|
Gene
|
ER status
|
Grade
|
Diagnosis <50 years
|
Diagnosis ≥50-70 years
|
|---|
|
% Carriers (CIMBA)
|
% BCAC
|
LR
|
(95% CI)
|
% Carriers (CIMBA)
|
% BCAC
|
LR
|
(95% CI)
|
|---|
|
BRCA1
|
ER negative
|
Grade 1
|
0.8
|
1.4
|
0.59
|
(0.36-0.98)
|
0.6
|
1.2
|
0.51
|
(0.18-1.40)
|
|
ER negative
|
Grade 2
|
9.8
|
6.7
|
1.36
|
(1.18-1.58)
|
13.3
|
6.1
|
2.34
|
(1.88-2.91)
|
|
ER negative
|
Grade 3
|
67.1
|
20.8
|
3.16
|
(2.96-3.37)
|
54.5
|
12.8
|
4.13
|
(3.70-4.62)
|
|
ER positive
|
Grade 1
|
1.0
|
13.7
|
0.08
|
(0.05-0.12)
|
2.3
|
20.6
|
0.11
|
(0.07-0.18)
|
|
ER positive
|
Grade 2
|
7.4
|
36.1
|
0.21
|
(0.18-0.24)
|
14.6
|
43.6
|
0.34
|
(0.28-0.42)
|
|
ER positive
|
Grade 3
|
13.9
|
21.2
|
0.64
|
(0.57-0.72)
|
14.7
|
15.8
|
0.90
|
(0.73-1.10)
|
| | |
100%
|
100%
| | |
100%
|
100%
| | |
|
-
|
Grade 1
|
2.1
|
15.8
|
0.13
|
(0.10-0.16)
|
2.9
|
22.3
|
0.12
|
(0.08-0.18)
|
|
Grade 2
|
18.1
|
42.8
|
0.38
|
(0.34-0.42)
|
28.7
|
49.1
|
0.57
|
(0.50-0.65)
|
|
Grade 3
|
79.8
|
41.4
|
1.67
|
(1.62-1.78)
|
68.4
|
28.6
|
2.20
|
(2.01-2.71)
|
| | |
100%
|
100%
| | |
100%
|
100%
| | |
|
ER negative
|
-
|
77.5
|
28.8
|
2.60
|
(2.47-2.73)
|
69.4
|
19.9
|
3.31
|
(3.03-3.61)
|
|
ER positive
|
22.5
|
71.2
|
0.32
|
(0.29-0.34)
|
30.6
|
80.1
|
0.37
|
(0.32-0.42)
|
| | |
100%
|
100%
| | |
100%
|
100%
| | |
|
BRCA2
|
ER negative
|
Grade 1
|
0.7
|
1.4
|
0.51
|
(0.25-1.05)
|
1
|
1.2
|
0.86
|
(0.36-2.08)
|
|
ER negative
|
Grade 2
|
3.4
|
6.7
|
0.49
|
(0.36-0.68)
|
5.2
|
6.1
|
0.89
|
(0.60-1.32)
|
|
ER negative
|
Grade 3
|
14.6
|
20.8
|
0.69
|
(0.59-0.80)
|
20.8
|
12.8
|
1.54
|
(1.27-1.88)
|
|
ER positive
|
Grade 1
|
4.9
|
13.7
|
0.37
|
(0.28-0.48)
|
6.6
|
20.6
|
0.32
|
(0.22-0.45)
|
|
ER positive
|
Grade 2
|
37.8
|
36.1
|
1.07
|
(0.97-1.17)
|
37.5
|
43.6
|
0.89
|
(0.77-1.02)
|
|
ER positive
|
Grade 3
|
38.7
|
21.2
|
1.77
|
(1.60-1.95)
|
28.9
|
15.8
|
1.76
|
(1.49-2.08)
|
| | |
100%
|
100%
| | |
100%
|
100%
| | |
|
-
|
Grade 1
|
5.7
|
15.8
|
0.33
|
(0.26-0.41)
|
8.6
|
22.3
|
0.35
|
(0.27-0.46)
|
|
Grade 2
|
41.8
|
42.8
|
0.88
|
(0.80-0.95)
|
42.0
|
49.1
|
0.81
|
(0.72-0.92)
|
|
Grade 3
|
52.5
|
41.4
|
1.08
|
(1.00-1.17)
|
49.4
|
28.6
|
1.52
|
(1.35-1.71)
|
| | |
100%
|
100%
| | |
100%
|
100%
| | |
| |
ER negative
|
-
|
19.2
|
28.8
|
0.66
|
(0.59-0.74)
|
25.1
|
19.9
|
1.18
|
(1.01-1.38)
|
|
ER positive
|
80.8
|
71.2
|
1.15
|
(1.08-1.22)
|
74.9
|
80.1
|
0.90
|
(0.82-0.98)
|
| | |
100%
|
100%
| | |
100%
|
100%
| | |
- *Analyses stratified by country, as detailed in the methods section. LR, Likelihood ratio; ER, breast tumor estrogen-receptor status; BCAC, Breast Cancer Association Consortium, No known mutation status.
- ER-Grade analysis included tumor phenotypes from 3,039 BRCA1 mutation carriers (2,393 < 50 years at diagnosis, 646 ≥ 50 years), 1,718 BRCA2 mutation carriers (1,217 < 50 years at diagnosis, 501 ≥ 50 years) and 36,603 BCAC cases with no report of positive BRCA1/2 mutation status (12,584 < 50 years at diagnosis, 24,019 ≥ 50 years). Grade analysis included tumor phenotypes from 3,587 BRCA1 mutation carriers (2,825 < 50 years at diagnosis, 762 ≥ 50 years), 2,010 BRCA2 mutation carriers (1,415 < 50 years at diagnosis, 595 ≥ 50 years) and 41,545 BCAC cases with no report of positive BRCA1/2 mutation status (14,678 < 50 years at diagnosis). ER analysis included tumor phenotypes from 3,929 BRCA1 mutation carriers (3,106 < 50 years at diagnosis, 824 ≥ 50 years), 2,273 BRCA2 mutation carriers (1,616 < 50 years at diagnosis, 657 ≥ 50 years), and 42,623 BCAC cases with no report of positive BRCA1/2 mutation status (14,484 < 50 years at diagnosis, 28,139 ≥ 50 years). Percentages may not total 100 because of rounding error.
