Table 3 Association of selected alleles in BRCA1, PALB2, CHEK2 and NBN with risk of male breast cancer

BRCA1

c.5263_5264insC

1

165

0.6%

13

4000

0.32%

1.87

0.24–14.38

0.54

c.181 T > G

0

165

0.0%

3

4000

0.08%

–

–

c.4035delA

0

165

0.0%

1

4000

0.03%

–

–

Any BRCA1

1

165

0.6%

17

4000

0.42%

1.43

0.19–10.80

0.73

PALB2

509_510delGA

4

165

2.4%

7

4702

0.1%

16.70

4.83–57.50

< 0.001

172_175deITTGT

0

165

0.0%

3

4702

0.05%

–

–

Any PALB2

4

165

2.4%

10

4702

0.15%

11.66

3.62–37.57

< 0.001

CHEK2

1100delC

3

165

1.8%

12

5496

0.2%

8.46

2.37–30.29

0.001

c.444 + 1G > A

1

165

0.6%

22

5496

0.4%

1.52

0.20–11.32

0.68

del5395 (ex10-11del)

1

165

0.6%

24

5496

0.4%

1.39

0.19–10.34

0.75

CHEK2 truncating

5

165

3.0%

58

5496

1.1%

2.93

1.16–7.40

0.02

c.470C > T

9

165

5.5%

264

5496

4.8%

1.28

0.59–2.17

0.84

Any CHEK2

14

165

8.5%

321

5496

5.8%

1.45

0.87–2.42

0.21

NBN

c.657_661delACAAA

1

165

0.6%

22

4000

0.55%

1.10

0.15–8.23

0.92