A. Series 1 for development of the BRCA1 classifier | ||||
 | Training set | Validation set | ||
N | % | N | % | |
Material type | ||||
 Fresh frozen | 27 | 38 | 24 | 34 |
 FFPE | 44 | 62 | 46 | 66 |
ER status | ||||
 ER neg | 48 | 68 | 48 | 69 |
 ER pos | 21 | 30 | 21 | 30 |
 Unknown | 2 | 3 | 1 | 1 |
HER status | ||||
 HER2 neg | 24 | 34 | 21 | 30 |
 HER2 pos | 4 | 6 | 3 | 4 |
 Unknown | 43 | 61 | 56 | 66 |
Array-based BRCA1-like classification | ||||
 Non-BRCA1-like | 30 | 42 | 28 | 40 |
 BRCA1-like | 41 | 58 | 42 | 60 |
Mutation status | ||||
 BRCA1mut | 8 | 11 | 8 | 11 |
 BRCA2mut | 2 | 3 | 3 | 4 |
 Unknown | 61 | 86 | 59 | 84 |
BRCA1 promoter methylation | ||||
 Non-methylated | 39 | 55 | 36 | 51 |
 BRCA1-methylated | 14 | 20 | 12 | 17 |
 Unknown | 18 | 25 | 22 | 31 |
B. Series 2 for development of the BRCA2 classifier | ||||
 | Training set | Validation set | ||
N | % | N | % | |
Material type | ||||
 Fresh frozen | 21 | 38 | 21 | 38 |
 FFPE | 34 | 62 | 35 | 63 |
ER status | ||||
 ER neg | 13 | 24 | 16 | 29 |
 ER pos | 40 | 73 | 38 | 68 |
 Unknown | 2 | 4 | 2 | 4 |
HER status | ||||
 HER2 neg | 20 | 36 | 20 | 36 |
 HER2 pos | 5 | 9 | 4 | 7 |
 Unknown | 30 | 55 | 32 | 57 |
Array-based BRCA2-like classification | ||||
 Non-BRCA2-like | 30 | 55 | 28 | 50 |
 BRCA2-like | 25 | 46 | 28 | 50 |
Mutation status | ||||
 BRCA1mut | 1 | 13 | 1 | 13 |
 BRCA2mut | 7 | 88 | 7 | 88 |
 Unknown | 47 |  | 48 |  |
C. Series 3 for assessing treatment prediction power | ||||
 | FEC | HD-CTC | Total | pvalue |
n(%) | n(%) | n(%) | Â | |
Age | ||||
 < 40 | 17 (32%) | 20 (29%) | 37 (30%) | 0.84 |
 > 40 | 36 (68%) | 49 (71%) | 85 (70%) |  |
ER status | ||||
 Neg | 21 (40%) | 22 (32%) | 43 (35%) | 0.45 |
 Pos | 32 (60%) | 47 (68%) | 79 (65%) |  |
PR status | ||||
 Neg | 30 (57%) | 28 (41%) | 58 (48%) | 0.10 |
 Pos | 23 (43%) | 41 (59%) | 64 (52%) |  |
pT-stage | ||||
 1 | 6 (11%) | 16 (23%) | 22 (18%) | 0.03 |
 2 | 37 (70%) | 49 (71%) | 86 (70%) |  |
 3 | 10 (19%) | 4 (6%) | 14 (11%) |  |
Grade | ||||
 I | 6 (12%) | 13 (21%) | 19 (17%) | 0.17 |
 II | 16 (31%) | 25 (40%) | 41 (35%) |  |
 III | 29 (57%) | 25 (40%) | 54 (47%) |  |
No. of positive lymph nodes | ||||
 < 10 | 34 (64%) | 47 (68%) | 81 (66%) | 0.70 |
 ≥ 10 | 19 (36%) | 22 (32%) | 41 (34%) |  |
Array-based BRCA1-like classification | ||||
 Non-BRCA1-like | 39 (74%) | 56 (81%) | 95 (78%) | 0.38 |
 BRCA1-like | 14 (26%) | 13 (19%) | 27 (22%) |  |
Array-based BRCA2-like classification | ||||
 Non-BRCA2-like | 40 (75%) | 53 (77%) | 93 (76%) | 1.00 |
 BRCA2-like | 13 (23%) | 16 (23%) | 29 (24%) |  |
D. Clinical variables in patients included in the digitalMLPA analysis and in the total HER2-negative trial population | ||||
 | digitalMLPA tested,n(%) | digitalMLPA not tested,n(%) | pvalue |  |
n | 122 | 500 | Â | Â |
Age (median (SD)) | 44.00 (6.96) | 44.67 (6.12) | 0.28 | Â |
Treatment | ||||
 CONV | 53 (43.4) | 249 (49.8) | 0.25 |  |
 HD | 69 (56.6) | 251 (50.2) |  |  |
ER status | ||||
 Negative (< 10%) | 43 (35.2) | 106 (21.2) | < 0.01 |  |
 Positive (≥ 10%) | 79 (64.8) | 393 (78.6) |  |  |
 NA | 0 (0.0) | 1 (0.2) |  |  |
PR status | ||||
 Negative (< 10%) | 58 (47.5) | 170 (34.0) | 0.01 |  |
 Positive (≥ 10%) | 64 (52.5) | 319 (63.8) |  |  |
 NA | 0 (0.0) | 11 (2.2) |  |  |
pT-stage | ||||
 1 | 22 (18.0) | 129 (25.8) | 0.05 |  |
 2 | 86 (70.5) | 290 (58.0) |  |  |
 3 | 14 (11.5) | 79 (15.8) |  |  |
 NA | 0 (0.0) | 2 (0.4) |  |  |
Grade | ||||
 Grade I | 19 (15.6) | 121 (24.2) | 0.05 |  |
 Grade II | 41 (33.6) | 192 (38.4) |  |  |
 Grade III | 54 (44.3) | 176 (35.2) |  |  |
 NA | 8 (6.6) | 11 (2.2) |  |  |
No. of positive lymph nodes | ||||
 LN < 10 | 81 (66.4) | 324 (64.8) | 0.82 |  |
 LN ≥ 10 | 41 (33.6) | 176 (35.2) |  |  |
Array-based BRCA1-like classification | ||||
 Non-BRCA1-like | 95 (77.9) | 115 (23.0) | 0.05 |  |
 BRCA1-like | 27 (22.1) | 16 (3.2) |  |  |
 NA | 0 (0.0) | 369 (73.8) |  |  |
Array-based BRCA2-like classification | ||||
 Non-BRCA2-like | 93 (76.2) | 105 (21.0) | 0.27 |  |
 BRCA2-like | 29 (23.8) | 22 (4.4) |  |  |
 NA | 0 (0.0) | 373 (74.6) |  |  |