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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
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Breast Cancer Research

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