Table 1.
Baseline characteristics and clinicopathological information for all patients
| All patients (n=2733) | BRCA1-positive (n=201) | BRCA2-positive (n=137) | BRCA-positive (n=338) | BRCA-negative (n=2395) | p value* | ||
|---|---|---|---|---|---|---|---|
| Age at diagnosis (years) | 36 (34–38, 18–40) | 35 (32–38, 22–40) | 37 (33–38, 21–40) | 36 (32–38, 21–40) | 37 (34–39, 18–40) | BRCA-positive vs BRCA-negative p<0·0001, BRCA1-positive vs BRCA2-positive p=0·014 | |
| BMI (kg/m2) | BRCA-positive vs BRCA-negative p=0·48, BRCA1-positive vs BRCA2-positive p=0·40 | ||||||
| <25 | 1427/2632 (54%) | 114/192 (59%) | 70/133 (53%) | 184/325 (57%) | 1243/2307 (54%) | ||
| ≥25 to <30 | 714/2632 (27%) | 47/192 (25%) | 41/133 (31%) | 88/325 (27%) | 626/2307 (27%) | ||
| ≥30 | 491/2632 (19%) | 31/192 (16%) | 22/133 (17%) | 53/325 (16%) | 438/2307 (19%) | ||
| Missing | 101 (4%) | 9 (5%) | 4 (3%) | 13 (4%) | 88 (4%) | ||
| Ethnicity | BRCA-positive vs BRCA-negative p=0·28, BRCA1-positive vs BRCA2-positive p=0·99 | ||||||
| White | 2494/2698 (92%) | 178/196 (91%) | 122/134 (91%) | 300/330 (91%) | 2194/2368 (93%) | ||
| Black | 103/2698 (4%) | 10/196 (5%) | 6/134 (5%) | 16/330 (5%) | 87/2368 (4%) | ||
| Asian | 80/2698 (3%) | 5/196 (3%) | 4/134 (3%) | 9/330 (3%) | 71/2368 (3%) | ||
| Other | 21/2698 (<1%) | 3/196 (2%) | 2/134 (2%) | 5/330 (2%) | 16/2368 (<1%) | ||
| Missing | 35 (1%) | 5 (3%) | 3 (2%) | 8 (2%) | 27 (1%) | ||
| Histological grade | BRCA-positive vs BRCA-negative p<0·0001, BRCA1-positive vs BRCA2-positive p<0·0001 | ||||||
| 1 | 156/2658 (6%) | 2/197 (1%) | 0 | 2/326 (<1%) | 154/2332 (7%) | ||
| 2 | 904/2658 (34%) | 16/197 (8%) | 40/129 (31%) | 56/326 (17%) | 848/2332 (36%) | ||
| 3 | 1598/2658 (60%) | 179/197 (91%) | 89/129 (69%) | 268/326 (82%) | 1330/2332 (57%) | ||
| Missing or not graded | 75 (3%) | 4 (2%) | 8 (6%) | 12 (4%) | 63 (3%) | ||
| Oestrogen-receptor status | BRCA-positive vs BRCA-negative p<0·0001, BRCA1-positive vs BRCA2-positive p<0·0001 | ||||||
| Negative | 908/2719 (33%) | 151/200 (76%) | 21/136 (15%) | 172/336 (51%) | 736/2383 (31%) | ||
| Positive | 1811/2719 (67%) | 49/200 (25%) | 115/136 (85%) | 164/336 (49%) | 1647/2383 (69%) | ||
| Missing | 14 (<1%) | 1 (<1%) | 1 (<1%) | 2 (<1%) | 12 (<1%) | ||
| HER2 status | BRCA-positive vs BRCA-negative p<0·0001, BRCA1-positive vs BRCA2-positive p=0·18 | ||||||
| Negative | 1763/2412 (73%) | 164/176 (93%) | 111/125 (89%) | 275/301 (91%) | 1488/2111 (71%) | ||
| Positive | 649/2412 (27%) | 12/176 (7%) | 14/125 (11%) | 26/301 (9%) | 623/2111 (30%) | ||
| Missing | 321 (12%) | 25 (12%) | 12 (9%) | 37 (11%) | 284 (12%) | ||
| Progesterone-receptor status | BRCA-positive vs BRCA-negative p<0·0001, BRCA1-positive vs BRCA2-positive p<0·0001 | ||||||
| Negative | 951/2208 (43%) | 144/171 (84%) | 23/107 (22%) | 167/278 (60%) | 784/1930 (41%) | ||
| Positive | 1257/2208 (57%) | 27/171 (16%) | 84/107 (79%) | 111/278 (40%) | 1146/1930 (59%) | ||
| Missing | 525 (19%) | 30 (15%) | 30 (22%) | 60 (18%) | 465 (19%) | ||
| †Triple-negative breast cancer status | BRCA-positive vs BRCA-negative p<0·0001, BRCA1-positive vs BRCA2-positive p<0·0001 | ||||||
| No | 2175/2733 (80%) | 78/201 (39%) | 124/137 (91%) | 202/338 (60%) | 1973/2395 (82%) | ||
| Yes | 558/2733 (20%) | 123/201 (61%) | 13/137 (10%) | 136/338 (40%) | 422/2395 (18%) | ||
