Table 2.

Germline mutations in African American patients with primary breast cancer with young age at diagnosis (Br dx <45), family history of breast cancer younger than age 60 (FH Br <60) or of ovarian cancer (FH Ov), or triple-negative breast cancer (TNBC)

Patient BROCA ID	Age dx	Gene	Mutation (BRCA1 U14680; BRCA2 U43746)	Br dx <45	FH Br <60	FH Ov	Self Br+Ov	TNBC	Breast Ca type	ER	PR	HER2	Stage	Grade
390	34	BRCA1	del exons 1–19 (>64,761 bp)	Yes	Yes	Yes	No	Yes	IDC	Neg	Neg	Neg	2	III
389	39	BRCA1	C61Y	Yes	Yes	No	No	Yes	IDC	Neg	Neg	Neg	1	II
179	49	BRCA1	C64G	No	Yes	No	No	Unk	Br nos
372	34	BRCA1	943ins10	Yes	Yes	No	No	No	IDC	Pos	Neg	Neg	1	III
227	34	BRCA1	943ins10	Yes	Unk	Unk	No	Yes	IDC	Neg	Neg	Neg	1	III
391	33	BRCA1	Q491X	Yes	Yes	Yes	No	Yes	IDC	Neg	Neg	Neg	1
285	37	BRCA1	1759delATAA	Yes	No	No	No	Yes	IDC	Neg	Neg	Neg	2	II
347	34	BRCA1	1832delAGAAT	Yes	Yes	No	Ov 46	No	IDC	Pos	Neg		2	III
343	43	BRCA1	1832delAGAAT	Yes	Yes	No	No	Unk	Br nos
393	48	BRCA1	3347delAG	No	Yes	No	No	Yes	IDC	Neg	Neg	Neg	2	III
201	42	BRCA1	S1212X	Yes	Yes	No	No	Unk	Br nos
411	38	BRCA1	E1222X	Yes	Yes	No	No	Yes	IDC	Neg	Neg	Neg	1	III
427	37	BRCA1	K1290X	Yes	Unk	Unk	No	Unk	Br nos
338	28	BRCA1	3883insA	Yes	Yes	No	No	No	IDC	Pos	Pos	Neg	2	III
452	37	BRCA1	3890delGGinsC	Yes	No	No	No	Yes	IDC	Neg	Neg	Neg	3	III
141	34	BRCA1	Q1604X	Yes	Unk	Unk	No	Unk	Br nos	Neg	Neg		2	III
255	46	BRCA1	del ex17 (3,118 bp)	No	Yes	No	No	Yes	IDC	Neg	Neg	Neg	1	III
251	43	BRCA1	5296delGAAA	Yes	Yes	Yes	No	Unk	Br nos
345	38	BRCA1	5296delGAAA	Yes	Yes	Yes	No	Unk	IDC				3	III
380	29	BRCA1	5296delGAAA	Yes	Yes	No	Ov 49	Unk	Br nos
409	24	BRCA1	5296delGAAA	Yes	Yes	No	Ov 45	Unk	IDC				1
234	29	BRCA1	5296delGAAA	Yes	No	No	No	No	IDC	Pos	Neg	Neg	2	III
123	40	BRCA1	5312(ivs19)(+1)G>A	Yes	No	Yes	No	Yes	IDC	Neg	Neg	Neg	2	III
180	35	BRCA1	R1751X	Yes	Yes	No	No	Unk	Br nos
344	29	BRCA1	R1751X	Yes	Yes	No	No	Yes	IDC	Neg	Neg	Neg	3	III
186	39	BRCA1	M1775R	Yes	Yes	Yes	No	Unk	Br nos
473	60	BRCA1	IVS23+1G>A	No	Yes	No	No	Yes	IDC	Neg	Neg	Neg	1	II
476	31	BRCA1	IVS23+1G>A	Yes	No	No	No	No	IDC	Pos	Neg	Neg	1	III
487	59	BRCA1	del (ex 24+3UTR)	No	Yes	No	No	No	IDC	Neg	Neg	Pos	3	III
386	46	BRCA2	746delG	No	Yes	No	No	No	IDC	Pos
