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Table 3 Breast tumor characteristics of BRCA1, BRCA2, and transheterozygote BRCA1 + BRCA2 mutation carriers

From: Inheritance of deleterious mutations at both BRCA1 and BRCA2 in an international sample of 32,295 women

Trait Value BRCA1 + BRCA2 (TH) N(%) BRCA1 (SH1) N(%) P value BRCA1 + BRCA2 (TH) N(%) BRCA2 (SH2) N(%) P value
N   62 4846   60 1699  
HER2 Negative 14 (93.3) 908 (88.7) 1.00 15 (93.8) 274 (86.2) 0.706
Positive 1 (7.7) 116 (11.3)   1 (6.3) 44 (13.8)  
PR Negative 19 (59.4) 1260 (80.0) 0.013 19 (59.4) 215 (37.2) 0.012
Positive 13 (40.6) 356 (20.0)   13 (40.6) 363 (62.8)  
ER Negative 20 (57.1) 1347 (76.0) 0.010 20 (57.1) 150 (23.5) <0.0001
Positive 15 (42.9) 424 (24.0)   15 (42.9) 487 (76.5)  
Nodal status Negative 20 (66.7) 1197 (65.1) 0.854 19 (65.5) 399 (61.3) 0.647
Positive 10 (33.3) 643 (35.0)   10 (34.5) 252 (38.7)  
Grade Well differentiated 2 (7.1) 36 (2.3) 0.161 2 (7.1) 36 (6.4) 0.690
Moderately differentiated 8 (28.8) 342 (22.1)   8 (28.8) 207 (36.6)  
Poorly/undifferentiated 18 (64.3) 1172 (75.6)   18 (64.3) 322 (57.0)  
Stage 0 1 (4.8) 34 (3.6) 0.541 1 (4.6) 48 (13.9) 0.065
1 7 (33.3) 399 (42.2)   7 (31.8) 123 (35.7)  
2 13 (61.9) 440 (46.6)   14 (63.6) 124 (35.9)  
3 0 (0) 65 (6.9)   0 (0) 36 (10.4)  
4 0 (0) 7 (0.7)   0 (0) 14 (4.1)  
Morphology Ductal 26 (70.3) 1544 (74.3) 0.345 27 (73.0) 629 (78.8) 0.359
Lobular 3 (8.1) 61 (2.9)   3 (8.1) 70 (8.8)  
Medullary 3 (8.1) 173 (8.3)   2 (5.4) 13 (1.6)  
Other 5 (13.5) 301 (14.5)   5 (13.5) 86 (10.8)  
Number of positive nodes (SD)   2 (6.1) 1.2 (3.4) 0.215 2.1 (6.2) 1.7 (3.9) 0.627
Tumor size (SD)   19.0 (14.9) 18.3 (12.5) 0.775 19.0 (14.9) 19.2 (14.6) 0.932
  1. Significant p values are shown in bold type
  2. ER estrogen receptor, PR progesterone receptor, SD standard deviation