Table 3 Coding and intronic (MAF>5%) sequence variations and genotype frequencies in familial breast cancer cases and controls

2

c.60-51A>T

Cases

54

44 (44.3)

10 (9.2)

0 (0.5)

0.093

0.453

Controls

62

49 (47.9)

11 (13.2)

2 (0.9)

0.121

0.192

5*

c.632C>T

Cases

52

22 (19.8)

20 (24,4)

10 (7.8)

0.385

0.176

Controls

71

26 (29.8)

40 (32.4)

5 (8.8)

0.344

0.048

6

c.946G>A

Cases

53

50 (48.1)

1 (4.7)

2 (0.1)

0.047

<0.001

Controls

68

68 (68.0)

0 (0.0)

0 (0.0)

0.000

-

7

c.1326A>G

Cases

54

51 (49.1)

1 (4.9)

2(0.0)

0.046

<0.001

Controls

72

68 (68.1)

4 (3.9)

0(0.1)

0.028

0.808

8

c.1488C>T

Cases

51

50 (50.0)

1 (1.0)

0 (0.0)

0.010

0.944

Controls

73

73 (73.0)

0 (0.0)

0(0.0)

0.000

-

11

c.1776A>T

Cases

53

21 (18.0)

20 (26.0)

12 (9.0)

0.415

0.105

Controls

70

25 (29.6)

41 (31.8)

4 (8.6)

0.350

0.016

12

c.1815T>C

Cases

53

21 (18.5)

21 (25.5)

11 (9.0)

0.406

0.194

Controls

71

25 (25.5)

35 (34.1)

11 (11.4)

0.401

0.828

13

c.1950G>A

Cases

53

50 (48.2)

1 (4.8)

2(0.0)

0.047

<0.001

Controls

71

68 (68.0)

3 (2.9)

0(0.1)

0.021

0.856

14

c.2290A>G

Cases

50

49 (49.0)

1 (1.0)

a (0.0)

0.010

0.943

Controls

72

72 (72.0)

0 (0.0)

0 (0.0)

0.000

-

15

c.2634-74T>C

Cases

54

21 (18.3)

21 (26.3)

12 (9.4)

0.417

0.142

Controls

51

15 (18.2)

31 (24.6)

5 (8.2)

0.402

0.059

16

c.2875G>A

Cases

48

4S (43.2)

1 (4.8)

2(0.0)

0.052

<0.001

Controls

68

64(64.0)

4 (3.9)

0(0.1)

0.028

0.803

18

c.3120G>A

Cases

52

49 (47.3)

1 (4.7)

2 (0.0)

0.048

<0.001

Controls

70

66(66.0)

4 (3.9)

0(0.1)

0.028

0.806

20

c.3357+128G>A

Cases

54

27 (27.5)

23(22.1)

4(4.4)

0.287

0.765

Controls

64

41 (40.7)

20 (20.7)

3 (2.6)

0.203

0.781

22

c.3726-47A>C

Cases

54

41 (40.0)

11 (13.0)

2 (1.0)

0.139

0.275

Controls

65

44(43.2)

18(19.6)

3(2.2)

0.185

0.518

25

c.4383-232T>G

Cases

63

33 (19.9)

19 (25.2)

11 (7.9)

0.387

0.013

Controls

65

23 (25.9)

36 (30.3)

6(8.8)

0.369

0.127

26

c.4383-177C>T

Cases

54

39(40.0)

15(13.0)

0(1.0)

0.139

0.236

Controls

65

37(37.0)

24 (24.1)

4(3.9)

0.246

0.967

27

c.5208T>C

Cases

51

39 (16.3)

19 (25.0)

13 (9.7)

0.441

0.081

Controls

65

23 (23.4)

32 (31.2)

10(10.4)

0.400

0.836

28

c.5288+130G>A

Cases

36

16 (12.9)

11 (17.3)

9(5.8)

0.403

0.028

Controls

55

20 (21.7)

29 (25.7)

6(7.6)

0.372

0.344

29

c.5380+121C>A

Cases

46

40 (40.2)

6 (5.6)

0(0.2)

0.065

0.636

Controls

62

JO (48.8)

10 (12.4)

2 (0.8)

0.113

0.125

30

c.5460T>C

Cases

52

41 (40.1)

10(11.4)

1 (0.5)

0.115

0.676

Controls

72

62 (62.4)

10 (9.3)

0(0.3)

0.069

0.526

32

c.5739-4del9+T

Cases

54

51 (49.1)

1 (4.9)

2(0.0)

0.04

<0.001

Controls

63

60 (60.0)

3 (2.9)

0 (0.0)

0.024

0.846

33

c.5868C>T

Cases

53

51 (49.3)

0 (3.7)

2 (0.0)

0.038

<0.001

Controls

67

67(67.0)

0 (0.0)

0 (0.0)

0.000

-

34

c.6394T>G

Cases

54

53 (52.9)

1 (1.1)

0(0.0)

0.009

0.945

Controls

66

66 (66.0)

0 (0.0)

0 (0.0)

0.000

-

37

c.7041+8G>A

Cases

53

52(52.1)

1 (0.9)

0 (0.0)

0.009

0.945

Controls

70

65 (63.2)

3 (6.6)

2(0.2)

0.050

<0.001

39

c.7274G>A

Cases

51

38(37.2)

11 (12.8)

2 (1.0)

0.147

0.317

Controls

70

39(40.9)

29 (25.2)

2(3.9)

0.236

0.210

40

c.7875A>G

Cases

50

40(38.5)

8 (11.0)

2 (0.5)

0.120

0.086

Controls

63

45 (45.4)

17 (16.1)

1 (1.5)

0.151

0.670

41

c.7932+104T>C

Cases

51

20 (17.0)

19 (24.9)

12 (9.1)

0.422

0.009

Controls

53

19 (18.7)

25 (25.6)

9(8.7)

0.406

0.874