Table 2 Details of BRCA1 large genomic alterations identified in this study

Population-based

Family history (150)

Deletion exon 5

38 and 44

3

Breast, sister (42)

Ovarian, paternal aunt (44)

Ovarian, paternal grandmother (60)

Deletion exon 1A-24

39 and 49

3

Breast, sister (53)

Ovarian, sister (40)

Ovarian, sister (50)

Duplication exon 13^b

39 and 39

3

Breast, sister (33)

Breast, mother (49)

Breast, maternal grandmother (62)

Breast, paternal grandmother (49)

Tumour morphology (96)

Deletion exon 20

31 and 35

7

Breast, paternal grandmother (n.d.)

Deletion exon 1A-23^c

33

5

Breast, paternal aunt (71)

Duplication exon 13^b

36

9

Breast, mother (50)

Ovarian, mother (68)

Ovarian, paternal aunt (55)

Family history and tumour morphology (37)

Deletion exon 17

31

7

Breast, maternal aunt (34)

Ovarian, maternal aunt (35)

Deletion exon 1A-2^c

29

7

Breast, maternal aunt (30)

Breast, paternal aunt (52)

Ovarian, mother (56)

Deletion exon 1A-17

36 and 38

8

Breast, mother (53)

Ovarian, mother (62)

Breast, maternal grandmother (84)

Ovarian, maternal grandmother (n.d.)

Deletion exon 1A-23

34

7

Breast, mother (28)

Breast, maternal grandmother (45)

Clinic-based

Family history (184)

Deletion exon 22

35

7

Breast, paternal aunt (23 and 24)

Ovarian, paternal aunt (49)

Deletion exons 14-20

36

n.d.

Breast, sister (35)

Breast, mother (43)

Ovarian, maternal grandmother (n.d.)

Total

467

12