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I’ve heard that prophylactic mastectomy (surgical removal of the breasts) is the best way for high-risk women to prevent breast cancer, but it seems so drastic. I also know some women have had prophylactic removal of their ovaries. How greatly do these procedures reduce risk?

Studies suggest that prophylactic mastectomy affords the greatest protection against breast cancer, reducing risk by as much as 90 percent. However, there are disadvantages to be considered, such as the pain and inconvenience of breast removal and potential reconstruction, the scars that can result, and the fact that reconstructed breasts have no sensation and cannot be used to breastfeed. You need to weigh these concerns carefully and arrive at the decision that is right for you. Some women simply are not interested in this surgery, despite being at high-risk for breast cancer.

Women who have inherited risk for ovarian cancer due to a BRCA gene can consider prophylactic oophorectomy, or removal of ovaries. Studies have shown that this procedure can dramatically lower ovarian cancer risk. Because screening for ovarian cancer is not nearly as effective as screening for breast cancer, most centers encourage prophylactic oophorectomy after childbearing is completed and after age 35. There is a very small remaining risk for primary peritoneal carcinoma, an ovarian cancer-like disease that develops in the lining of the abdominal cavity.

Another benefit of prophylactic oophorectomy is that it has been shown to reduce breast cancer risk by at least 50 percent in women who are still pre-menopausal. This reduction occurs because removing the ovaries takes away the body’s main source of the female hormone estrogen, which can fuel breast cancer development. Unlike mastectomy, this surgery preserves the body’s outward appearance, but it also causes menopause in those who have not reached this stage of life already. You could experience sexual side effects such as decreased sex drive and pain during intercourse due to dryness, as well as other symptoms ranging from hot flashes, mood swings, and depression to joint pain and insomnia. There are some long-term health risks as well.

To help with these side effects, some women, especially those who have not had a prior breast cancer diagnosis, elect to take short-term hormone replacement therapy (HRT) until about age 45. Studies suggest that these women still benefit from a reduction in breast cancer risk, since HRT replaces only a fraction of the hormones that the ovaries normally produce. You need to discuss these issues carefully with a provider who has expertise in cancer genetics, so that appropriate decisions can be made for your situation.
Reviewed by Jill Stopfer, MS

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How is genetic testing done?

The test involves giving a small sample of blood that is tested in a lab for the BRCA mutations. Results are generally available in about three to four weeks. You should receive them from your doctor and/or genetic counselor through either a scheduled telephone or in-person appointment, so that all the ramifications of the results for your personal situation can be discussed.
The results are most meaningful if a BRCA mutation has already been confirmed in a relative who had cancer. If at all possible, a sample of his or her blood or tissue should be tested first.
Reviewed by Jill Stopfer, MS

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If I do have a BRCA mutation, how does my risk for breast cancer compare to that of an average woman? Am I at risk for any other health conditions?

If you have a BRCA mutation, your lifetime risk of breast cancer ranges from 50 to 85 percent, versus 13 percent for an “average risk” woman. Your risk of ovarian cancer is higher as well, ranging anywhere from 16 to 60 percent, versus just 1-2 percent for the average woman. (The range is due to different findings from different studies, as well as the fact that BRCA1 and BRCA2 are associated with different levels of risk.) In addition, if you have a BRCA mutation, you are more likely to develop these cancers before age 50.

Your genetic counselor can help you better understand your individual level of risk.
Reviewed by Jill Stopfer, MS

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What does a formal risk assessment involve?

This process typically involves working through the following series of steps with a genetic counselor:

  • Education about breast and ovarian cancer and the factors that increase and decrease risk
  • Analysis of your family tree, showing the pattern of cancer in your family—who was affected and their ages at diagnosis
  • Education and counseling about genetic testing options (a blood test for inherited mutations in the genes known as BRCA1 and BRCA2)
  • Genetic testing, if appropriate
  • Discussion of the test results
  • Further counseling about special screening and risk-reduction options, if you are found to be high risk.

Reviewed by Jill Stopfer, MS

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I have a couple of relatives who have been diagnosed with breast cancer. Does that automatically mean I am at high risk?

Not necessarily. It really depends on the pattern of cancer in your family. Your doctor may suspect Hereditary Breast and Ovarian Cancer Syndrome—the name given to inherited risk for these diseases—based on the following criteria:

  • Two or more family members on the same side (your mother’s or father’s) have been diagnosed with breast and/or ovarian cancer.
  • One or more cases of these cancers were diagnosed before age 50. (Because most cancers develop later in life, younger diagnosis suggests the possibility of inherited risk.)
  • Your affected relative(s) is your first-degree relation (mother, sister, daughter).
  • Any relative had cancer more than once, had breast cancer in both breasts, or has had both breast and ovarian cancer.
  • You are of Eastern European Jewish ancestry and have had breast or ovarian cancer, or a history of breast or ovarian cancer in close relatives.
  • A close relative has had male breast cancer.

To fully understand whether or not you might be “high risk,” you need to go through a formal risk assessment process with a genetic counselor, a health professional specially trained to provide information and advice about inherited conditions.

Reviewed by Jill Stopfer, MS