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Table 7 Clinical phenotype of families with founder mutations

From: Tracking of the origin of recurrent mutations of the BRCA1 and BRCA2 genes in the North-East of Italy and improved mutation analysis strategy

 

Proband

Family

 

Sexa

BCbage

OCbage

F-BCc

OCc

M-BCc

BRCA1c.676delT

      

BR128

F

41, 51

-

3 (2)

0

0

BR328

F

23

–

3 (1)

1

0

BR384

F

50, 56

–

3 (1)

1

0

BR392

F

30

–

4 (1)

0

0

BR573

F

–

52

1

3 (2)

0

BR613

F

–

53

4 (1)

5 (2)

0

BR704

F

29, 31, 31

–

1 (1)

1

0

BR977

F

58

–

4 (1)

0

0

BR1091

F

23, 29

–

2 (1)

0

0

BR1450

F

42

–

2(1)

2

0

BRCA2 c.7806–2A > G

      

BR6

F

60

–

5 (1)

0

1(1)

BR60

F

45

–

8 (3)

2 (2)

0

BR85

F

41

–

3 (1)

0

0

BR195

M

50

–

5

0

3 (1)

BR243

M

70

–

4

0

1 (1)

BR312

F

47

–

2 (1)

0

1

BR434

F

36

–

4 (3)

3

0

BR594

F

36

–

1 (1)

1

0

BR608

M

67

–

3 (2)

0

1 (1)

BR953

F

39

–

4 (3)

0

1

BR1009

F

36

–

3 (1)

0

0

BR1013d

F

–

–

3

0

0

CFS864

F

–

59

1

1 (1)

0

BR1214

F

38

–

7

0

0

BR1341

F

76

–

2

0

0

BR1267

F

45

–

1bil

0

0

BR1548

F

48

–

5

0

0

BR1481

F

48, 69

61

1

0

2

  1. aF female, M male
  2. b Years at diagnosis of tumors in probands, BC breast cancer, OC ovarian cancer
  3. cNumber of affected cases, including proband; in parentheses the number of carriers, ascertained or inferred, F–BC female breast cancer, M–BC male breast cancer
  4. dHealthy young proband, no affected relatives were alive and available for gene testing