| Maximum invasive tumour size (mm) | 22 (15–33, 0–170) | 21 (15–30, 1–140) | 25 (16–32, 1–92) | 22 (15–31, 1–140) | 22 (15–34, 0–170) | BRCA-positive vs BRCA-negative p=0·97, BRCA1-positive vs BRCA2-positive p=0·060 | |
| Missing | 156 (6%) | 10 (5%) | 14 (10%) | 24 (7%) | 132 (6%) | ||
| Pathological N stage | BRCA-positive vs BRCA-negative p=0·013, BRCA1-positive vs BRCA2-positive p<0·0001 | ||||||
| 0 | 1304/2692 (48%) | 129/201 (64%) | 55/135 (41%) | 184/336 (55%) | 1120/2356 (48%) | ||
| 1 | 1388/2692 (52%) | 72/201 (36%) | 80/135 (59%) | 152/336 (45%) | 1236/2356 (53%) | ||
| Axillary nodal involvement | BRCA-positive vs BRCA-negative p=0·019, BRCA1-positive vs BRCA2-positive p=0·00017 | ||||||
| 1–3 | 899/2692 (33%) | 43/201 (21%) | 51/135 (38%) | 94/336 (28%) | 805/2356 (34%) | ||
| 4–9 | 330/2692 (12%) | 14/201 (7%) | 19/135 (14%) | 33/336 (10%) | 297/2356 (13%) | ||
| ≥10 | 159/2692 (6%) | 15/201 (8%) | 10/135 (7%) | 25/336 (7%) | 134/2356 (6%) | ||
| Missing | 41 (2%) | 0 | 2 (2%) | 2 (<1%) | 39 (2%) | ||
| Lymphovascular invasion | BRCA-positive vs BRCA-negative p=0·23, BRCA1-positive vs BRCA2-positive p=0·013 | ||||||
| Absent | 1327/2539 (52%) | 116/190 (61%) | 58/124 (47%) | 174/314 (55%) | 1153/2225 (52%) | ||
| Present | 1212/2539 (48%) | 74/190 (39%) | 66/124 (53%) | 140/314 (45%) | 1072/2225 (48%) | ||
| Missing | 194 (7%) | 11 (6%) | 13 (10%) | 24 (7%) | 170 (7%) | ||
| Chemotherapy | BRCA-positive vs BRCA-negative p=0·0058, BRCA1-positive vs BRCA2-positive p=0·016 | ||||||
| None | 294/2733 (11%) | 9/201 (5%) | 11/137 (8%) | 20/338 (6%) | 274/2395 (11%) | ||
| Adjuvant | 2027/2733 (74%) | 171/201 (85%) | 99/137 (72%) | 270/338 (80%) | 1757/2395 (73%) | ||
| Neoadjuvant | 412//2733 (15%) | 21/201 (10%) | 27/137 (20%) | 48/338 (14%) | 364/2395 (15%) | ||
| Type of surgery | BRCA-positive vs BRCA-negative p=0·30, BRCA1-positive vs BRCA2-positive p=0·00040 | ||||||
| Breast-conserving surgery | 1337/2733 (49%) | 106/201 (53%) | 43/137 (31%) | 149/338 (44%) | 1188 (50%) | ||
| Mastectomy | 1373/2733 (50%) | 94/201 (47%) | 92/137 (67%) | 186/338 (55%) | 1187/2395 (50%) | ||
| Nodal surgery only | 7/2733 (<1%) | 1/201 (<1%) | 0 | 1/338 (<1%) | 6/2395 (<1%) | ||
| None | 16/2733 (<1%) | 0 | 2/137 (2%) | 2/338 (<1%) | 14/2395 (<1%) | ||
| Chemotherapy regimen | BRCA-positive vs BRCA-negative p=0·015, BRCA1-positive vs BRCA2-positive p=0·38 | ||||||
| None | 294/2733 (11%) | 9/201 (5%) | 11/137 (8%) | 20/338 (6%) | 274/2395 (11%) | ||
| Anthracyclines | 1760/2733 (64%) | 145/201 (72%) | 89/137 (65%) | 234/338 (69%) | 1526/2395 (64%) | ||
| Taxanes | 24/2733 (<1%) | 0 | 1/137 (<1%) | 1/338 (<1%) | 23/2395 (1%) | ||
| Anthracyclines and taxanes | 635/2733 (23%) | 45/201 (22%) | 34/137 (25%) | 79/338 (23%) | 556/2395 (23%) | ||
| Other (including CMF) | 20/2733 (<1%) | 2/201 (1%) | 2/137 (2%) | 4/338 (1%) | 16/2395 (<1%) | ||
Data are median (IQR, range) or n (%). Patients with missing data were not included in the p value calculation. BMI=body-mass index. CMF=cyclophosphamide plus methotrexate plus fluorouracil.
*
Test excluded patients with both BRCA1 and BRCA2 mutations. Mann-Whitney tests used for continuous variables and Pearson χ2 tests for categorical variables, done on patients with complete data.
†
Defined as oestrogen-receptor-negative, HER2-negative, and progesterone-receptor-negative or unknown.