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Table 2 Characteristics of the families used in the estimation of ATM penetrance

From: Rare variants in the ATMgene and risk of breast cancer

Family ID

Variant

Type

Total BC

BC < 50

ATM+ (obligates)

ATM-

No. of Individuals

O011

c.170G > A

TSJ

3

2

1

0

21

O024

c.1924G > T

TSJ

3

2

2

0

10

K011

c.3802delG

TSJ

2

2

2

1

24

N014

c.3802delG

TSJ

2

1

1

1

24

A015

c.3802delG

TSJ

1

1

0

0

10

O035

c.3802delG

TSJ

4

0

0

0

16

K021

c.5623C > T

TSJ

6

2

3

11

159

N024

c.6997dupA

TSJ

4

0

0

2

15

K031,2,3

c.7271T > G

M

5

3

9

7

82

K045

c.7271T > G

M

9

6

7

22

162

K051

c.7271T > G

M

3

2

1

1

21

K061

c.7271T > G

M

8

5

0

13

72

K071

c.7271T > G

M

6

4

3

2

38

K085

c.7271T > G

M

4

2

3 (3)

4

66

K091

c.7271T > G

M

5

4

2

1

36

N032

c.7271T > G

M

3

2

0

0

16

O045

c.7271T > G

M

3

1

0 (1)

0

18

O052

c.7271T > G

M

1

1

0

0

17

O065

c.7271T > G

M

2

1

0

0

18

O072

c.7271T > G

M

2

0

0

0

19

O085

c.7271T > G

M

4

1

0

3

31

O092

c.7271T > G

M

5

4

0

0

15

O102

c.7271T > G

M

3

1

0

1

23

N044

c.7831_7835del

TSJ

5

0

1

1

23

K101

c.7886_7890del

TSJ

2

2

0

1

26

O115

c.8734A > G

M

5

1

1

1

26

K111

c.8851-1G > T

TSJ

8

1

7

14

154

Total

  

108

51

43 (4)

86

1142

  1. M, missense variant; TSJ, truncating or splice-site mutation.
  2. 1 Tavtigian et al (2009); 2 Bernstein et al (2006); 3 Chenevix-Trench et al (2002); 4 found by direct sequencing (unpublished data); 5 found by iPLEX, this study.