Seven Reasons To Test For A BRCA Mutation

By Dr. Kathleen Ruddy

Hereditary breast cancer is relatively uncommon, accounting for approximately 10% of all breast cancer in the United States. Of these women, most will have a mutation in a BRCA gene. Depending on the mutation (BRCA 1 or BRCA 2), the risk for breast cancer is substantially increased (up to 87% lifetime risk) compared to women in the general population (7% lifetime risk.) It is important to identify those women who should be tested for a BRCA mutation so they can be offered more aggressive surveillance and other risk-reduction strategies that can lower their risk of death. Given below are seven indications for testing an individual woman for a BRCA mutation.

1. Personal History of Breast Cancer Before Age 40

Women who are diagnosed with breast cancer before age 40 have an increased risk of carrying a BRCA mutation. BRCA mutations are associated with breast cancer at an early age, most commonly during the premenopausal years. Thus, young women diagnosed with breast cancer should be tested for a BRCA mutation.

2. Personal History of Breast Cancer Before Age 50 in Ashkenazi Jewish Women

Approximately 1% of Ashkenazi Jewish women (predominately from the Middle East and Middle Eastern descent) carry BRCA mutations. Therefore, these women should be tested for BRCA mutations if they are diagnosed with breast cancer before the age of 50.

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The average cumulative risk for breast cancer in women who test positive for the BRCA 1 mutation is 65% by age 70; however, the risk can be as high as 87% if other risk factors are present that increase the risk further, such as multiple pregnancies.

3. Personal History of Early Breast Cancer and One Relative with Early Breast or Ovarian Cancer

BRCA mutations are also associated with an increased risk for ovarian cancer. A women who is diagnosed with breast cancer before the age of 50 and who has at least one first-degree relative (mother or sister) with a history of breast or ovarian cancer before the age of 50 should also be tested for a BRCA mutation.

4. Personal and Multiple Family Histories of Breast or Ovarian Cancer at Any Age

A woman with a history of breast cancer who has two or more relatives on the same side of the family with breast or ovarian cancer should be tested for a BRCA mutation. Whereas BRCA mutations result in early onset breast and ovarian cancer in most cases, some families that carry BRCA mutations may have later onset disease. Thus, women with breast cancer who come from families with multiple members on one side who have been diagnosed with breast and/or ovarian cancer should be tested for a BRCA mutation.

5. Personal History of Ovarian Cancer

Any woman at any age, particularly if she is of Ashkenazi Jewish ancestry, who has been diagnosed with ovarian cancer should be tested for a BRCA mutation. Because women with ovarian cancer are often carriers of BRCA mutations, all such women should be tested so that they can be screened more closely for breast cancer.

6. All Men Diagnosed with Breast Cancer

Male breast cancer is very uncommon, accounting for about 1% of all breast cancer diagnosed in the United States. However, men with breast cancer have an increased chance of carrying a BRCA mutation and, thus, they should be tested because, if positive, they can pass the mutation to their offspring.

7. Relatives of Women and Men Who Carry a BRCA Mutation

Relatives of patients who test positive for a BRCA mutation should be offered genetic counseling to see if they are candidates for BRCA screening.

Most cases of breast cancer in the United States occur in postmenopausal women and are not hereditary. In the 10% of patients who have an hereditary form of breast cancer, most women are found to have a mutation in the BRCA gene. Such women typically come from families where there is a high incidence of breast or ovarian cancer, especially in if it is diagnosed in young women or women of Ashkenazi descent. Men with breast cancer also have an increased risk of carrying a BRCA mutation. Understanding who should be tested for a BRCA mutation allows for closer surveillance and other risk-reduction strategies that can lower the risk for death.

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