Table 1.
Demographic characteristics of breast cancer patients tested for BRCA1/2 genes
| Characteristic | No. (%) |
|---|---|
| Female | 328 |
| Current age, median (range, yr) | 44 (25-76) |
| Age at cancer diagnosis, median (range, yr) | 43 (25-73) |
| Classification of cancer type | |
| Invasive ductal carcinoma | 236 (72.0) |
| Ductal carcinoma in situ | 36 (11.0) |
| Invasive lobular carcinoma | 18 (5.5) |
| Lobular carcinoma in situ | 4 (1.2) |
| Others | 34 (10.4) |
| Stage of breast cancer | |
| Stage 0 | 40 (12.2) |
| Stage I | 124 (37.8) |
| Stage II | 102 (31.1) |
| Stage III | 47 (14.3) |
| Stage IV | 11 (3.4) |
| Unknown | 4 (1.2) |
| Family history | |
| Breast cancer | 216 (65.9) |
| Ovarian cancer | 25 (7.6) |
| Breast and ovarian cancer | 11 (3.4) |
| Without family history | 76 (23.2) |
| Pathogenic mutation carrier | |
| BRCA1 pathogenic variant | 20 (6.1) |
| BRCA2 pathogenic variant | 27 (8.2) |
| Large genomic rearrangement | |
| MLPA tested patients | 196 (59.7) |
| BRCA1 rearrangement carrier | 3 (0.9) |
| BRCA2 rearrangement carrier | 0 |
| Unclassified variants | |
| Patients with BRCA1 unclassified variant | 127 (38.7) |
| Patients with BRCA2 unclassified variant | 113 (34.5) |
Control (n=421): current age, 45 (27-71) years. MLPA, multiplex ligation-dependent probe amplification assay.