The Prevalence of Deleterious Mutations in BRCA1 and BRCA2
in Individuals of Ashkenazi Ancestry

Family History (Includes at least one first or second degree relative)

Patient's History

No breast cancer <50 or ovarian cancer in any relative. †

Breast cancer <50 in one relative; no ovarian cancer in any relative.

Breast cancer <50 in more than one relative; no ovarian cancer in any relative.

Ovarian cancer at any age in one relative; no breast cancer <50 in any relative.

Ovarian cancer in more than one relative; no breast cancer <50 in any relative.

Breast cancer <50 and ovarian cancer at any age. ††

No breast cancer or ovarian cancer at any age

4.9%

14.1%

19.3%

14.1%

26.3%

29.5%

Breast cancer > 50

4.2%

8.2%

12.2%

12.9%

31.6% *

19.5%

Breast cancer <50

13.7%

24.3%

39.9%

42.2%

66.7%

56.5%

Male Breast Cancer

10.3%

30.0% *

0.0% *

0.0% *

100.0% *

75.0% *

Ovarian cancer at any age, no breast cancer

26.8%

30.0%

64.3% *

42.6%

55.0%

76.7%

Breast cancer >50 and ovarian cancer at any age

24.2%

40.0% *

60.0% *

37.5% *

100.0% *

71.4% *

Breast cancer <50 and ovarian cancer at any age

78.3%

81.8% *

66.7% *

50.0% *

None Tested

83.3% *

† May include families with breast cancer >50 (in women or men).
†† Includes family members with either or both diagnoses.
Table 2 includes patients tested only for three prevalent founder mutations (Multisite 3) as well as patients tested by full sequence analysis. Patients that received Multisite 3 analysis for a known family mutation are included in this table.
Number of observations in table 2 is 6864.
*N<20