Table 2.
Tumor characteristics in known vs latent BRCA1/2 mutation carriers.
| Known carriers N = 96 |
Latent carriers N = 202 |
|||||
|---|---|---|---|---|---|---|
| BRCA1 | BRCA2 | P-value | BRCA1 | BRCA2 | P-value | |
|
Number of patients (%) |
73 (76)a |
23 (24) |
117 (58) |
85 (42) |
||
| Stage at diagnosis | ||||||
| DCIS, No. (%) | 14/73 (19.2)a | 5/23 (21.7) | NS | 3/117 (2.6) | 7/85 (8.2) | NS |
| T1N0, No. (%) | 41/73 (56.2) | 13/23 (56.5) | NS | 34/117 (29) | 23/85 (27) | NS |
| T1aN0 | 10/41 (24) | 1/13 (7.7) | NS | 1/34 (2.9) | 1/23 (4.3) | NS |
| T1bN0 | 16/41 (39) | 6/13 (46.15) | NS | 3/34 (8.8) | 2/23 (8.7) | NS |
| T1cN0 | 15/41 (37) | 6/13 (46.15) | NS | 21/34 (61.8) | 15/23 (65) | NS |
| T1(unknown)N0 | 0 | 0 | 9/34 (26.5) | 5/23 (22) | NS | |
| T2-3N0, No. (%) | 11/73 (15) | 1/23 (4.3) | NS | 19/117 (16.3) | 13/117 (11) | |
|
Node-positive disease, No. (%) |
7/73 (9.6) |
4/23 (17.4) |
NS |
60/117 (51.3) |
38/85 (44.7) |
NS |
| Bilateral disease, No. (%) | 4/73 (5.5)c | 0 | 3/117 (2.6) | 2/85 (2.4)d | NS | |
| Metastatic at presentation, No. (%) |
0 |
0 |
0 |
4 |
NS |
|
| Invasive disease casesb | 60c | 18 | 119d | 77 | ||
| Triple-negative, No. (%) | 42/60 (70) | 3/18 (17) | 0.0002 | 84/119 (70.6) | 19/77 (25) | 0.0001 |
| ER-positive Her2-negative, No. (%) | 14/60 (23) | 14/18 (78) | 0.0001 | 27/119 (22.7) | 48/77 (62) | 0.0001 |
| Her2-positive, No. (%) | 4/60 (7) | 1/18 (5) | NS | 8/119 (6.7) | 10/77 (13) | NS |
Abbreviations: DCIS, ductal carcinoma in situ; NS, non-significant.
Including 2 carriers of both BRCA1 and BRCA2 mutations.
Excluding DCIS.
Four of 59 patients with invasive carcinomas had bilateral disease - 3 of them with both triple-negative tumors (calculated as single case) and 1 had triple-negative and ER-positive tumors (calculated as an additional case).
Five of 115 patients with invasive carcinomas had bilateral disease – 1 of them with both triple-negative tumors (calculated as single case), 3 of them with triple-negative and Her2-positive tumors and 1 had triple-negative and ER-positive tumors (each of these patients calculated as two cases). One additional patient had bilateral DCIS.