Clinical and demographic characteristics of carriers with protein-truncating variants
| Variable | PALB2 carriers (n=57) | BRCA1 carriers (n=99) | BRCA2 carriers (n=161) | Non-carriers (n=7523) | P value* | P value† | P value‡ |
| Age at diagnosis (mean±SD) | 51.3±10.7 | 44.1±10.8 | 47.3±10.5 | 52.5±10.7 | 0.414 | <0.001 | <0.001 |
| Age distribution (years) | 0.612 | <0.001 | <0.001 | ||||
| <30 | 2 (3.5) | 7 (7.1) | 4 (2.5) | 101 (1.4) | |||
| 30–39 | 6 (10.5) | 30 (30.0) | 35 (21.9) | 672 (9.0) | |||
| 40–49 | 16 (28.1) | 34 (34.7) | 59 (36.9) | 2260 (30.2) | |||
| 50–59 | 18 (31.6) | 17 (17.3) | 40 (25.0) | 2538 (33.9) | |||
| >60 | 15 (26.3) | 10 (10.2) | 22 (13.8) | 1907 (25.5) | |||
| Ethnicity | 0.728 | 0.003 | 0.021 | ||||
| Chinese | 41 (73.2) | 59 (59.6) | 104 (64.6) | 5696 (75.8) | |||
| Malay | 11 (19.6) | 25 (25.3) | 36 (22.4) | 1088 (14.5) | |||
| Indian | 4 (7.1) | 14 (14.1) | 20 (12.4) | 651 (8.7) | |||
| Other | 0 (0.0) | 1 (1.0) | 1 (0.6) | 79 (1.1) | |||
| Family history of breast cancer, first deg | 0.087 | <0.001 | <0.001 | ||||
| Yes | 13 (22.8) | 38 (38.8) | 47 (29.4) | 1071 (14.4) | |||
| No | 44 (77.2) | 60 (61.2) | 113 (70.6) | 6344 (85.6) | |||
| Family history of ovarian cancer, first deg | 0.551 | <0.001 | 0.029 | ||||
| Yes | 1 (2.1) | 13 (14.9) | 7 (4.8) | 108 (1.6) | |||
| No | 47 (97.9) | 74 (85.1) | 138 (95.2) | 6463 (98.4) | |||
| Bilaterality | 0.500 | 0.001 | 0.008 | ||||
| Yes | 3 (5.4) | 12 (12.2) | 14 (8.8) | 306 (4.1) | |||
| No | 53 (94.6) | 86 (87.8) | 145 (91.2) | 7169 (95.9) | |||
| Tumour stage | 0.002 | 0.228 | 0.005 | ||||
| Stage 0 | 0 (0.0) | 5 (6.7) | 6 (4.7) | 698 (11.2) | |||
| Stage I | 6 (15.0) | 19 (25.3) | 30 (23.6) | 1965 (31.6) | |||
| Stage II | 22 (55.0) | 30 (40.0) | 54 (42.5) | 2338 (37.6) | |||
| Stage III | 11 (27.5) | 18 (24.0) | 27 (21.3) | 966 (15.5) | |||
| Stage IV | 1 (2.5) | 3 (4.0) | 10 (7.9) | 248 (4.0) | |||
| Tumour grade | 0.045 | <0.001 | <0.001 | ||||
| Low | 2 (4.2) | 2 (2.6) | 3 (2.2) | 950 (14.8) | |||
| Intermediate | 20 (41.7) | 19 (24.4) | 65 (47.8) | 2847 (44.3) | |||
| High | 26 (54.2) | 57 (73.1) | 68 (50.0) | 2623 (40.9) | |||
| ER status | 0.278 | <0.001 | 0.412 | ||||
| Positive | 34 (65.4) | 21 (24.1) | 104 (72.7) | 4833 (72.3) | |||
| Negative | 18 (34.6) | 66 (75.9) | 39 (27.3) | 1854 (27.7) | |||
| PR status | 0.055 | <0.001 | 0.328 | ||||
| Positive | 25 (50.0) | 19 (22.6) | 84 (60.9) | 4117 (63.7) | |||
| Negative | 25 (50.0) | 65 (77.4) | 54 (39.1) | 2350 (36.3) | |||
| HER2 status | 0.630 | 0.001 | <0.001 | ||||
| Positive | 12 (26.1) | 11 (13.9) | 19 (16.2) | 1695 (30.7) | |||
| Negative | 34 (73.9) | 68 (86.1) | 98 (83.8) | 3820 (69.3) | |||
| Triple negative breast cancer | 0.266 | <0.001 | 0.029 | ||||
| Yes | 8 (17.8) | 49 (64.5) | 24 (20.9) | 677 (12.6) | |||
| No | 37 (82.2) | 27 (35.5) | 91 (79.1) | 4688 (87.4) | |||
| Study | 0.006 | 0.014 | 0.023 | ||||
| MyBrCa | 35 (61.4) | 55 (55.6) | 84 (52.2) | 3249 (43.2) | |||
| SGBCC | 22 (38.6) | 44 (44.4) | 77 (47.8) | 4274 (56.8) | |||
*PALB2 mutation carriers versus non-carriers.
†BRCA1 mutation carriers versus non-carriers.
‡BRCA2 mutation carriers versus non-carriers.
MyBrCa, Malaysian Breast Cancer Genetic Study; PALB2, partner and localiser of BRCA2; SGBCC, Singapore Breast Cancer Cohort Study.