Table 1 Demographic and clinical differences between BRCA1/2 and PALB2 patients with breast cancer (n = 309)
Characteristic | BRCA1 (n = 160) | BRCA2 (n = 130) | PALB2 (n = 19) | P-value | Total (n = 309) |
|---|---|---|---|---|---|
Age at First Breast Cancer Diagnosis – n, (%) |  |  |  | 0.003 |  |
 <30 years | 22 (13.8) | 6 (4.6) | 1 (5.3) |  | 29 (9.4) |
 30–40 years | 56 (35.0) | 34 (26.2) | 1 (5.3) |  | 91 (29.5) |
 40–50 years | 36 (22.5) | 48 (36.9) | 7 (36.8) |  | 91 (29.5) |
 50–60 years | 31 (19.4) | 27 (20.8) | 5 (26.3) |  | 63 (20.4) |
 60 + years | 15 (9.4) | 15 (11.5) | 5 (26.3) |  | 35 (11.3) |
Family History in a 1st or 2nd degree relative – n, (%) | |||||
 Breast Cancer | 112 (70.0) | 90 (69.2) | 11 (57.9) | 0.94 | 187 (68.3) |
 Ovarian Cancer | 56 (35.0) | 24 (18.5) | 3 (15.8) | 0.004 | 72 (26.3) |
 Pancreatic Cancer | 21 (13.1) | 13 (10.0) | 3 (15.8) | 0.62 | 37 (12.0) |
 Male Breast Cancer | 4 (2.8) | 8 (7.1) | 1 (5.9) | 0.25 | 13 (4.7) |
Pre-diagnostic awareness of GPV status – n, (%) |  |  |  | 0.18 |  |
 Awareness of GPV prior to breast cancer diagnosis | 44 (27.5) | 25 (19.2) | 3 (15.8) |  | 72 (23.3) |
 Genetic testing after breast cancer diagnosis | 116 (72.5) | 105 (80.8) | 16 (84.2) |  | 237 (76.7) |
Histology – n, (%) |  |  |  | < 0.001 |  |
 Ductal carcinoma in situ (DCIS) | 7 (4.4) | 24 (18.5) | - |  | 31 (11.3) |
 Invasive ductal carcinoma | 128 (80.0) | 84 (64.6) | 16 (84.2) |  | 228 (73.8) |
 Invasive lobular carcinoma | 3 (1.9) | 7 (5.4) | 2 (10.3) |  | 12 (3.9) |
 Other/unknown | 22 (13.8) | 15 (11.5) | 1 (5.3) |  | 38 (12.3) |
Histologic Grade* – n, (%) |  |  |  | < 0.001 |  |
 Grade I | 2 (1.3) | 5 (4.7) | - |  | 7 (2.5) |
 Grade II | 26 (17.0) | 37 (34.9) | 10 (52.6) |  | 73 (26.3) |
 Grade III | 125 (81.7) | 64 (60.4) | 9 (47.4) |  | 198 (71.2) |
Tumor Size* – n, (%) |  |  |  | 0.09 |  |
 T1a/cT1b | 21 (13.7) | 17 (16.0) | 2 (10.5) |  | 40 (14.4) |
 T1c | 38 (24.8) | 27 (25.5) | 5 (26.3) |  | 70 (25.2) |
 T2 | 65 (42.5) | 32 (30.2) | 11 (57.9) |  | 108 (38.9) |
 T3/T4 | 15 (9.8) | 9 (8.5) | 1 (5.3) |  | 25 (9.0) |
 Unknown tumor size | 14 (9.2) | 21 (19.8) | - |  | 35 (12.6) |
Nodal Status* – n, (%) |  |  |  | 0.01 |  |
 N0 | 124 (81.1) | 76 (71.7) | 10 (52.6) |  | 210 (75.5) |
 N1/N2 | 29 (18.9) | 30 (28.3) | 9 (47.4) |  | 68 (24.5) |
Biologic Subtype* – n, (%) |  |  |  | < 0.001 |  |
 ER + HER2- | 38 (25.9) | 65 (69.9) | 12 (63.2) |  | 115 (44.4) |
 HER2+ | 7 (4.8) | 5 (5.4) | 1 (5.3) |  | 13 (5.0) |
 TNBC | 102 (69.4) | 23 (24.7) | 6 (31.6) |  | 131 (50.6) |
Treatment Approach – n, (%) |  |  |  | 0.01 |  |
 Primary/upfront surgery | 92 (57.5) | 96 (73.9) | 10 (52.6) |  | 198 (64.1) |
 Neoadjuvant systemic therapy | 68 (42.5) | 34 (26.2) | 9 (47.4) |  | 111 (35.9) |
Index Breast Surgery – n, (%) |  |  |  | 0.31 |  |
 Breast conserving surgery | 79 (50.3) | 60 (46.9) | 8 (42.1) |  | 147 (48.4) |
 Unilateral mastectomy | 18 (11.5) | 26 (20.3) | 4 (21.1) |  | 48 (15.8) |
 Bilateral mastectomy | 60 (38.2) | 42 (32.8) | 7 (36.8) |  | 109 (34.9) |
Adjuvant Radiotherapy – n, (%) |  |  |  | 0.49 |  |
 Yes | 85 (53.1) | 78 (60.0) | 11 (57.9) |  | 174 (56.3) |
 No | 75 (46.9) | 52 (40.0) | 8 (42.1) |  | 135 (43.7) |
Adjuvant Endocrine Therapy – n, (%) |  |  |  | < 0.001 |  |
 Yes | 33 (20.6) | 61 (46.9) | 9 (47.4) |  | 103 (33.3) |
 No | 127 (79.4) | 69 (53.1) | 10 (52.6) |  | 206 (66.7) |
Any Chemotherapy Receipt†– n, (%) |  |  |  | < 0.001 |  |
 Yes | 129 (80.6) | 74 (56.9) | 16 (84.2) |  | 219 (70.9) |
 No | 31 (19.4) | 56 (43.1) | 3 (15.8) |  | 90 (29.1) |