407	38	BRCA2	886delGT	Yes	Yes	Yes	No	Unk	Br nos
455	53	BRCA2	886delGT	No	Yes	No	No	Yes	Br nos
340	40	BRCA2	1433delG	Yes	No	No	No	Yes	IDC	Neg	Neg	Neg	3	II
272	54	BRCA2	2808delA	No	Yes	No	No	Yes	IDC	Neg	Neg	Neg	1	III
260	44	BRCA2	2808delAAAC	Yes	Unk	Unk	No	Yes	IDC	Neg	Neg	Neg	4	III
335	33	BRCA2	2816insA	Yes	Yes	Yes	No	No	IDC	Pos	Pos		2	III
273	35	BRCA2	3034delAAAC	Yes	yes	No	No	Yes	IDC	Neg	Neg	Neg	3	III
397	42	BRCA2	3036del4	Yes	Yes	Yes	No	No	IDC	Pos	Pos	Neg	2	II
157	21	BRCA2	K944X	Yes	No	No	No	Unk	IDC
441	66	BRCA2	4355del4	No	Yes	No	No	No	IDC	Pos	Pos	Neg	1	III
447	38	BRCA2	4682del4	Yes	Yes	No	No	Yes	Br nos	Neg	Neg	Neg
432	34	BRCA2	4959delA	Yes	Yes	Yes	no	Yes	IDC	Neg	Neg	Neg	1	III
600	51	BRCA2	5579insA	No	Yes	No	No	Unk	Br nos
504	43	BRCA2	5844del5	Yes	Yes	No	No	Yes	IDC	Neg	Neg	Neg	2	III
454	36	BRCA2	5844del5	Yes	Unk	Unk	No	No	IDC	Pos	Neg	Neg	2	II
497	52	BRCA2	5920delG	No	Yes	Yes	No	No	IDC	Pos	Pos	Neg
110	35	BRCA2	5946delCT	Yes	Yes	No	No	Yes	IDC	Neg	Neg	Neg	3	III
290	40	BRCA2	7297delCT	Yes	Unk	Unk	No	Yes	IDC	Neg	Neg	Neg	1	III
450	39	BRCA2	R2520X	Yes	Yes	No	No	No	IDC	Pos	Pos	Neg	2	III
342	51	BRCA2	7795delCT	No	Yes	No	No	No	Br nos	Pos	Pos		1
439	54	BRCA2	8529delT	No	Yes	No	Ov 48	Unk	Br nos	Neg
276	31	BRCA2	R3128X*	Yes	No	No	No	No	IDC	Pos	Pos	Pos
185	51	ATM	c.6404insTT	No	Unk	Unk	No	Yes	IDC	Neg	Neg	Neg	1	II
318	29	ATM	Y2755X	Yes	No	No	No	No	IDC	Pos	Pos		3
307	58	ATM	del ex62–63 (9,769 bp)	No	Yes	No	No	No	IDC	Pos	Pos	Pos	1	III
448	52	BARD1	S551X	No	Yes	No	No	No	IDC	Pos	Pos	Neg	2	III
312	34	CHEK2	R160G****	Yes	Yes	No	No	No	IDC	Pos	Pos		3	III
262	35	CHEK2	H186R	Yes	No	No	No	No	IDC	Pos	Pos	Neg	1	II
101	33	CHEK2	G210R homozygous	Yes	Unk	Unk	No	Yes	IDC	Neg	Neg	Neg	3	III
187	45	PALB2	758insT	No	Yes	No	no	No	IDC	Pos	Pos	Neg	2	II
155	36	PALB2	1479delC	Yes	Yes	No	No	No	IDC	Pos	Pos	Neg	2	III
191	60	PALB2	3048delT	No	No	No	No	Yes	IDC	Neg	Neg	Neg	3	II
333	35	PTEN	R335X	Yes	No	No	No	Yes	IDC	Neg	Neg	Neg	2	II
248	43	PTEN	c.1027(ivs8)(−1)G>T	Yes	Yes	No	No	No	IDC	Pos			1
446	32	TP53	P278A	Yes	Unk	Unk	No	No	IDC	Neg	Neg	Pos	2	II

^* This patient also carried an ATM (p.R248X) mutation; ^** This patient also carried a ATM p.R457X mutation