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Table 3 Genotype and per-allele hazard ratio estimates by estrogen receptor status for BRCA2 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

794 (37.8)

86 (32.7)

248 (29.5)

457 (29.8)

1.00

  

1.00

   

GA

987 (47.0)

137 (52.1)

419 (49.8)

755 (49.3)

1.28

0.99 to 1.67

 

1.35

1.17 to 1.55

  

AA

321 (15.3)

40 (15.2)

174 (20.7)

320 (20.9)

1.23

0.85 to 1.78

 

1.81

1.51 to 2.18

  

Per-allele

    

1.14

0.97 to 1.35

0.12

1.35

1.23 to 1.48

1.4 × 10 -10

0.097

TOX3/TNRC9 rs3803662

          

CC

1,088 (53.4)

136 (53.3)

377 (46.3)

702 (48.2)

1.00

  

1.00

   

CT

792 (38.9)

96 (37.7)

361 (44.3)

604 (41.5)

0.98

0.75 to 1.27

 

1.33

1.17 to 1.53

  

TT

157 (7.7)

23 (9.0)

77 (9.5)

150 (10.3)

1.27

0.83 to 1.93

 

1.54

1.22 to 1.95

  

Per-allele

    

1.06

0.88 to 1.29

0.53

1.28

1.16 to 1.41

1.5 × 10 -6

0.11

MAP3K1 rs889312

           

AA

1,107 (51.1)

121 (45.7)

430 (50.3)

746 (47.7)

1.00

  

1.00

   

AC

888 (41.0)

120 (45.3)

349 (40.8)

646 (41.3)

1.23

0.96 to 1.59

 

1.03

0.90 to 1.17

  

CC

170 (7.9)

24 (9.1)

76 (8.9)

172 (11.0)

1.42

0.93 to 2.16

 

1.29

1.03 to 1.62

  

Per-allele

    

1.21

1.01 to 1.45

0.039

1.09

0.99 to 1.21

0.08

0.35

LSP1 rs3817198

           

TT

1,075 (46.1)

142 (44.4)

429 (42.0)

718 (42.7)

1.00

  

1.00

   

TC

1,005 (43.1)

146 (45.6)

466 (45.6)

759 (45.2)

1.08

0.86 to 1.36

 

1.14

1.01 to 1.29

  

CC

252 (10.8)

32 (10.0)

127 (12.4)

203 (12.1)

1.02

0.68 to 1.51

 

1.39

1.14 to 1.70

  

Per-allele

    

1.03

0.87 to 1.22

0.70

1.17

1.07 to 1.28

5.5 × 10 -4

0.20

2q35 rs13387042

           

GG

571 (25.3)

71 (23.0)

216 (22.0)

382 (23.1)

1.00

  

1.00

   

GA

1,080 (47.8)

156 (50.5)

500 (50.8)

809 (48.8)

1.12

0.85 to 1.47

 

1.18

1.01 to 1.36

  

AA

608 (26.9)

82 (26.5)

268 (27.2)

466 (28.1)

1.06

0.78 to 1.45

 

1.13

0.95 to 1.34

  

Per-allele

    

1.03

0.87 to 1.19

0.71

1.06

0.97 to 1.15

0.20

0.75

8q24 rs13281615

           

AA

794 (34.1)

99 (31.6)

317 (31.7)

524 (31.3)

1.00

  

1.00

   

AG

1,156 (49.6)

165 (52.7)

511 (51.1)

837 (49.9)

1.08

0.85 to 1.38

 

1.05

0.92 to 1.21

  

GG

382 (16.4)

49 (15.7)

172 (17.2)

315 (18.8)

1.05

0.75 to 1.46

 

1.13

0.94 to 1.35

  

Per-allele

    

1.04

0.89 to 1.21

0.66

1.06

0.97 to 1.16

0.19

0.80

SLC4A7/NEK10 rs4973768

          

CC

669 (26.5)

82 (24.9)

251 (22.6)

401 (23.5)

1.00

  

1.00

   

CT

1,241 (49.1)

164 (49.9)

546 (49.4)

829 (48.7)

1.05

0.81 to 1.36

 

1.14

0.99 to 1.31

  

TT

618 (24.5)

83 (25.2)

311 (28.0)

474 (27.8)

1.04

0.77 to 1.41

 

1.27

1.08 to 1.50

  

Per-allele

    

1.02

0.88 to 1.19

0.78

1.13

1.04 to 1.22

0.0043

0.25

STXBP4/COX11 rs6504950

          

GG

1,420 (55.6)

171 (51.0)

601 (53.1)

896 (52.5)

1.00

  

1.00

   

GA

951 (37.2)

145 (43.3)

444 (39.3)

684 (40.1)

1.27

1.03 to 1.58

 

1.09

0.97 to 1.23

  

AA

184 (7.2)

19 (5.7)

86 (7.6)

127 (7.4)

0.84

0.54 to 1.30

 

1.08

0.87 to 1.34

  

Per-allele

    

1.07

0.92 to 1.25

0.36

1.06

0.97 to 1.16

0.19

0.91

5p12 rs10941679

           

AA

1,372 (58.6)

176 (54.8)

584 (54.8)

924 (56.3)

1.00

  

1.00

   

AG

824 (35.2)

122 (38.0)

425 (39.9)

622 (37.9)

1.08

0.86 to 1.37

 

1.15

1.01 to 1.30

  

GG

146 (6.2)

23 (7.2)

57 (5.4)

94 (5.7)

1.25

0.82 to 1.91

 

0.94

0.73 to 1.22

  

Per-allele

    

1.10

0.92 to 1.31

0.28

1.06

0.96 to 1.17

0.23

0.70

6q25.1 - rs2046210

           

CC

985 (39.8)

121 (39.2)

466 (42.1)

634 (37.7)

1.00

  

1.00

   

TC

1,165 (47.1)

132 (42.7)

499 (45.1)

802 (47.7)

0.99

0.78 to 1.12

 

0.96

0.85 to 1.08

  

TT

324 (13.1)

56 (18.1)

141 (12.8)

247 (14.7)

1.47

1.08 to 2.01

 

0.94

0.78 to 1.12

  

Per-allele

    

1.17

0.99 to 1.38

0.059

0.97

0.89 to 1.05

0.41

0.045

1p11.2 - rs11249433

           

TT

895 (35.9)

107 (33.6)

345 (31.4)

599 (34.7)

1.00

  

1.00

   

CT

1,226 (49.2)

160 (50.3)

553 (50.3)

843 (48.9)

1.00

0.79 to 1.28

 

1.08

0.96 to 1.23

  

CC

371 (14.9)

51 (16.0)

202 (18.4)

282 (16.4)

1.00

0.73 to 1.40

 

1.27

1.08 to 1.50

  

Per-allele

    

1.00

0.86 to 1.17

0.98

1.12

1.03 to 1.22

0.0065

0.23

RAD51L1 - rs999737/rs10483813

          

BRCA1

CC/TT

1,368 (59.5)

167 (59.0)

589 (61.4)

1,000 (62.0)

1.00

  

1.00

  

TC/AT

789 (34.3)

104 (36.8)

323 (33.6)

534 (33.1)

1.06

0.84 to 1.35

 

0.94

0.83 to 1.07

  

TT/AA

141 (6.1)

12 (4.2)

48 (5.0)

80 (4.9)

0.74

0.42 to 1.32

 

0.87

0.67 to 1.14

  

Per-allele

    

0.97

0.80 to 1.17

0.73

0.94

0.85 to 1.03

0.20

0.77

  1. P-het, Heterogeneity P-value; ER-, estrogen receptor negative; ER+, estrogen receptor positive