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Prevalence Tables


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BRCA Mutation Prevalence Tables (Percentages)

The following tables, which will be updated periodically, represent observations of deleterious mutations by Myriad Genetic Laboratories through its clinical testing service. Data obtained through testing performed under specific research protocols is not included here. The information included in these tables was obtained from a routine laboratory requisition form and has not been independently verified by Myriad Genetic Laboratories. Patients for whom relevant information was not provided were not included in this tabulation. Table 2 includes patients tested only for three prevalent founder mutations as well as patients tested by full sequence analysis. The method used to develop the prevalence tables has been published in, Frank TS et al: Clinical Characteristics of Individuals With Germline Mutations in BRCA1 and BRCA2: Analysis of 10,000 Individuals.15 Please contact clinresearch@myriad.com or call 1-800-469-7423 with any questions or comments.

Data Last Updated: Spring 2006

View numbers of observations
Download a PDF version of the Mutation Prevalence Tables (Percentages)

1. The Prevalence of Deleterious Mutations in BRCA1 and BRCA2 (Excludes 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.

2.8%

4.5%

8.7%

5.6%

9.6%

12.2%

Breast cancer > 50

2.9%

5.3%

11.4%

6.4%

12.2%

15.9%

Breast cancer <50

6.8%

15.8%

30.1%

16.9%

27.3%

39.2%

Male Breast Cancer

12.8%

21.8%

41.9%

20.0%

40.0%*

61.9%

Ovarian cancer at any age, no breast cancer

8.8%

23.1%

42.3%

21.1%

33.2%

46.5%

Breast cancer >50 and ovarian cancer at any age

17.6%

26.1%

46.2%

30.3%

46.2%

60.0%

Breast cancer <50 and ovarian cancer at any age

39.1%

53.9%

67.2%

66.0%

70.8%

79.0%

† May include families with breast cancer >50 (in women or men).
†† Includes family members with either or both diagnoses.

Number of observations in Table 1 is 49,149
*N<20

2. 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

6.9%

13.7%

19.9%

15.6%

23.6%

27.5%

Breast cancer > 50

4.4%

9.4%

11.3%

15.8%

20.0%

19.9%

Breast cancer <50

12.0%

24.2%

38.3%

38.8%

59.2%

51.4%

Male Breast Cancer

15.0%

30.8%

0.0%*

40.0%*

100.0%*

70.0%*

Ovarian cancer at any age, no breast cancer

22.2%

37.0%

60.6%

42.0%

43.2%

72.3%

Breast cancer >50 and ovarian cancer at any age

29.5%

64.3%*

50.0%*

50.0%*

100.0%*

63.6%*

Breast cancer <50 and ovarian cancer at any age

71.1%

88.9%*

80.0%*

90.9%*

100.0%*

75.0%*

† May include families with breast cancer >50 (in women or men).
†† Includes family members with either or both diagnoses.
Table 2 includes individuals that tested for MultiSite3, which may have been for a known mutation in the family.

Number of observations in table 2 is 15,345
*N<20

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