Clinical characteristics | Without GPVs (n = 2347) | All CPGs (n = 332) | BRCA1 carriers (n = 131) | BRCA2 carriers (n = 132) | Other HRR-related genes (n = 43) | Other CPGs (n = 26) | P 1 | P 2 | P 3 | P 4 | P 5 |
---|---|---|---|---|---|---|---|---|---|---|---|
Age at enrollment a | 45.2 ± 8.8 | 42.1 ± 8.4 | 40.7 ± 8.6 | 43.1 ± 7.9 | 44.0 ± 9.1 | 41.2 ± 7.7 | 2.3 × 10−9 | 1.2 × 10−8 | 7.4 × 10−4 | 0.38 | 0.02 |
Age of onset a | 43.4 ± 9.1 | 40.2 ± 8.3 | 39.1 ± 8.4 | 40.8 ± 8.0 | 41.2 ± 9.1 | 40.5 ± 7.6 | 5.7 × 10−10 | 8.6 × 10−8 | 1.2 × 10−3 | 0.11 | 0.11 |
≤40 years b | 885 (37.7%) | 186 (56.0%) | 79 (60.3%) | 67 (50.8%) | 25 (58.1%) | 15 (57.7%) | 3.5 × 10−10 | 4.6 × 10−7 | 3.2 × 10−3 | 0.01 | 0.04 |
>  40 years b | 1462 (62.3%) | 146 (44.0%) | 52 (39.7%) | 65 (49.2%) | 18 (41.9%) | 11 (42.3%) |  |  |  |  |  |
Personal history b | |||||||||||
 Any cancer | 113 (4.8%) | 39 (11.8%) | 16 (12.2%) | 18 (13.6%) | 3 (7.0%) | 2 (7.7%) | 5 × 10−6 | 9.5 × 10−4 | 1.3 × 10−4 | 0.46 | 0.36 |
 Previous breast cancer | 47 (2.0%) | 26 (7.8%) | 14 (10.7%) | 10 (7.6%) | 1 (2.3%) | 1 (3.9%) | 1.8 × 10−7 | 2.0 × 10−6 | 6.6 × 10−4 | 0.59 | 0.41 |
 Ovarian cancer | 8 (0.3%) | 4 (1.2%) | 1 (0.8%) | 3 (2.3%) | 0 (0%) | 0 (0%) | 0.05 | 0.39 | 0.02 | 1 | 1 |
Family history b | |||||||||||
 Any cancer | 726 (30.9%) | 183 (55.1%) | 85 (64.9%) | 71 (53.8%) | 15 (34.9%) | 12 (46.2%) | 3.4 × 10−17 | 1.6 × 10−14 | 1.5 × 10−7 | 0.62 | 0.13 |
 Breast cancer | 254 (10.8%) | 108 (32.5%) | 54 (41.2%) | 43 (32.6%) | 7 (16.3%) | 4 (15.4%) | 3.2 × 10−22 | 8.4 × 10−18 | 9.5 × 10−11 | 0.32 | 0.52 |
 Ovarian cancer | 18 (0.8%) | 21 (6.3%) | 19 (14.5%) | 1 (0.8%) | 0 (0%) | 1 (3.9%) | 3.8 × 10−10 | 1.2 × 10−15 | 1 | 1 | 0.19 |
 Pancreas cancer | 34 (1.5%) | 11 (3.3%) | 4 (3.1%) | 2 (1.5%) | 4 (9.3%) | 1 (3.9%) | 0.02 | 0.14 | 0.72 | 4.3 × 10−3 | 0.32 |
 Prostate cancer | 10 (0.4%) | 0 (0%) | 0 (0%) | 0 (0%) | 0 (0%) | 0 (0%) | 0.62 | 1 | 1 | 1 | 1 |
 Esophageal cancer | 82 (3.5%) | 13 (3.9%) | 7 (5.3%) | 3 (2.3%) | 2 (4.7%) | 1 (3.9%) | 0.64 | 0.23 | 0.62 | 0.66 | 0.61 |
 Laryngeal cancer | 12 (0.5%) | 5 (1.5%) | 2 (1.5%) | 2 (1.5%) | 0 (0%) | 1 (3.9%) | 0.05 | 0.17 | 0.17 | 1 | 0.13 |
 Leukemia | 13 (0.6%) | 5 (1.5%) | 1 (0.8%) | 3 (2.3%) | 0 (0%) | 1 (3.9%) | 0.06 | 0.53 | 0.05 | 1 | 0.14 |
