.295_296del	1	8.12691E-06	32	2.901–353.0	P
58	53	Male	BRCA1	c.G3196T	1	NA	NA	NA	P
59	50	Male	ATM	c.C7792T	1	8.17401E-06	31.82	2.884–351.0	P
60	63	Female	TP53	c.673-2A>G	1	NA	NA	NA	P
61	47	Male	MLH1	c.G677A	2	NA	NA	NA	P
62	43	Male
63	48	Male	BRCA1	c.C4372T	1	NA	NA	NA	P
64	52	Male	APC	c.3955delC	1	NA	NA	NA	P
64	52	Male	TP53	c.G733A	1	0	192.1	7.825–4716	P
65	64	Female	RET	c.G1998C	1	NA	NA	NA	P
66	51	Male	PALB2	c.T2108G	1	8.12156E-06	32.02	2.903–353.2	P
67	71	Female	APC	c.4661dupA	1	NA	NA	NA	P
68	47	Female	PMS2	c.C1882T	1	1.62442E-05	16.01	1.789–143.3	P
69	38	Female	MSH2	c.A1648T	1	NA	NA	NA	P
70	70	Female	APC	c.C646T	1	4.08037E-06	63.74	3.986–1019	P
71	51	Male	MRE11A	c.1843-1G>T	1	NA	NA	NA	P
72	75	Male	RAD50	c.2498_2499del	1	4.06593E-05	6.396	0.8186–49.98	P
73	61	Male	PMS2	c.C943T	1	2.03169E-05	12.8	1.495–109.6	P
74	56	Male	BRCA1	c.C2599T	1	NA	NA	NA	P
75	57	Female	APC	c.C481T	1	NA	NA	NA	P
76	70	Male	ATM	c.8816_8826del	1	NA	NA	NA	P
77	63	Male	ATM	c.1402_1403del	1	4.06213E-05	6.402	0.8194–50.02	P
78	61	Male	BRCA1	c.981_982del	1	NA	NA	NA	P
79	46	Male	MSH2	c.630delG	1	NA	NA	NA	P
80	39	NA	RAD50	c.2157delA	2	0.000136161	3.821	0.9153–15.95	P
81	NA	NA
81	NA	NA	AXIN2	c.1994delG	1	0	187.2	7.624–4595	P
82	38	Female	APC	c.3867_3871del	1	8.13643E-06	31.96	2.898–352.6	P
83	35	Female	APC	c.C2413T	1	NA	NA	NA	P
84	35	Male	MSH2	c.G1111T	1	NA	NA	NA	P
85	69	Male	ATM	c.7141_7151del	1	NA	NA	NA	P
				Overall		3.08701E-05	11.31	8.289–15.44

*Data from gnomAD.