Table 3.
Mutational profiles of BRCA1/2 in male and female patients with a diagnosis of tumor
| Variables | BRCAm identified in males (n = 438, TCGA & SYSUCC) | BRCAm identified in females (n = 592, TCGA) | P* |
|---|---|---|---|
| Oncogenicity of BRCA1/2 mutation | |||
| BRCA1 | 127 (29.0) | 193 (32.6) | 0.243 |
| deleterious (or likely) | 29 (21.8) | 67 (34.7) | 0.032 |
| undetermined significant | 98 (77.2) | 126 (65.3) | |
| BRCA2 | 311 (32.6) | 399 (67.4) | |
| deleterious (or likely) | 89 (28.6) | 103 (25.8) | 0.454 |
| undetermined significant | 222 (71.4) | 296 (74.2) | |
|
Individual BRCA1/2 mutation count (range, 1–12) | |||
| 1 | 286 (82.7) | 278 (79.7) | 0.208 |
| 2 | 36 (10.4) | 32 (9.2) | |
| ≥ 3 | 24 (6.9) | 39 (11.2) | |
| BRCA1/2 mutational types | |||
| BRCA1 | |||
| frameshift | 7 (5.5) | 20 (10.4) | 0.013 |
| missense | 89 (70.1) | 144 (74.6) | |
| nonsense | 15 (11.8) | 23 (11.9) | |
| in-frame InDel | 2 (1.6) | 0(0.0) | |
| fusion/amplification | 5 (3.9) | 3 (1.6) | |
| othersa | 9 (7.1) | 3 (1.6) | |
| BRCA2 | |||
| frameshift | 47 (15.1) | 38 (9.5) | 0.110 |
| missense | 216 (69.5) | 304 (76.2) | |
| nonsense | 33 (10.6) | 44 (11.0) | |
| in-frame InDel | 2 (0.6) | 3 (0.8) | |
| fusion/amplification | 2 (0.6) | 4 (1.0) | |
| others | 11 (3.5) | 6 (1.5) | |
*χ2 test comparing the characteristics of BRCA1/2 mutations between groups
aIncluding BRCA1/2 intronic mutations in splice site (or region) and translation start site