BRCA Mutation Prevalence Tables (Observations)

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

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Download a PDF version of the Mutation Prevalence Tables (Observations)

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.

72/2547

154/3396

295/3383

87/1547

93/973

420/3431

Breast cancer > 50

61/2082

121/2292

142/1248

61/956

29/238

166/1042

Breast cancer <50

597/8809

789/4990

842/2795

319/1888

108/396

904/2309

Male Breast Cancer

37/289

22/101

18/43

6/30

2/5

13/21

Ovarian cancer at any age, no breast cancer

99/1129

111/481

99/234

127/601

75/226

230/495

Breast cancer >50 and ovarian cancer at any age

53/301

30/115

24/52

23/76

12/26

42/70

Breast cancer <50 and ovarian cancer at any age

75/192

55/102

41/61

33/53

17/24

79/100

† 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

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

125/1814

261/1908

219/1101

179/1149

94/398

367/1336

Breast cancer > 50

64/1443

56/618

25/221

35/221

8/40

37/186

Breast cancer <50

245/2037

172/711

136/355

119/307

29/49

146/284

Male Breast Cancer

16/107

8/26

0/4

6/15

3/3

7/10

Ovarian cancer at any age, no breast cancer

95/428

34/92

20/33

50/119

16/37

60/83

Breast cancer >50 and ovarian cancer at any age

23/78

9/14

4/8

6/12

2/2

7/11

Breast cancer <50 and ovarian cancer at any age

27/38

16/18

4/5

10/11

1/1

9/12

† 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

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A genetic test for hereditary breast and ovarian cancer