Table 1.
Selected studies evaluating the association between clinic–pathological characteristics and the BRCA1/2 status in MBC.
| BRCA1 Pathogenic Variant | BRCA2 Pathogenic Variant | BRCA Wild-Type | |||||||
|---|---|---|---|---|---|---|---|---|---|
| Author, year (total participants) | Ottini 2012 (378) |
Deb 2012 (60) |
Gargiulo 2016 (47) |
Ottini 2012 (378) | Deb 2012 (60) |
Gargiulo 2016 (47) |
Ottini 2012 (378) | Deb 2012 (60) | Gargiulo 2016 (47) |
| Number of patients/Total evaluated (%) | 4/378 (1.1) | 3/60 (5) | 1/17 (5.9) | 46/378 (12.2) | 25/60 (41.6) | 5 (29.4) | 328/378 (86.7) | 32/60 (53.3) | 10/17 (58.8) |
| Mean/Median age (years) | 62.0/NI | NI/65.6 | NI/40.0 | 58.9/NI | NI/61.0 | NI/72 | NI/NI | NI/63.2 | NI/61.0 |
| FH of breast/ovarian cancer (%) | 3 (75) | 3 (100) | 1 (100) | 31 (67.4) | 25 (100) | 2 (40) | 105 (32) | 32 (100) | 5 (50) |
| Personal history of other cancers (%) | 0 | 0 (0) | 1 (100) | 12 (26.1) 1 | 5 (8.3) 2 | 2 (40) | 44 (13.4) | 5 (8.3) | 2 (20) |
| Contralateral BC (%) | 0 | 0 (0) | NI | 7 (15.2) | 1 (1.6) | NI | 9 (2.7) | 1 (1.6) | NI |
| Histology (%) | (n = 4) | (n = 3) | (n = 1) | (n = 34) | (n = 25) | (n = 5) | (n = 254) | (n = 34) | (n = 10) |
| Invasive ductal carcinoma | 4 (100) | 2 (66.6) | 1 (100) | 30 (88.3) | 24 (96) | 5 (100) | 220 (86.6) | 30 (88.2) | 10 (100) |
| In situ ductal carcinoma | 0 (0) | 0 (0) | 0 (0) | 2 (5.9) | 0 (0) | 0 (0) | 20 (7.9) | 0 (0) | 0 (0) |
| Invasive medullary carcinoma | 0 (0) | 0 (0) | 0 (0) | 1 (2.9) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) |
| Invasive lobular carcinoma | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 4 (1.6) | 2 (6.3) | 0 (0) |
| Others | 0 (0) | 1 (33.3) | 0 (0) | 1 (2.9) | 1 (4) | 0 (0) | 10 (3.9) | 2 (6.3) | 0 (0) |
| Molecular characteristics (%) | (n = 4) | (n = 3) | (n = 1) | (n = 19) | (n = 25) | (n = 5) | (n = 166) | (n = 30) | (n = 9) |
| HR-positive | 3 (75) | 3 (100) | 1 (100) | 16 (84.2) | 23 (92.0) | 5 (100) | 159 (95.8) | 26 (86.7) | 9 (100) |
| HER2-positive | 0 (0) | 0 (0) | 0 (0) | 3 (15.8) | 2 (8.0) | 1 (20) | 1 (0.6) | 3 (10.0) | 1 (11) |
| Triple-negative | 1 (25) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 6 (3.6) | 1 (3.3) | 0 (0) |
| Histological grade (%) | (n = 3) | (n = 3) | NI | (n = 31) | (n = 25) | NI | (n = 227) | (n = 32) | NI |
| 1 to 2 | 1 (33.3) | 0 (0) | 14 (45.2) | 13 (52) | 169 (74.4) | 20 (62.5) | |||
| 3 | 2 (66.7) | 3 (100) | 17 (54.8) | 12 (48) | 58 (25.6) | 12 (37.5) | |||
| Staging (%) | (n = 3) | NI | (n = 1) | (n = 24) | NI | (n = 4) | (n = 187) | NI | (n = 10) |
| I–II | 2 (66.7) | 1 (100) | 15 (62.5) | 2 (40) | 151 (80.7) | 9 (90) | |||
| III–IV | 1 (33.3) | 0 (0) | 9 (37.5) | 2 (40) | 36 (19.3) | 1 (10) | |||
| Node status, positive (%) | (n = 3) | (n = 3) | (n = 1) | (n = 30) | (n = 20) | (n = 5) | (n = 209) | (n = 23) | (n = 10) |
| 2 (66.7) | 2 (66.7) | 1 (100) | 17 (56.7) | 9 (45) | 2 (40) | 80 (38.3) | 9 (39.1) | 5 (50) | |
NI: not informed, FH: family history, BC: breast cancer, HR: hormonal receptor, and HER2: human epidermal growth factor receptor 2. 1,2: mainly prostate cancer (58% and 50%, respectively).