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Table 2 Genotype and per-allele hazard ratio estimates by estrogen receptor status for BRCA1 mutation carriers

From: Common breast cancer susceptibility alleles are associated with tumour subtypes in BRCA1 and BRCA2 mutation carriers: results from the Consortium of Investigators of Modifiers of BRCA1/2

Genotype Unaffected, Affected by subtype, N (%) ER- ER+ P-het
  N (%) ER- ER+ Unknown HR 95% CI P-trend HR 95% CI P-trend  
FGFR2 rs2981582            
GG 1301 (36.2) 447 (40.0) 104 (29.6) 869 (35.1) 1.00    1.00    
GA 1,721 (47.9) 516 (46.2) 166 (47.3) 1190 (48.1) 0.93 0.83 to 1.03   1.24 0.98 to 1.57   
AA 573 (15.9) 154 (13.8) 81 (23.1) 416 (16.8) 0.82 0.70 to 0.96   1.85 1.40 to 2.44   
Per-allele      0.91 0.85 to 0.98 0.01 1.35 1.17 to 1.56 4 × 10 -5 6.5 ×10 -6
TOX3/TNRC9 rs3803662            
CC 1,811 (52.0) 545 (49.5) 154 (45.7) 1195 (50.2) 1.00    1.00    
CT 1,405 (40.3) 461 (41.8) 143 (42.4) 987 (41.5) 1.06 0.96 to 1.18   1.20 0.97 to 1.50   
TT 269 (7.7) 96 (8.7) 40 (11.9) 199 (8.4) 1.09 0.90 to 1.31   1.61 1.14 to 2.27   
Per-allele      1.05 0.97 to 1.13 0.21 1.25 1.06 to 1.46 0.0062 0.07
MAP3K1 rs889312            
AA 1,858 (49.6) 569 (49.7) 186 (52.1) 1319 (51.6) 1.00    1.00    
AC 1,552 (41.4) 480 (41.9) 136 (38.1) 987 (38.6) 0.97 0.87 to 1.07   0.86 0.69 to 1.06   
CC 336 (9.0) 97 (8.5) 35 (9.8) 250 (9.8) 0.97 0.81 to 1.16   0.97 0.69 to 1.35   
Per-allele      0.98 0.91 to 1.06 0.56 0.97 0.83 to 1.13 0.69 0.92
LSP1 rs3817198            
TT 1,894 (47.4) 652 (45.4) 195 (44.5) 1205 (43.7) 1.00    1.00    
TC 1,680 (42.0) 629 (43.8) 197 (45.0) 1239 (44.9) 1.09 0.99 to 1.20   1.11 0.92 to 1.35   
CC 422 (10.6) 154 (10.7) 46 (10.5) 315 (11.4) 1.13 0.97 to 1.33   1.10 0.80 to 1.50   
Per-allele      1.07 1.00 to 1.15 0.047 1.07 0.93 to 1.22 0.33 0.98
2q35 rs13387042            
GG 924 (24.0) 301 (22.1) 93 (22.2) 576 (21.4) 1.00    1.00    
GA 1,855 (48.3) 723 (53.1) 194 (46.3) 1370 (50.9) 1.17 1.04 to 1.32   1.02 0.81 to 1.30   
AA 1,064 (27.7) 338 (24.8) 132 (31.5) 745 (27.7) 0.96 0.84 to 1.11   1.25 0.97 to 1.62   
Per-allele      0.98 0.91 to 1.04 0.48 1.13 0.99 to 1.28 0.075 0.065
8q24 rs13281615            
AA 1,319 (32.8) 502 (35.9) 143 (33.7) 897 (32.5) 1.00    1.0    
AG 2,008 (50.0) 657 (47.0) 198 (46.7) 1,364 (49.5) 0.98 0.88 to 1.08   0.97 0.79 to 1.19   
