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I have young daughters. Is there anything they should be doing at this point?

No matter how young your daughters are, you can start encouraging good habits such as exercising regularly, maintaining a healthy weight, and eating a healthful diet. Once they become teenagers or young adults, you may wish to let them know about their family history and introduce the idea of genetic counseling and testing. You and your daughters can work with their doctors to determine what’s best in their particular situation.

At the very least, doctors generally recommend regular clinical breast exams starting at age 18. They also can instruct your daughters on how to perform monthly breast self-exams.
Young women who have inherited a BRCA mutation are advised to start having annual mammograms and MRIs of the breast by age 25. One advantage to having genetic testing information is that young women who test negative for the BRCA mutation do not need to start screening so early. In the absence of genetic testing information, recommendations need to be tailored to the individual, but screening typically begins in the late 20s or early 30s—at least before age 40, which is the usual recommendation for women at average risk.

Some doctors also may prescribe oral contraceptives, which have been shown to reduce ovarian cancer risk. However, since long-term oral contraceptive use may slightly increase breast cancer risk, the pros and cons of this approach need to be discussed on an individual basis.

You can help your daughters by staying up-to-date on the latest research and medical recommendations for women who are considered high-risk. As they grow older, you will be able to help them understand the many options they have.
Reviewed by Jill Stopfer, MS

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As a woman who is considered high risk, I assume I need to have more than an annual mammogram if I don’t elect to have surgery. What is recommended for women like me?

Doctors generally recommend close surveillance, which is the use of screening tests in an attempt to find cancer at an earlier, and often more curable, stage. Recommendations can vary somewhat depending on your situation, but the general guidelines for women at high risk for breast cancer may include:

  • Breast self-exam (BSE) training and regular monthly BSE starting at age 18
  • Clinical breast exam (physical examination by a health professional) every six months, starting at age 25
  • Annual mammogram and, in some cases, breast MRI (magnetic resonance imaging test). The age and frequency of screening is based on your personal risk assessment.

Although mammography is the standard screening tool for breast cancer, new research suggests that MRI actually may be a better screening tool for high-risk women. One drawback of MRI is that it appears to be more likely to return a false positive result—that is, to detect an apparent abnormality that leads to further testing, only to find it is not breast cancer. However, many experts are now recommending that high-risk women opt for breast cancer screening done with MRI.
You may wish to discuss this possibility with your doctor and find a facility with the expertise and equipment needed to screen for breast cancer in this way. You also should ask if he or she recommends close surveillance for ovarian cancer, which requires having regular blood and imaging tests.

Reviewed by Jill Stopfer, MS

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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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I don’t want my health insurance company to know I’m at high risk for breast cancer. Is there any way I can keep this confidential?

This is a common concern among individuals who are considering genetic testing. Fortunately, reports of discrimination based on cancer risk are rare. Most states have laws preventing insurance companies and employers from discriminating based on hereditary risk for a disease. Many also have laws protecting the privacy of genetic information. You can research your state’s laws through the National Conference of State Legislatures Web site. The Genetic Information Nondiscrimination Act (GINA) of 2008, a new Federal law, prohibits discrimination in health coverage and employment based on genetic information. You can get more information from the National Institutes of Health National Human Genome Research Institute.

If you are concerned about issues of privacy and discrimination, talk to your genetic counselor. He or she can help you understand the potential risks and learn about how other people have dealt with the same concerns.
Reviewed by Jill Stopfer, MS