Comparison of risk-related clinical characteristics between patients with germline pathogenic variant and noncarriers
| Gene | All cases | Age at diagnosis | Early-onset breast cancer (≤ 40 years) | Premenopausal breast cancer | Bilateral breast cancer | Positive family history of breast cancer | Positive family history of any cancer | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Mean ± SD | P | No. of patients (%) | P | No. of patients (%) | P | No. of patients (%) | P | No. of patients (%) | P | No. of patients (%) | P | ||
| Non-carriers | 7,413 | 51.4 ± 11.6 | Ref | 1,276 (17.2) | Ref | 3,839 (51.8) | Ref | 184 (2.5) | Ref | 626 (8.4) | Ref | 2,323 (31.3) | Ref |
| TP53 | 30 | 41.8 ± 12.1 | 5.00 × 10−6 | 13 (43.3) | 1.61 × 10−4 | 26 (86.7) | 1.36 × 10−4 | 5 (16.7) | 8.51 × 10−4 | 4 (13.3) | 0.32 | 16 (53.3) | 9.60 × 10−3 |
| BRCA2 | 279 | 47.8 ± 10.8 | 2.95 × 10−7 | 75 (26.9) | 3.10 × 10−5 | 163 (58.4) | 0.03 | 30 (10.8) | 1.64 × 10−16 | 85 (30.5) | 1.13 × 10−35 | 143 (51.3) | 2.60 × 10−12 |
| BRCA1 | 141 | 44.7 ± 9.3 | 1.01 × 10−11 | 50 (35.5) | 1.68 × 10−8 | 108 (76.6) | 5.15 × 10−9 | 10 (7.1) | 1.58 × 10−3 | 55 (39.0) | 3.84 × 10−36 | 89 (63.1) | 1.06 × 10−15 |
| PALB2 | 52 | 47.6 ± 11.4 | 0.02 | 13 (25.0) | 0.14 | 32 (61.5) | 0.16 | 1 (1.9) | 1.00 | 9 (17.3) | 0.04 | 31 (59.6) | 1.20 × 10−5 |
| BARD1 | 14 | 50.4 ± 9.3 | 0.73 | 2 (14.3) | 1.00 | 6 (42.9) | 0.50 | 0 (0.0) | 1.00 | 2 (14.3) | 0.76 | 9 (64.3) | 0.02 |
| CHEK2 | 24 | 50.3 ± 8.4 | 0.64 | 3 (12.5) | 0.73 | 16 (66.7) | 0.15 | 1 (4.2) | 0.45 | 4 (16.7) | 0.28 | 13 (54.2) | 0.03 |
| RAD51D | 28 | 46.3 ± 11.7 | 0.02 | 10 (35.7) | 0.02 | 19 (67.9) | 0.09 | 0 (0.0) | 1.00 | 1 (3.6) | 0.56 | 12 (42.9) | 0.19 |
| ATM | 29 | 49.8 ± 13.6 | 0.45 | 8 (27.6) | 0.14 | 18 (62.1) | 0.27 | 2 (6.9) | 0.16 | 6 (20.7) | 0.04 | 18 (62.1) | 3.75 × 10−4 |
| PTEN | 5 | 47.6 ± 7.0 | 0.46 | 0 (0.0) | 0.60 | 3 (60.0) | 1.00 | 2 (40.0) | 0.01 | 1 (20.0) | 0.36 | 1 (20.0) | 1.00 |
| CDH1 | 1 | 46.0 | 0.64 | 0 (0.0) | 1.00 | 1 (100.0) | 1.00 | 0 (0.0) | 1.00 | 0 (0.0) | 1.00 | 0 (0.0) | 1.00 |
| STK11 | 1 | 46.0 | 0.64 | 0 (0.0) | 1.00 | 1 (100.0) | 1.00 | 0 (0.0) | 1.00 | 0 (0.0) | 1.00 | 0 (0.0) | 1.00 |
| NBN | 6 | 43.8 ± 4.3 | 0.11 | 1 (16.7) | 1.00 | 6 (100.0) | 0.03 | 0 (0.0) | 1.00 | 0 (0.0) | 1.00 | 2 (33.3) | 1.00 |
| RAD50 | 19 | 48.6 ± 14.2 | 0.29 | 6 (31.6) | 0.18 | 10 (52.6) | 1.00 | 0 (0.0) | 1.00 | 2 (10.5) | 1.00 | 4 (21.1) | 0.33 |
| BRIP1 | 9 | 45.9 ± 9.3 | 0.15 | 4 (44.4) | 0.09 | 7 (77.8) | 0.18 | 1 (11.1) | 0.20 | 1 (11.1) | 0.55 | 3 (33.3) | 1.00 |
| RAD51C | 2 | 54.0 ± 8.5 | 0.75 | 0 (0.0) | 1.00 | 0 (0.0) | 0.23 | 0 (0.0) | 1.00 | 0 (0.0) | 1.00 | 1 (50.0) | 0.53 |
| In Total | 8,053# | 51.1 ± 11.6 | – | 1,461 (18.1) | – | 4,263 (52.9) | – | 236 (2.9) | – | 796 (9.9) | – | 2,665 (33.1) | – |
#Fourteen patients carrying pathogenic variants in 2 different genes were excluded from clinical characteristics analysis. SD, standard deviation; BBC, bilateral breast cancer.