GG 691 (17.9) 238 (17.0) 83 (19.6) 496 (18.0) 1.00 0.87 to 1.16   1.17 0.89 to 1.53   
Per-allele      1.00 0.93 to 1.07 0.93 1.06 0.93 to 1.22 0.38 0.43
SLC4A7/NEK10 rs4973768           
CC 1,148 (26.2) 406 (27.2) 103 (22.2) 691 (24.7) 1.00    1.00    
CT 2,205 (50.4) 736 (49.3) 235 (50.5) 1,399 (50.1) 0.98 0.88 to 1.08   1.20 0.96 to 1.51   
TT 1,024 (23.4) 350 (23.5) 127 (27.3) 703 (25.2) 0.99 0.87 to 1.12   1.38 1.07 to 1.77   
Per-allele      0.99 0.93 to 1.06 0.83 1.17 1.03 to 1.33 0.013 0.027
STXBP4/COX11 rs6504950           
GG 2,346 (53.1) 814 (53.2) 252 (52.9) 1,502 (53.1)) 1.00    1.00    
GA 1,737 (39.3) 593 (37.8) 191 (40.1) 1,127 (39.8) 1.00 0.91 to 1.10   1.03 0.86 to 1.24   
AA 333 (7.5) 122 (8.0) 33 (6.9) 200 (7.1) 1.04 0.88 to 1.23   0.94 0.65 to 1.34   
Per-allele      1.01 0.94 to 1.09 0.77 1.00 0.87 to 1.15 0.97 0.87
5p12 rs10941679           
AA 2,211 (55.8) 815 (57.3) 271 (61.0) 1,529 (56.5) 1.00    1.00    
AG 1,472 (37.1) 517 (36.4) 145 (32.7) 1,001 (37.0) 0.99 0.90 to 1.09   0.84 0.69 to 1.02   
GG 280 (7.1) 90 (6.3) 28 (6.3) 177 (6.5) 0.89 0.73 to 1.08   0.84 0.58 to 1.20   
Per-allele      0.97 0.90 to 1.04 0.39 0.88 0.75 to 1.02 0.08 0.26
6q25.1 - rs2046210            
CC 1,886 (43.3) 567 (38.2) 158 (36.0) 1,007 (37.0) 1.00    1.00    
TC 1,919 (44.1) 718 (48.3) 232 (52.9) 1,305 (48.0) 1.21 1.10 to 1.33   1.37 1.13 to 1.67   
TT 547 (12.6) 201 (13.5) 49 (11.2) 409 (15.0) 1.39 1.21 to 1.59   1.11 0.81 to 1.53   
Per-allele      1.19 1.11 to 1.27 2.4 × 10 -7 1.14 1.01 to 1.30 0.043 0.60
1p11.2 - rs11249433            
TT 1,491 (34.1) 506 (33.7) 144 (32.4) 973 (35.1) 1.00    1.00    
CT 2,133 (48.7) 745 (49.7) 245 (55.2) 1,342 (48.5) 0.97 0.88 to 1.07   1.10 0.90 to 1.34   
CC 752 (17.2) 248 (16.5) 55 (12.4) 455 (16.4) 0.99 0.87 to 1.13   0.76 0.56 to 1.03   
Per-allele      0.99 0.93 to 1.06 0.79 0.92 0.81 to 1.05 0.22 0.35
RAD51L1 - rs999737/rs10483813           
CC/TT 2,335 (61.5) 760 (64.1) 212 (62.5) 1,551 (62.5) 1.00    1.00    
TC/AT 1,294 (34.1) 370 (31.2) 113 (33.3) 819 (33.0) 0.92 0.83 to 1.03   1.00 0.80 to 1.24   
TT/AA 170 (4.5) 56 (4.7) 14 (4.1) 110 (4.4) 1.02 0.81 to 1.28   0.93 0.56 to 1.56   
per allele      0.96 0.88 to 1.04 0.34 0.98 0.82 to 1.18 0.87 0.81
  1. P-het, Heterogeneity P-value; ER-, estrogen receptor negative; ER+, estrogen receptor positive