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Table 2 Novel, deleterious variants detected in breast cancer-affected cases*

From: Family-specific, novel, deleterious germline variants provide a rich resource to identify genetic predispositions for BRCAx familial breast cancer

Family

Total (%)

Individual (%)

Shared**(%)

Family 1

   

 1

37

35

2

 2

26

26

0

 3

25

15

10

 4

48

39

9

 6

29

17

12

 7

12

6

6

 8

14

6

8

Subtotal

143 (199)

123 (86)

20 (14)

Family 2

   

 1

22

13

9

 2

15

5

10

 3

21

9

12

 4

21

12

9

 5

16

8

8

 6

8

2

6

Subtotal

66 (100)

47 (71)

19 (29)

Family 3

   

 1

39

13

26

 2

48

27

21

 4

21

12

9

 5

32

12

20

 6

41

19

22

Subtotal

128 (100)

83 (65)

45 (35)

Total

337 (100)

253 (75)

84 (25)

Probands

   

 1

35

10

25

 2

58

22

36

 3

74

28

46

 4

77

49

28

 5

70

28

42

 6

41

16

25

 7

31

24

7

 8

43

27

16

 9

51

19

32

 10

61

30

31

 11

70

35

35

 12

51

12

39

 13

55

15

40

 14

60

30

30

 15

51

31

20

 16

41

31

10

 17

32

18

14

 18

57

25

32

 19

58

18

40

 20

47

23

24

 21

33

25

8

 22

34

22

12

Total

689 (100)

568 (82)

121 (18)

Per proband

30

26

6

  1. *The counts in subtotal and total are the unique number of variants.
  2. **Shared with family members in the families, or shared with other probands.