Table 3 Clinicopathologic and treatment characteristics in BRCA1/2 and PALB2 patients with breast cancer based on pre-diagnostic awareness of germline pathogenic variant (n = 309)
Characteristic | Awareness of GPV prior to BC diagnosis (n = 72) | Genetic testing after BC diagnosis (n = 237) | P-value |
|---|---|---|---|
Age at First Breast Cancer Diagnosis – n, (%) |  |  | 0.27 |
 <30 years | 5 (6.9) | 24 (10.1) |  |
 30–40 years | 22 (30.6) | 69 (29.1) |  |
 40–50 years | 16 (22.2) | 75 (31.7) |  |
 50–60 years | 17 (23.6) | 46 (19.4) |  |
 60 + years | 12 (16.7) | 23 (9.7) |  |
Family History in a 1st or 2nd degree relative – n, (%) | |||
 Breast Cancer | 56 (77.8) | 159 (67.1) | 0.08 |
 Ovarian Cancer | 27 (37.5) | 56 (23.6) | 0.02 |
 Pancreatic Cancer | 5 (6.9) | 32 (13.5) | 0.13 |
 Male Breast Cancer | 7 (7.9) | 8 (3.8) | 0.17 |
Germline Pathogenic Variant – n, (%) |  |  | 0.18 |
 BRCA1 | 44 (61.1) | 116 (49.0) |  |
 BRCA2 | 25 (34.7) | 105 (44.3) |  |
 PALB2 | 3 (4.2) | 16 (6.8) |  |
Screening MRI – n, (%) |  |  | < 0.001 |
 Yes | 57 (79.2) | 3 (1.3) |  |
 No | 15 (20.8) | 234 (98.7) |  |
Method of Breast Cancer Detection – n, (%) |  |  | < 0.001 |
 Clinical abnormality/palpable mass | 8 (11.1) | 166 (70.0) |  |
 Mammographically-detected abnormality | 16 (22.2) | 69 (29.1) |  |
 MRI-detected abnormality | 44 (61.1) | 2 (0.84) |  |
 Occult breast cancer on risk-reducing mastectomy | 4 (5.6) | - |  |
Histology – n, (%) |  |  | 0.53 |
 Ductal carcinoma in situ (DCIS) | 10 (13.9) | 21 (8.9) |  |
 Invasive ductal carcinoma | 53 (73.6) | 175 (73.8) |  |
 Invasive lobular carcinoma | 2 (2.8) | 10 (4.2) |  |
 Other/unknown | 7 (9.7) | 31 (13.1) |  |
Histologic Grade* – n, (%) |  |  | 0.40 |
 Grade I | 3 (4.8) | 4 (1.9) |  |
 Grade II | 15 (24.2) | 58 (26.9) |  |
 Grade III | 44 (71.0) | 154 (71.3) |  |
Tumor Size* – n, (%) |  |  | 0.002 |
 T1a/T1b | 17 (27.4) | 19 (8.8) |  |
 T1c | 14 (22.6) | 52 (24.1) |  |
 T2 | 15 (24.2) | 89 (41.2) |  |
 T3/T4 | 4 (6.5) | 19 (8.8) |  |
 Unknown tumor size | 12 (19.4) | 37 (17.1) |  |
Nodal Status* – n, (%) |  |  | 0.02 |
 N0 | 54 (87.1) | 156 (72.2) |  |
 N1/N2 | 8 (12.9) | 60 (27.8) |  |
Biologic Subtype* – n, (%) |  |  | 0.37 |
 ER + HER2- | 29 (46.8) | 105 (48.6) |  |
 TNBC | 32 (51.6) | 99 (45.8) |  |
 HER2+ | 1 (1.6) | 12 (5.6) |  |
Treatment Approach – n, (%) |  |  | 0.17 |
 Primary/upfront surgery | 51 (70.8) | 147 (62.0) |  |
 Neoadjuvant systemic therapy | 21 (29.2) | 90 (38.0) |  |
Index Breast Surgery – n, (%) |  |  | < 0.001 |
 Breast conserving surgery | 21 (29.6) | 126 (54.1) |  |
 Unilateral mastectomy | 10 (14.1) | 38 (16.3) |  |
 Bilateral mastectomy | 40 (56.3) | 69 (29.6) |  |
Adjuvant Radiation – n, (%) |  |  | < 0.001 |
 Yes | 25 (34.7) | 149 (62.9) |  |
 No | 47 (65.3) | 88 (37.1) |  |
Adjuvant Endocrine therapy – n, (%) |  |  | 0.02 |
 Yes | 16 (22.2) | 87 (36.7) |  |
 No | 56 (77.8) | 150 (63.3) |  |
Any Chemotherapy Receipt†– n, (%) |  |  |  0.02 |
 Yes | 43 (59.7) | 176 (74.3) |  |
 No | 29 (40.3) | 61 (25.7) |  |