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Prevalence Tables

The tables below represent observations of deleterious mutations by Myriad Genetic Laboratories, Inc. through its clinical testing service, reflective of the current test offering. Data obtained through testing performed under specific research protocols are 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. 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. Journal of Clinical Oncology.  20:1480-1490, 2002. Please call 800-469-7423 with any questions or comments. BRCA1 and BRCA2 Prevalence Tables Table 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 1 relative; no ovarian cancer in any relative Breast Cancer < 50 in more than 1relative; no ovarian cancer in any relative Ovarian cancer at any age in 1 relative; no breast cancer < 50 in any relative Ovarian cancer in more than 1 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 1.5% 2.6% 5.6% 3.0% 5.3% 7.2%
Breast cancer ≥ 50 2.2% 3.8% 8.0% 4.9% 9.5% 10.6%
Breast cancer < 50 4.7% 10.4% 21.2% 10.3% 21.9% 26.6%
Male breast cancer 6.9% 17.4% 36.6% 15.9% *33.3% 28.3%
Ovarian cancer at any age, no breast cancer 7.7% 14.3% 27.4% 14.7% 22.7% 34.4%
Breast cancer ≥ 50 and ovarian cancer at any age 12.1% 23.6% 50.0% 23.6% 44.2% 39.4%
Breast cancer < 50 and ovarian cancer at any age 26.3% 40.0% 64.5% 41.2% 45.5% 57.4%
~May include families with breast cancer >50(in women or men) ~~Includes family members with either or both diagnoses *N<20 In Situ data is included in the "affected" categories Number of observations in Table 2 is 26,015 Table 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 1 relative; no ovarian cancer in any relative Breast Cancer < 50 in more than 1relative; no ovarian cancer in any relative Ovarian cancer at any age in 1 relative; no breast cancer < 50 in any relative Ovarian cancer in more than 1 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 8.2% 13.0% 16.4% 12.7% 22.3% 22.9%
Breast cancer ≥ 50 3.3% 7.1% 10.8% 13.2% 13.6% 16.7%
Breast cancer < 50 7.9% 17.5% 26.9% 18.1% 20.0% 33.0%
Male breast cancer 13.5% 26.8% *46.2% *21.1% *66.7% *55.6%
Ovarian cancer at any age, no breast cancer 16.2% 26.4% 17.4% 26.2% 57.1% 57.8%
Breast cancer ≥ 50 and ovarian cancer at any age 20.5% 18.2% *30.0% *31.3% *100.0% *55.6%
Breast cancer < 50 and ovarian cancer at any age 42.1% *63.2% *85.7% *62.5% *100.0% *36.4%

~May include families with breast cancer ≥ 50 (in women or men) ~~Includes family members with either or both diagnoses *N < 20 In Situ data is now included in the "affected" categories

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