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BRCA1 or BRCA2 Genetic Mutation

Medical science has made startling leaps in understanding genetics in the past 10 years. For women who have a strong family incidence of breast cancer, this science has proved useful by identifying the BRCA1 or BRCA2 gene. Women who test positive for a mutation of one of these genes have a greatly increased chance of developing breast and ovarian cancer during their lifetimes. In fact, five to ten percent of women diagnosed with breast cancer will be carriers of one of these mutations.

Testing positive for this genetic mutation is not the same as a cancer diagnosis. On the contrary, this information is helpful for taking decisive steps to limit your increased risk of developing cancer. For many women this includes the proactive, aggressive steps of:

  • Preventive/prophylactic mastectomies
  • Removal of the ovaries, also known as an oopherectomy (Women who test positive for these genetic mutations often have a higher risk of developing ovarian cancer.)

How do I know if I should be tested for BRCA1 or BRCA2?

You should consider carefully whether to be tested for the BRCA1 or BRCA2 genetic mutation and ask yourself what you will do if you test positive. Are you ready and able to take proactive, aggressive steps? Will the information cause too much anxiety for both you and your loved ones? These are really important questions that you must work through before you undergo the testing.

The Johns Hopkins Breast Center offers genetic testing and other forms of breast cancer risk assessment. We encourage a serious discussion with a genetic counselor and a medical oncologist who specializes in high risk women, as well as your loved ones. Risk assessment and counseling are prerequisites for genetic testing. The test is a simple blood test and results take approximately one month.

If I do test positive, how do I decide whether to have a mastectomy and possible removal of my ovaries?

MYTH: If I tested positive for the BRCA1 or BRCA2 gene mutation, I must have a bilateral mastectomy. Get the facts.

You should not feel rushed to make a decision about such a sensitive issue. We encourage patients who have tested positive for a BRCA1 or BRCA2 genetic mutation to take time to gather information and discuss all options with their doctors and family. Before making a decision, many women choose to join a high-risk breast clinic, like the Johns Hopkins Breast and Ovarian Surveillance Service (BOSS) program.

I have tested positive for a genetic mutation. Should my daughters be tested?

At our Breast Center, we do not encourage testing of children. In fact, we strongly believe that women should be of age so they can participate in the decision-making process that goes into testing and the possible choices with knowing one is a carrier of the mutation. We do recommend that women with a strong family history of breast cancer be followed by experienced breast specialists at a high-risk breast clinic so they can create a plan for screening and testing.

Learn more about genetic testing for breast cancer at Johns Hopkins Medicine.