Category Archives: Frequently Asked Questions

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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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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

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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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I’m not sure I want to know whether or not I have inherited a BRCA mutation. What are the main advantages and disadvantages of going through with genetic counseling and testing?

The main advantage is knowledge. If you know that the breast and/or ovarian cancer in your family is due to a genetic mutation, and you test negative, you no longer have to worry about being high risk. If you test positive, you can take steps to prevent cancer, such as having surgery or taking medications, or try to catch it early through more frequent screenings starting at a younger age.

There are some disadvantages. You may feel excessively anxious after receiving a positive result. You may not want to have surgery, and you may worry that screening and medications offer no guarantees against getting cancer. The genetic testing process also can cause family strife if members disagree on whether or not it is a good idea. Finally, genetic testing results are not always straightforward, sometimes coming back “indeterminate” or uncertain. This is one reason why it is critical to have your testing arranged by someone who has expertise in cancer genetics.

Your doctor and genetic counselor can help you weigh these and other issues carefully before moving ahead. You also can change your mind at any point in the process. Once results are available, for example, you can choose to delay receiving them until you are ready.
Reviewed by Jill Stopfer, MS

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Are the so-called “breast cancer genes” (BRCA1 and BRCA2) the only two that increase breast cancer risk? And are they always inherited on the mother’s side?

You can inherit mutations in the genes known as “BRCA1″ or “BRCA2″ from either your mother’s or your father’s side of the family. Normally, BRCA1 and BRCA2 function as tumor suppressor genes, producing proteins that help repair any damage to your cells’ genetic information and suppress abnormal cell growth. When a BRCA1 or BRCA2 gene has a mutation, or a “misspelling” in the letters of the genetic code, this repair function is usually lost—increasing the risk for breast, ovarian, and some other cancers.

In some families, multiple cases of breast and/or ovarian cancer cannot be traced back to the BRCA1 or BRCA2 genes. Researchers are now searching for other inherited genetic mutations that may be responsible for increased risk.

Regardless of family history, you also may be considered to be at higher-than-average risk for breast cancer if you:

  • Had radiation therapy to the chest for treatment of a past cancer
  • Have had previous breast biopsies (examination of surgically removed tissue under a microscope) that detected atypical hyperplasia (fast-growing cells)
  • Have been diagnosed with ductal carcinoma in situ (DCIS) or lobular carcinoma in situ (LCIS). These conditions are considered to be “pre-cancers” because they stay in place and do not spread to surrounding tissues.

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