Table 3.
Characteristics of patients with deleterious BRCA1/2 mutations
| Case | Gene | Mutation | Pre-test BRCAPRO score |
Cancer diagnosis |
Age at testing |
Number of FDR/SDR with BC <50 and/or OC |
Other relevant information |
|---|---|---|---|---|---|---|---|
| 3 | BRCA2 | 3036del4 | 70.4 | BC@38 | 38 | 3 | Additional VUS identified in BRCA2 gene |
| 18 | BRCA1 | C64G (309T > G) | 95.9 | TNBC@35 | 36 | 2 | |
| 29 | BRCA1 | 2418delA | 12.1 | BC@56 | 56 | 2 | |
| 40 | BRCA1 | IVS13 + 1G > A | 69 | TNBC@50 | 50 | 1 | |
| 43 | BRCA1 | C64G (309T > G) | N/A | TNBC@36 | 43 | 2 | Sister of patient 18 |
| 45 | BRCA2 | S2670L (8237C > T) | 4.8 | BC@24 | 24 | 0 | Classified as VUS in 2006, reclassified in 2009 |
| 62 | BRCA2 | 5804del4 | 32 | TNBC@41 | 43 | 1 | First BC@33 |
| 64 | BRCA2 | 3237delC | 0.4 | BC@46 | 66 | 1 | Uterine sarcoma @64 |
| 65 | BRCA2 | 3237delC | N/A | Not affected | 40 | 1 | Daughter of patient 64 |
| 99 | BRCA1 | IVS23 + 1G > A | 0.9 | BC@39 | 41 | 0 | |
| 115 | BRCA1 | IVS16 + 6T > C | 8.4 | TNBC@39 | 39 | 0 | Bilateral BC |
| 128 | BRCA1 | IVS16 + 6T > C | 75.2 | BC@51 | 52 | 2 | |
| 135 | BRCA1 | 943ins10 | 15.1 | OC@46 | 48 | 1 | |
| 142 | BRCA2 | Y600X (2028T > A) | 84.2 | BC@55 | 56 | 2 | |
| 155 | BRCA2 | 5804del4 | 67.1 | TNBC@39 | 39 | 2 | |
| 160 | BRCA1 | Q563X | 26.3 | Not affected | 50 | 1 | |
| 213 | BRCA1 | W1508X (4643G > A) | 4.5 | BC@26 | 27 | 0 | |
| 216 | BRCA1 | IVS13 + 1G > A | 100 | OC@49 | 52 | 3 | BC@31 |
| 221 | BRCA2 | 1433delG | N/A | Not affected | 37 | 3 | Relative of known carrier |
| 223 | BRCA2 | 5804del4 | N/A | BC@38 | 47 | 1 | Relative of known carrier |
BC breast cancer, OC ovarian cancer, N/A not applicable, FDR first-degree relatives, SDR second-degree relatives, TNBC triple-negative breast cancer