 Male breast cancer | 2 (0.1%) | 4 (1.2%) | 0 (0%) | 4 (3.0%) | 0 (0%) | 0 (0%) | 2.8 × 10−3 | 1 | 1.1 × 10−4 | 1 | 1 |
Tumor size b | |||||||||||
 ≤ 2 cm | 1099 (46.8%) | 146 (44.0%) | 51 (38.9%) | 62 (47.0%) | 18 (41.9%) | 15 (57.7%) | 0.16 | 0.06 | 0.63 | 0.41 | 0.28 |
 > 2 cm | 899 (38.3%) | 143 (43.1%) | 60 (45.8%) | 56 (42.4%) | 20 (46.5%) | 7 (27.0%) |  |  |  |  |  |
Histology b | |||||||||||
 IDC | 1825 (77.8%) | 295 (88.9%) | 122 (93.1%) | 114 (86.4%) | 38 (88.4%) | 21 (80.8%) | 1 × 10−6 | 5 × 10−6 | 0.02 | 0.14 | 0.82 |
 DCIS | 184 (7.8%) | 11 (3.3%) | 0 (0%) | 7 (5.3%) | 2 (4.7%) | 2 (7.7%) | 2.1 × 10−3 | 4.9 × 10−5 | 0.40 | 0.77 | 1 |
 Lobular | 45 (1.9%) | 6 (1.8%) | 1 (0.8%) | 3 (2.3%) | 1 (2.3%) | 1 (3.9%) | 1 | 0.51 | 0.74 | 0.57 | 0.40 |
 Mucinous | 45 (1.9%) | 3 (0.9%) | 0 (0%) | 2 (1.5%) | 1 (2.3%) | 0 (0%) | 0.27 | 0.17 | 1 | 0.57 | 1 |
 Medullary | 11 (0.5%) | 4 (1.2%) | 2 (1.5%) | 2 (1.5%) | 0 (0%) | 0 (0%) | 0.10 | 0.15 | 0.15 | 1 | 1 |
 Other c | 34 (1.5%) | 4 (1.2%) | 2 (1.5%) | 1 (0.8%) | 0 (0%) | 1 (3.9%) | 1 | 0.72 | 1 | 1 | 0.32 |
Grade b | |||||||||||
 I | 139 (5.9%) | 2 (0.6%) | 0 (0%) | 2 (1.5%) | 0 (0%) | 0 (0%) | 2 × 10−6 | 6.8 × 10−4 | 0.03 | 0.18 | 0.40 |
 II | 1004 (42.8%) | 129 (38.9%) | 26 (19.9%) | 67 (50.8%) | 26 (60.5%) | 10 (38.5%) | 0.19 | 8.4 × 10−8 | 0.09 | 0.03 | 0.70 |
 III | 587 (25.0%) | 134 (40.4%) | 85 (64.9%) | 35 (26.5%) | 8 (18.6%) | 6 (23.1%) | 1.5 × 10−8 | 1.5 × 10−20 | 0.68 | 0.38 | 1 |
ER status b | |||||||||||
 Positive | 1592 (67.8%) | 190 (57.2%) | 34 (26.0%) | 107 (81.1%) | 30 (69.8%) | 19 (73.1%) | 1 × 10−6 | 4.1 × 10−25 | 0.01 | 0.86 | 0.82 |
 Negative | 612 (26.1%) | 134 (40.4%) | 94 (71.8%) | 22 (16.7%) | 12 (27.9%) | 6 (23.1%) |  |  |  |  |  |
PR status b | |||||||||||
 Positive | 1571 (66.9%) | 192 (57.8%) | 35 (26.7%) | 107 (81.1%) | 32 (74.4%) | 18 (69.2%) | 2.3 × 10−5 | 2.6 × 10−23 | 2.3 × 10−3 | 0.61 | 1 |
 Negative | 631 (26.9%) | 131 (39.5%) | 93 (71.0%) | 21 (15.9%) | 10 (23.3%) | 7 (26.9%) |  |  |  |  |  |
AR status b | |||||||||||
 Positive | 710 (30.3%) | 69 (20. 8%) | 15 (11.5%) | 33 (25.0%) | 10 (23.3%) | 11 (42.3%) | 2.8 × 10−14 | 4.6 × 10−21 | 0.19 | 0.02 | 1 |
 Negative | 175 (7.5%) | 73 (22.0%) | 50 (38.2%) | 13 (9.9%) | 8 (18.6%) | 2 (7.7%) |  |  |  |  |  |
