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Table 2 SNP genotype distributions and associations with breast cancer risk.

From: Common variants at 12p11, 12q24, 9p21, 9q31.2 and in ZNF365 are associated with breast cancer risk for BRCA1 and/or BRCA2mutation carriers

Mutation Genotype Unaffected
N (%)
Affecteda
N (%)
HR 95% CI P-value
CDK2NA/B - rs1011970      
BRCA1 GG 4,318 (69.7) 4,460 (70.0) 1   
  GT 1,698 (27.4) 1,719 (27.0) 1.01 0.94 to 1.09  
  TT 180 (2.9) 195 (3.1) 1.11 0.91 to 1.35  
  2-df test      0.61
  per allele    1.03 0.96 to 1.09 0.45
BRCA2 GG 2,279 (68.7) 2,586 (67.9) 1   
  GT 943 (28.4) 1,098 (28.9) 1.08 0.98 to 1.19  
  TT 94 (2.8) 123 (3.2) 1.23 0.95 to 1.59  
  2-df test      0.12
  per allele    1.09 1.00 to 1.18 0.048
ZNF365 - rs10995190     
BRCA1 GG 4,394 (70.9) 4,556 (71.5) 1   
  GA 1,656 (26.7) 1,662 (26.1) 0.98 0.91 to 1.06  
  AA 147 (2.4) 156 (2.5) 0.98 0.79 to 1.20  
  2-df test      0.89
  per allele    0.99 0.93 to 1.05 0.64
BRCA2 GG 2,334 (70.4) 2,802 (73.7) 1   
  GA 913 (27.5) 923 (24.3) 0.86 0.78 to 0.96  
  AA 68 (20.1) 79 (2.1) 0.96 0.69 to 1.34  
  2-df test      0.019
  per allele    0.90 0.82 to 0.98 0.015
ZMIZ1 - rs704010     
BRCA1 CC 2,476 (40.3) 2,504 (39.8) 1   
  CT 2,814 (45.8) 2,894 (46.0) 1.03 0.96 to 1.10  
  TT 855 (13.9) 888 (14.1) 1.04 0.93 to 1.15  
  2-df test      0.69
  per allele    1.02 0.97 to 1.07 0.42
BRCA2 CC 1,286 (39.3) 1,443 (38.4) 1   
  CT 1,496 (45.7) 1,779 (47.3) 1.07 0.97 to 1.18  
  TT 494 (15.8) 539 (14.3) 0.99 0.86 to 1.14  
  2-df test      0.32
  per allele    1.01 0.95 to 1.08 0.73
10p15 - rs2380205      
BRCA1 CC 1,609 (32.5) 1,710 (32.1) 1   
  CT 2,410 (48.7) 2,625 (49.3) 1.01 0.93 to 1.09  
  TT 933 (18.8) 990 (18.6) 1.02 0.92 to 1.13  
  2-df test      0.95
  per allele    1.01 0.96 to 1.06 0.75
BRCA2 CC 1,013 (32.8) 1,163 (31.8) 1   
  CT 1,516 (49.1) 1,816 (49.7) 1.05 0.95 to 1.16  
  TT 560 (18.1) 681 (18.6) 1.03 0.90 to 1.17  
  2-df test      0.63
  per allele    1.02 0.96 to 1.09 0.57
11q13 - rs614367     
BRCA1 CC 4,516 (73.2) 4,581 (72.1) 1   
  CT 1,511 (24.5) 1,618 (25.5) 1.05 0.98 to 1.14  
  TT 146 (2.4) 154 (2.4) 1.07 0.87 to 1.32  
  2-df test      0.34
  per allele    1.05 0.98 to 1.12 0.15
BRCA2 CC 2,432 (73.6) 2,723 (71.8) 1   
  CT 799 (24.1) 983 (26.0) 1.06 0.96 to 1.17  
  TT 76 (2.3) 83 (2.2) 0.97 0.72 to 1.30  
  2-df test      0.54
  per allele    1.03 0.95 to 1.12 0.46
12q24 - rs1292011     
BRCA1 AA 1,292 (34.3) 1,331 (35.4) 1   
  AG 1,825 (48.4) 1,775 (47.3) 0.98 0.89 to 1.07  
  GG 653 (17.3) 649 (17.3) 1.01 0.90 to 1.14  
  2-df test      0.80
  per allele    1.00 0.94 to 1.06 0.99
BRCA2 AA 824 (35.2) 908 (35.9) 1   
  AG 1,095 (46.7) 1,225 (48.4) 1.03 0.92 to 1.16  
  GG 423 (18.1) 397 (15.7) 0.84 0.72 to 0.99  
  2-df test      0.03
  per allele    0.94 0.87 to 1.01 0.10
PTHLH - rs10771399      
BRCA1 AA 4,913 (79.4) 5,221 (82.0) 1   
  AG 1,194 (19.3) 1,082 (17.0) 0.87 0.80 to 0.95  
  GG 83 (1.3) 65 (1.0) 0.77 0.57 to 1.04  
  2-df test      1.5 × 10 -3
  per allele    0.87 0.81 to 0.94 3.2 × 10 -4
BRCA2 AA 2,649 (80.0) 3,085 (81.2) 1   
  AG 620 (18.7) 679 (17.9) 0.95 0.85 to 1.07  
  GG 45 (1.4) 34 (0.9) 0.74 0.47 to 1.15  
  2-df test      0.31
  per allele    0.93 0.84 to 1.04 0.20
9q31.2 - rs865686      
BRCA1 TT 2,521 (40.1) 2,640 (41.4) 1   
  TG 2,872 (46.4) 2,849 (44.7) 0.95 0.88 to 1.01  
  GG 799 (12.9) 880 (13.8) 1.05 0.95 to 1.17  
  2-df test      0.06
  per allele    1 0.96 to 1.05 0.85
BRCA2 TT 1,277 (38.6) 1,581 (41.6) 1   
  TG 1,610 (48.6) 1,717 (45.2) 0.86 0.78 to 0.95  
  GG 425 (12.8) 501 (13.2) 0.96 0.84 to 1.11  
  2-df test      7.3 × 10 -3
  per allele    0.95 0.89 to 1.01 0.10
  1. a Breast Cancer
  2. HR, hazard ratio