Table 1 Characteristics of families carrying the BRCA2 c.9227G>T.

From: Segregation analysis of the BRCA2 c.9227G>T variant in multiple families suggests a pathogenic role in breast and ovarian cancer predisposition

Family ID

Number of breast cancer cases (age)

Number of ovarian cancer cases (age)

Number of breast cancer phenocopies (age)

Other tumors (age)

BOADICEA

Number of other tested family members

LRa

33

6 (50, 44, 32/40b, 30, 52, 41)

–

–

Kidney (65)

92.2

1

3.44

72

4 (42/46b, 53, 59, 33)

–

1 (60)

–

71.2

1

1.17

139/2102

3 (47, 47, 48)

1 (66)

–

Central nervous system (53)

3.9

2

3.7

219

5 (44, 37, 50c, 50, 65)

1 (57c)

1 (55/55b)

Kidney (63), lung (66)

52.9

3

10.77

716

2 (59c, 24)

1 (53c)

–

–

73.3

3

1.03

873/987

6 (50, 44, 25, 49/58b, 33, 81)

2 (59, 63)

1 (55)d

–

93.2

8

40.61

1339

2 (40, 44)

–

–

–

3.6

1

1.87

1579

2 (31, 56)

–

–

Ampulla of Vater (60)

10.4

4

3.16

2535

3 (45, 45/78b, 43)

–

–

–

20.0

–

–

2848

2 (37, 46)

1 (62)

1 (42)

–

31.5

1

1.13

3336

3 (43c, 60, 46)

1 (55c)

–

Kidney (61), prostate (75)

33.0

1

1.82

3816

2 (55/70b, 50)

1 (68)

–

–

19.0

–

–

4196

1 (43)

1 (66)

–

Prostate (44), thyroid (64)

8.4

–

–

4482

2 (35, 40)

–

–

Pancreas (63)

7.6

–

–

5405

1 (65)

1 (47)

–

–

2.9

–

–

  1. Numbers in bold refer to age at diagnosis in individuals specifically analysed for the c.9227G>T or obliged carries.
  2. aLR likelihood ratio.
  3. bBilateral breast cancer.
  4. cSubjects affected by breast and ovarian cancer.
  5. dLCIS lobular carcinoma in situ.