Clinical and molecular characterization of BRCA-associated breast cancer: results from the DBCG

Figures & data

Figure 1: Patients flowchart.

Table 1. Patient and tumor characteristics.

	Patients
	BRCA1		BRCA2
	n	%	n	%
Variable	141	59	96	41
Age
18–39	66	47	31	32
40–60	62	44	52	54
>60	13	9	13	14
Year of diagnosis
1998–1999	1	1	1	1
2000–2004	29	21	20	21
2005–2009	86	61	58	60
2010–2011	25	18	17	18
Menopausal status at diagnosis
Premenopausal	111	79	64	67
Postmenopausal	29	21	32	33
Unknown	1	1	0	0
Histology
Ductal	129	91	85	89
Lobular	0	0	5	5
Other	12	9	6	6
Tumor size
≤10 mm	19	13	17	18
11–20 mm	64	45	40	42
21–50 mm	56	40	36	38
>50 mm	2	1	3	3
Grade
1	3	2	8	8
2	29	21	40	42
3	97	69	41	43
Non-ductal/non-lobular histology	12	9	6	6
Missing	0	0	1	1
Positive lymph nodes
0	82	58	34	35
1–3 positive	41	29	47	49
≥ 4 positive	18	13	14	15
Unknown	0	0	1	1
Bilateral breast cancer
Yes	2	1	3	3
No	136	97	92	96
Unknown	3	2	1	1
ER status
Positive	44	31	76	79
Negative	97	69	20	21
PR status
Positive	35	25	67	70
Negative	106	75	29	30
HER2 status
Positive	6	4	6	6
Negative	134	95	89	93
Unknown	1	1	1	1
TN
Yes	91	65	19	20
No	50	35	77	80
Surgery
Mastectomy	76	54	54	56
Breast conserving surgery	65	46	42	44
Systemic therapy
None	2	1	1	1
Chemotherapy alone	106	75	23	24
Chemotherapy and endocrine therapy	28	20	59	61
Endocrine therapy alone	5	4	13	14
Radiation therapy
Yes	84	60	72	75
No	42	30	16	17
Unknown	15	11	8	8
RRCM
Yes	95	67	52	54
No	46	33	44	46
RRSO
Yes	132	94	90	94
No	9	6	6	6
RRCM only
Before BC surgery	0	0	0	0
≤2 years after BC surgery	3	2	1	1
>2 years after BC surgery	2	1	0	0
RRSO only
Before BC surgery	3	2	6	6
≤2 years after BC surgery	26	18	28	29
>2 years after BC surgery	13	9	5	5
RRSO and RRCM
Before BC surgery	1	1	0	0
≤2 years after BC surgery	66	47	33	34
>2 years after BC surgery	23	16	18	19

ER: estrogen receptor; HER2: human epidermal growth factor Receptor 2; PR: progesterone receptor; TN: triple negative, RRCM: risk reducing contralateral mastectomy; RRSO: risk reducing salpingo-oophorectomy.

Figure 2: (a,b) DFS and OS according to BRCA1/2 status; (c,d) Disease free- and overall survival according to adjuvant treatment with or without chemotherapy.

Table 2. Ten-year OS and DFS according to tumor- and patient characteristics.

	BRCA1/2
	OS	DFS
	10 year, % (95% CI)	10 year, % (95% CI)
All	82 (76–87)	78 (71–83)
BRCA mutation
2	88 (78–94)	84 (74–91)
1	78 (69–85)	74 (64–81)
ER
Positive	85 (75–91)	79 (68–86)
Negative	80 (70–87)	77 (67–84)
HER2
Negative	82 (76–88)	79 (72–84)
Positive	83 (46–95)	64 (30–85)
TN
No	85 (75–91)	78 (69–85)
Yes	80 (70–87)	77 (67–85)
Positive lymph nodes
No	86 (76–92)	82 (72–89)
Yes	79 (69–86)	73 (64–81)
Tumor size
0–20 mm	87 (79–92)	80 (70–86)
>20mm	75 (63–84)	75 (65–83)
Grade
1	83 (27–97)	86 (33–98)
2	82 (66–91)	80 (68–88)
3	82 (73–88)	75 (66–82)
Not ductal/lobular	89 (64–97)	88 (61–97)
Chemotherapy
No	74 (49–89)	67(39–84)
Yes	83 (76–88)	79 (72–85)

ER: estrogen receptor; HER2: human epidermal growth factor receptor 2; TN: triple negative; OS: overall survival; DFS: disease free survival.

Table 3. Prognostic impact of tumor- and patient characteristics.

	Overall survival
	Univariate		Multivariate
	HR (95% CI)	p value	HR (95% CI)	p value
BRCA mutation
21	1 1.87 (0.91–3.87)	.09	1 1.98 (0.87–4.52)	.10
ER < seven years follow-up
Positive Negative	1 2.3 (1.05–5.15)	.03	1 2.81 (1.09–7.27)	.03
ER > seven years follow-up
Positive Negative	1 0.5 (0.13–2.06)	.33	–	–
HER2
Negative Positive	1 0.91 (0.22–3.82)	.90	–	–
Positive lymph nodes
No Yes	1 1.54 (0.79–3.00)	.20	1 1.86 (0.94–3.68)	.08
Tumor size
0–20 mm >20 mm	1 1.84 (0.96–3.52)	.07	–	–
Chemotherapy
Yes No	1 1.86 (0.77–4.47)	.20	1 3.58 (1.29–9.97)	.01
RRCM
No Yes	1 0.43 (0.22-0.85)	.01	1 0.42 (0.21–0.84)	.01
RRSO
No Yes	1 0.74 (0.29–1.89)	.54
	Disease free survival
BRCA mutation
2 1	1 2.02 (1.04–3.90)	.04	1 2.78 (1.28–6.05)	.01
ER < seven years follow-up
Positive Negative	1 1.36 (0.74–2.50)	.32	1 1.11 (0.53–2.30)	.79
ER > seven years follow-up
Positive Negative	1 0.61(0.05–6.91)	.69	–	–
HER2
Negative Positive	1 1.67 (0.60–4.66)	.36	–	–
Positive lymph nodes
No Yes	1 1.66 (0.91–3.03)	.10	1 2.14 (1.14–4.00)	.02
Tumor size
0–20 mm >20 mm	1 1.41 (0.79–2.54)	.25	–	–
Chemotherapy
Yes No	1 1.64 (0.69–3.88)	.29	1 2.48 (0.95–6.48)	.06
RRCM
No Yes	1 0.72 (0.39–1.32)	.28	1 0.70 (0.38–1.29)	.25
RRSO
No Yes	1 0.91 (0.42–2.00)	.82	–	–

ER: estrogen receptor; HER2: human epidermal growth factor Receptor 2; PR: progesterone receptor; TN: triple negative, RRCM: risk reducing contralateral mastectomy; RRSO: risk reducing salpingo-oophorectomy.