Table 1.
Tumor BRCA1 and BRCA2 alterations distribution according to the clinicopathological parameters of the 221 cases successfully analyzed.
| Clinicopathological Features | BRCA1 | BRCA2 | ||||
|---|---|---|---|---|---|---|
| Pathogenic/Likely Pathogenic Mutations | VUS | WT | Pathogenic/Likely Pathogenic Mutations | VUS | WT | |
| Tumor Site | ||||||
| Primary tumors (n = 200) | 46 (23.0%) | 13 (6.5%) | 141 (70.5%) | 14 (7.0%) | 7 (3.5%) | 179 (89.5%) |
| Metastases/Recurrences (n = 21) |
1 (4.8%) | 3 (14.3%) | 17 (81.0%) | 1 (4.8%) | 2 (9.5%) | 18 (85.7%) |
| Histologycal Subtype | ||||||
| High-grade serous carcinoma (n = 194) | 47 (24.2%) | 16 (8.2%) | 131 (67.5%) | 14 (7.2%) | 7 (3.6%) | 173 (89.2%) |
| Non-serous carcinoma/subtype not defined (n = 27) | 0 | 0 | 27 (100%) | 1 (3.7%) | 2 (7.4%) | 24 (88.9%) |
| Pathological Staging | ||||||
| T1 (n = 15) | 2 (13.3%) | 0 | 13 (86.7%) | 2 (13.3%) | 2 (13.3%) | 11 (73.3%) |
| T2 (n = 29) | 6 (20.7%) | 1 (3.4%) | 22 (75.9%) | 3 (10.3%) | 0 | 26 (89.7%) |
| T3 (n = 116) | 25 (21.6%) | 8 (6.9%) | 83 (71.6%) | 4 (3.4%) | 3 (2.6%) | 109 (94.0%) |
| NA (n = 61) | 14 (23.0%) | 7 (11.5%) | 40 (65.6%) | 6 (9.8%) | 4 (6.6%) | 51 (83.6%) |
| N0 (n = 39) | 5 (12.8%) | 0 | 34 (87.2%) | 3 (7.7%) | 4 (10.3%) | 32 (82.1%) |
| N1 (n = 65) | 18 (2.7%) | 6 (9.2%) | 41 (63.1%) | 2 (3.1%) | 1 (1.5%) | 62 (95.4%) |
| NX (n = 56) | 10 (17.9%) | 3 (5.4%) | 43 (76.8%) | 4 (7.1%) | 0 | 52 (92.9%) |
| NA (n = 61) | 14 (23.0%) | 7 (11.5%) | 40 (65.6%) | 6 (9.8%) | 4 (6.6%) | 51 (83.6%) |
| Family History | ||||||
| Positive (n = 93) | 24 (25.8%) | 8 (8.6%) | 61 (65.6%) | 7 (7.5%) | 6 (6.5%) | 80 (86.0%) |
| Negative (n = 101) | 16 (15.8%) | 7 (6.9%) | 78 (77.2%) | 7 (6.9%) | 2 (2.0%) | 92 (91.1%) |
| NA (n = 27) | 7 (25.9%) | 1 (3.7%) | 19 (70.4%) | 1 (3.7%) | 1 (3.7%) | 25 (92.6%) |
| Time of Test Request | ||||||
| At pathological diagnosis (n = 123) |
28 (22.8%) | 8 (6.5%) | 87 (70.7%) | 8 (6.5%) | 5 (4.1%) | 110 (89.4%) |
| At least 6 months after pathological diagnosis without relapse (n = 35) | 9 (25.7%) | 2 (5.7%) | 24 (68.6%) | 3 (8.6%) | 3 (8.6%) | 29 (82.9%) |
| At relapse (n = 37) | 4 (10.8%) | 5 (13.5%) | 28 (75.7%) | 2 (5.4%) | 1 (2.7%) | 34 (91.9%) |
| NA (n = 26) | 6 (23.1%) | 1 (3.8%) | 19 (73.1%) | 2 (7.7%) | 0 | 24 (92.3%) |
The bold terms referred to the clinicopathological feature investigated.