Table 2.

Germline variants and clinical features.

Patient ID	Age	Stage	Histological subtype	Gene	Class	Refseq ID	Nucleotide change	Amino acid change	Breast cancer patients in family	Ovarian cancer patients in family
13	46	I	HGSC	BRCA1	frameshift deletion	NM_007300	c.2028_2029del	p.T676fs	Yes	Yes
184	59	III	HGSC	BRCA1	stopgain	NM_007300	c.C2800T	p.Q934X	—	Yes
566	49	III	HGSC	BRCA1	splicing	NM_007300	c.212 + 2T > C		—	Yes
614	56	III	HGSC	BRCA1	frameshift deletion	NM_007300	c.321delT	p.F107fs	—	—
723	72	III	HGSC	BRCA1	stopgain	NM_007300	c.C2800T	p.Q934X	—	—
843	60	III	HGSC	BRCA1	splicing	NM_007300	c.5341–1G > A		—	Yes
584	75	III	HGSC	BRCA2	frameshift deletion	NM_000059	c.9127delG	p.E3043fs	—	—
1075	56	II	HGSC	BRCA2	frameshift insertion	NM_000059	c.845_846insTTTGG	p.H282fs	—	—
1300	57	IV	HGSC	BRCA2	stopgain	NM_000059	c.C9076T	p.Q3026X	—	—
1357	62	III	HGSC	BRCA2	stopgain	NM_000059	c.C6952T	p.R2318X	Yes	—
602	61	II	CCC	BRCA2	stopgain	NM_000059	c.C9076T	p.Q3026X	—	—
152	50	I	EC	BRCA2	frameshift deletion	NM_000059	c.5718_5719del	p.N1906fs	—	—
734	61	III	MC	BRCA2	frameshift deletion	NM_000059	c.958delC	p.L320fs	—	—
210	60	III	CCC	ATM	frameshift deletion	NM_000051	c.4799delT	p.V1600fs	—	—
292	52	I	CCC	BRIP1	splicing	NM_032043	c.2098–1G > A		—	—
396	32	I	MC	CHEK1	frameshift deletion	NM_001244846	c.668delA	p.E223fs	Yes	—
90	60	III	CCC	EMSY	Non-frameshift deletion	NM_001300943	c.3289_3291del	p.1097_1097del	—	—
1133	59	II	HGSC	RAD51D	frameshift insertion	NM_002878	c.271_272insT	p.K91fs	—	—
237	86	III	CCC	RAD51D	frameshift insertion	NM_002878	c.271_272insTA	p.K91fs	—	—
390	68	I	CCC	RAD51D	frameshift insertion	NM_002878	c.271_272insTA	p.K91fs	—	—
184	59	III	HGSC	RAD54L	frameshift deletion	NM_003579	c.1961delG	p.R654fs	—	—
90	60	III	CCC	RAD54L	stopgain	NM_003579	c.1092_1093insC	p.G364_R	—	—
261	53	III	CCC	RAD54L	stopgain	NM_003579	c.1092_1093insC	p.G364_R	—	—
994	68	I	LGSC	RAD54L	stopgain	NM_003579	c.1092_1093insC	p.G364_R	—	—