TABLE 1.
Clinicopathologic Data of 230 High Risk Breast Cancer Patients.
| Variable | Multigene patient cohort (N = 230) n (%) | Germline mutation frequency (N = corresponding patients) n (%) | |||
|---|---|---|---|---|---|
| Germline mutation carriers | gBRCA1/2 carriers | Non-BRCA germline mutation carriers a | Non-BRCA HRR germline mutation carriers | ||
| Sex | |||||
| Female | 228 (99.1) | 68 (29.8) | 44 (19.3) | 28 (12.3) | 22 (9.6) |
| Male | 2 (0.9) | 0 (0.0) | 0 (0.0) | 0 (0.0) | 0 (0.0) |
| Diagnosis age | |||||
| ≤3 years | 44 (19.1) | 19 (43.2) | 14 (31.8) | 7 (15.9) | 5 (11.4) |
| 31–40 years | 126 (54.8) | 30 (23.8) | 19 (15.1) | 12 (9.5) | 10 (7.9) |
| 41–50 years | 42 (18.3) | 15 (35.7) | 8 (19.0) | 8 (19.0) | 6 (14.3) |
| 51–60 years | 11 (4.8) | 2 (18.2) | 1 (9.1) | 1 (9.1) | 1 (9.1) |
| >60 years | 7 (3.0) | 2 (28.6) | 2 (28.6) | 0 (0.0) | 0 (0.0) |
| Family history (first or second degree) | |||||
| Breast cancer | 96 (41.7) | 41 (42.7) | 26 (27.1) | 17 (17.7) | 14 (14.6) |
| BRCA related cancer (other than BC) | 7 (3.0) | 3 (42.9) | 3 (42.9) | 1 (14.3) | 1 (14.3) |
| Non-BRCA related cancer | 21 (9.1) | 2 (9.5) | 2 (9.5) | 1 (4.8) | 1 (4.8) |
| Negative | 83 (36.1) | 19 (22.9) | 11 (13.3) | 8 (9.6) | 5 (6.0) |
| Unknown | 23 (10.0) | 3 (13.0) | 2 (8.7) | 1 (4.3) | 1 (4.3) |
| Site of breast tumors | |||||
| Unilateral BC | 217 (94.3) | 63 (29.0) | 39 (18.0) | 27 (12.4) | 21 (9.7) |
| Bilateral BC | 13 (5.7) | 5 (38.5) | 5 (38.5) | 1 (7.7) | 1 (7.7) |
| Histology of breast tumors | |||||
| In situ carcinoma | 19 (8.3) | 4 (21.1) | 2 (10.5) | 2 (10.5) | 2 (10.5) |
| Invasive carcinoma | 209 (90.9) | 64 (30.6) | 42 (20.1) | 26 (12.4) | 20 (9.6) |
| Unknown | 2 (0.8) | 0 (0.0) | 0 (0.0) | 0 (0.0) | 0 (0.0) |
| Molecular subtypes of breast tumors | |||||
| Luminal A | 8 (3.5) | 2 (25.0) | 0 (0.0) | 2 (25.0) | 2 (25.0) |
| Luminal B (HER2-) | 17 (7.4) | 6 (35.3) | 4 (23.5) | 2 (11.8) | 1 (5.9) |
| Luminal B (HER2+) | 86 (37.4) | 26 (30.2) | 15 (17.4) | 12 (14.0) | 10 (11.6) |
| HER2+ | 33 (14.3) | 9 (27.3) | 6 (18.2) | 4 (12.1) | 4 (12.1) |
| TNBC | 85 (37.0) | 25 (29.4) | 19 (22.4) | 8 (9.4) | 5 (5.9) |
| Unknown | 1 (0.4) | 0 (0.0) | 0 (0.0) | 0 (0.0) | 0 (0.0) |
| Tumor size | |||||
| ≤2 cm | 101 (43.9) | 29 (28.7) | 15 (14.9) | 15 (14.9) | 13 (12.9) |
| >2 cm | 90 (39.1) | 28 (31.1) | 21 (23.3) | 9 (10.0) | 5 (5.6) |
| Unknown | 39 (17.0) | 11 (28.2) | 8 (20.5) | 4 (10.3) | 4 (10.3) |
| Lymph nodes status | |||||
| Negative | 156 (67.8) | 50 (32.1) | 33 (21.2) | 20 (12.8) | 17 (10.9) |
| Positive | 57 (24.8) | 14 (24.6) | 7 (12.3) | 8 (14.0) | 5 (8.8) |
| Unknown | 17 (7.4) | 4 (23.5) | 4 (23.5) | 0 (0.0) | 0 (0.0) |
| Metastasis | |||||
| Negative | 194 (84.3) | 63 (32.5) | 40 (20.6) | 27 (13.9) | 21 (10.8) |
| Positive | 36 (15.7) | 5 (13.9) | 4 (11.1) | 1 (2.8) | 1 (2.8) |
a
4 patients carried both BRCA, and non-BRCA, gene germline mutations.
AbbreviationsgBRCA, germline breast cancer susceptibility gene.