HER2 status b | |||||||||||
 Positive | 507 (21.6%) | 15 (4.5%) | 2 (1.5%) | 6 (4.6%) | 0 (0%) | 7 (26.9%) | 8.1 × 10−17 | 4.2 × 10−11 | 1.1 × 10−7 | 4.3 × 10−5 | 0.48 |
 Negative | 1317 (56.1%) | 277 (83.4%) | 120 (91.6%) | 103 (78.0%) | 37 (86.1%) | 17 (65.4%) | 2.8 × 10−23 | 3.7 × 10−18 | 4.5 × 10−7 | 6.3 × 10−5 | 0.43 |
 Uncertain | 342 (14.6%) | 27 (8.1%) | 3 (2.3%) | 18 (13.6%) | 4 (9.3%) | 2 (7.7%) | 1.2 × 10−3 | 6 × 10−6 | 0.90 | 0.51 | 0.57 |
 TNBC b | 303 (12.9%) | 109 (32.8%) | 82 (62.6%) | 15 (11.4%) | 8 (18.6%) | 4 (15.4%) | 9.5 × 10−18 | 6.8 × 10−37 | 0.69 | 0.25 | 0.77 |
Ki67 b | |||||||||||
 ≤ 30% | 1254 (53.4%) | 134 (40.4%) | 21 (16.0%) | 74 (56.1%) | 23 (53.5%) | 16 (61.5%) | 1.0 × 10−7 | 1.0 × 10−19 | 0.85 | 0.87 | 0.54 |
 > 30% | 852 (36.3%) | 175 (52.7%) | 98 (74.8%) | 52 (39.4%) | 17 (39.5%) | 8 (30.8%) |  |  |  |  |  |
EGFR b | |||||||||||
 Positive | 467 (19.9%) | 110 (33.1%) | 72 (55.0%) | 23 (17.4%) | 9 (20.9%) | 6 (23.1%) | 2.5 × 10−5 | 2.4 × 10−17 | 0.11 | 0.85 | 0.79 |
 Negative | 1026 (43.7%) | 132 (39.8%) | 24 (18.3%) | 75 (56.8%) | 22 (51.2%) | 11 (42.3%) |  |  |  |  |  |
CK5/6 b | |||||||||||
 Positive | 309 (13.2%) | 90 (27.1%) | 61 (46.6%) | 16 (12.1%) | 10 (23.3%) | 3 (11.5%) | 9.0 × 10−8 | 1.1 × 10−17 | 0.51 | 0.19 | 0.78 |
 Negative | 1382 (58.9%) | 181 (54.5%) | 46 (35.1%) | 89 (67.4%) | 26 (60.5%) | 20 (76.9%) |  |  |  |  |  |
P53 b | |||||||||||
 Gain-of-function | 605 (25.8%) | 100 (30.1%) | 46 (35.1%) | 39 (29.6%) | 10 (23.3%) | 5 (19.2%) | 0.10 | 0.02 | 0.36 | 0.86 | 0.65 |
 Loss-of-function | 227 (9.7%) | 49 (14.8%) | 33 (25.2%) | 6 (4.6%) | 4 (9.3%) | 6 (23.1%) | 6.7 × 10−3 | 9.5 × 10−7 | 0.05 | 1 | 0.04 |
 Wildtype | 629 (26.8%) | 103 (31.0%) | 21 (16.0%) | 55 (41. 7%) | 20 (46.5%) | 7 (26.9%) | 0.11 | 5.7 × 10−3 | 4.1 × 10−4 | 0.01 | 1 |
 Bilateral breast cancer b | 52 (2.2%) | 28 (8.4%) | 15 (11.5%) | 11 (8.3%) | 1 (2.3%) | 1 (3.9%) | 9.2 × 10−8 | 1.0 × 10−6 | 3.7 × 10−4 | 0.62 | 0.45 |
Lymph nodes status b | |||||||||||
 Positive | 892 (38.0%) | 153 (46.1%) | 43 (32.8%) | 75 (56.8%) | 21 (48.8%) | 14 (53.9%) | 0.01 | 0.13 | 4 × 10−6 | 0.13 | 0.05 |
 Negative | 1151 (49.0%) | 143 (43.1%) | 76 (58.0%) | 44 (33.3%) | 16 (37.2%) | 7 (26.9%) |  |  |  |  |  |