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Updated: August 2009

Genetic Testing and Prophylactic Mastectomy

In the mid 1990's, scientists identified two genetic mutations that harbor an increased risk for developing breast and ovarian cancer. These mutations, known as BRCA1 and BRCA2, can be found in both men and women. For people that carry a BRCA gene mutation, the increased lifetime risk for developing breast cancer has been reported to be as high as 85%. The increased risk for ovarian cancer has been reported to be as high as 60%. A blood test is used to determine whether or not a patient carries one of these mutations.

Risk factors for having a gene mutation include:

  • Having another family member that has tested positive for a BRCA gene mutation
  • Having had early onset breast cancer (diagnosed before age 45)
  • A family history of early onset breast cancer
  • A family history of ovarian cancer
  • Being of Eastern European or Ashkenazi Jewish heritage

Your breast surgeon or gynecologist can help you determine if you are considered high risk, and if you could benefit from genetic testing. Some patients find the decisions surrounding genetic testing to be emotionally overwhelming. Your doctor or genetic counselor should inform you of the risks associated with testing either positive or negative for a BRCA gene mutation. A negative test result does not entirely eliminate the chance of developing breast cancer. Also, in some cases, patients may have a strong family history, having multiple family members diagnosed with breast cancer, but may still test negative for both BRCA gene mutations. In fact, there are still mutations that have yet to be identified by scientists.

Patients should also be counseled as to the non-medical issues associated with testing positive for a BRCA gene mutation. Health insurance carriers in the United States are prohibited from discriminating against patients that test positive for a BRCA gene mutation; however, life insurance carriers have no such restrictions. This may have less of an impact on a patient already diagnosed with breast cancer, but may pose a risk for family members that want to get tested.

Patients that have already been diagnosed with breast cancer may wish to have genetic testing done prior to making any final surgical decisions. High risk patients that have not been diagnosed with breast cancer may undergo the testing to help determine a preventative course of action. Should the patient carry one of the BRCA gene mutations, bilateral prophylactic mastectomies may be recommended. If a patient chooses not to have preventative surgery, screening through MRI, ultrasound, and mammography will usually be required every three to six months. Patients who do not have a cancer diagnosis but carry a BRCA gene mutation can achieve a greater than 90% reduction in breast cancer risk by having prophylactic mastectomies.

Although the decision is personal, many women find peace of mind in having preventative surgery because the risk of developing cancer is so great when a BRCA mutation is present. Frequent surveillance, numerous biopsies, and fear of developing cancer can be eliminated with prophylactic mastectomies. Now, with the option to have immediate reconstruction, patients can wake up from surgery with a breast shape, and can usually finish staged reconstruction within several months.

The availability of quality breast reconstruction can help make the difficult decision to proceed with prophylactic mastectomies much easier. To hear one woman’s story about her decision to have bilateral prophylactic mastectomies and reconstruction, please read about Kristina in our Personal Stories section.

Written and edited by our medical board