Health Library Should I Have a Gene Test for Breast and Ovarian Cancer?From Healthwise

This information will help you understand your choices, whether you share in the decision-making process or rely on your doctor's recommendation.

A breast cancer gene test can help women find out if they have inherited a gene change that can make them much more likely to get breast or ovarian cancer. The test looks for changes, or mutations, in two genes that are related to breast and ovarian cancer. The two genes are called BRCA1 and BRCA2 (BRCA stands for BReast CAncer). Changes in these BRCA (say "BRAH-kuh") genes are rare, but having one greatly increases your chances of getting breast and ovarian cancer.

Most women do not need this test. It is only recommended for women who have a strong family history of breast or ovarian cancer. You need to find out if you have a strong family history before you think about having a gene test.

Key points in making your decision

Consider the following when making your decision:

• Most women with a family history of breast or ovarian cancer—even a strong family history—do not have BRCA gene changes. But if you have a gene change, your risk is even higher than if you had a family history without gene changes.¹
• Not everyone who inherits a BRCA gene change will get cancer.
• Both men and women can inherit a BRCA gene change and pass it on to their children.
• A BRCA gene test can be one thing you consider when deciding what steps you need to take to lower your chances of getting cancer. Depending on how high your chances of getting cancer are, those steps may include having checkups more often, taking medicine, or having your breasts and/or ovaries removed.
• The test itself is simple. It involves taking a small sample of your blood and sending it to a special lab. But the results—whether positive or negative—could have a big effect on your life. So before you have the test, your doctor will have you talk to an expert called a genetic counselor. This expert can help you understand your chances of getting breast cancer and ovarian cancer, help you decide whether to be tested, and help you make good decisions after the test.
• Genetic testing can cost thousands of dollars. Your health insurance may not cover the cost.

How do you know if you have a strong family history of breast or ovarian cancer?

Your doctor will ask questions about you and your health and about your family's health to see how strong your family history is. If you are considering having a gene test, your doctor will send you to a genetic counselor. This expert will help you understand your chances of getting cancer and help you decide whether to be tested.

Jewish women are more likely to be BRCA gene carriers. Some experts recommend gene tests for women who are Ashkenazi Jews (Jews whose ancestors came from Eastern Europe) if they have one or both of the following:²

• Any first-degree relative with breast or ovarian cancer. First-degree relatives are parents, sisters and brothers, and children.
• Two second-degree relatives on the same side of the family with breast or ovarian cancer. Second-degree relatives are aunts and uncles, nieces and nephews, and grandparents.

If you are not Jewish, some experts recommend a gene test if you have one or more of the following:²

• Two first-degree relatives with breast cancer, one of whom was diagnosed before age 50
• Three or more first- or second-degree relatives with breast cancer, diagnosed at any age
• Both breast and ovarian cancer in the family
• A first-degree relative with cancer in both breasts
• Two or more relatives with ovarian cancer
• One relative with both breast and ovarian cancer
• A male relative with breast cancer

When you and your doctor or counselor have looked at the details of your family history, you will have an idea of how high your risk is. That will help you decide whether to have a BRCA gene test.

What are the risks of having a BRCA test?

• The test result won't give you a clear action plan. If your test result is abnormal (called positive), it means BRCA gene changes are present. You will have to think about your options and decide what to do. This can be a much harder decision than deciding whether to have the test.
• BRCA gene testing can cause a lot of emotions.
• If you test positive, you may feel depressed, afraid, or very worried.
• If you test negative, you may have a false sense of security. You may not get regular checkups and tests that help find cancer at an early stage. A negative BRCA test does not mean that you won't get breast or ovarian cancer.
• If you test negative and someone else in your family has breast cancer or tests positive, you may feel guilty.
• You may worry about how the test results will affect your relationships. If you test positive, you would have to decide if you would tell other family members, who would then have to decide whether to be tested.
• Some people worry that a positive test would show up on medical records and affect their ability to get medical insurance or life insurance, or to get a job.³

If you have a family member who has breast or ovarian cancer, think about asking that family member to have a gene test first. If your relative's test shows that she has a changed BRCA gene, that specific change is called a "known mutation." You and other family members can then be tested for that specific gene change.

What can you do if your test result is positive?

If you test positive for a BRCA gene change, you will face hard decisions about what you should do next. To lower your chances of getting cancer, your choices are:

• Get regular checkups 2 to 4 times a year and a mammogram or other imaging test once a year. Be sure to tell your doctor if you notice anything unusual in your breast.
• Have surgery to remove your breasts. Studies show that this surgery can lower your chance of getting breast cancer by 90%.⁴
• Have surgery to remove your ovaries. After this surgery you will not be able to get pregnant, but studies show that this surgery may lower your chances of getting breast cancer. It may also lower your chances of getting ovarian cancer by more than 95%.^{5, 6, 7}
• Take medicine. Tamoxifen is a drug that is often given to women who have been treated for breast cancer to help keep the cancer from returning. Not enough studies have been done to show if this drug lowers the chances of breast cancer in women with BRCA changes. Another drug, raloxifene, is also being studied for lowering the risk of breast cancer.
• Take birth control pills to lower the risk of ovarian cancer.

  What should I do if I'm at high risk for breast cancer?

  Should I have my ovaries removed to prevent ovarian cancer?

If you need more information, see the topic Breast Cancer or Ovarian Cancer.

Your choices are:

• Have a BRCA gene test.
• Don't have the test.

The decision whether to have a BRCA gene test takes into account your personal feelings and the medical facts.

These personal stories may help you make your decision.

Use this worksheet to help you make your decision. After completing it, you should have a better idea of how you feel about getting a gene test for breast and ovarian cancer. Discuss the worksheet with your doctor.

Circle the answer that best applies to you.

*NA=Not applicable

Use the following space to list any other important concerns you have about this decision.

What is your overall impression?

Your answers in the above worksheet are meant to give you a general idea of where you stand on this decision. You may have one overriding reason to have or not have a BRCA gene test.

Check the box below that represents your overall impression about your decision.

Return to the topic Breast Cancer or Ovarian Cancer.

Organizations

Citations

1. Armstrong K, et al. (2000). Assessing the risk of breast cancer. New England Journal of Medicine, 342(8): 564–570.

2. U.S. Preventive Services Task Force (2005). Genetic risk assessment and BRCA mutation testing for breast and ovarian cancer susceptibility: Recommendation statement. Annals of Internal Medicine, 143(5): 355–361.

3. National Cancer Institute (2002). Genetic testing for BRCA1 and BRCA2: It's your choice. Available online: http://www.cancer.gov/cancertopics/factsheet/Risk/BRCA.

4. Morrow M, Gradishar W (2002). Breast cancer. BMJ, 324(7334): 410–414.

5. Wooster R, Weber BL (2003). Breast and ovarian cancer. New England Journal of Medicine, 348(23): 2339–2347.

6. Kauff ND, et al. (2002). Risk-reducing salpingo-oophorectomy in women with a BRCA1 or BRCA2 mutation. New England Journal of Medicine, 346(21): 1609–1615.

7. Rebbeck TR, et al. (2002). Prophylactic oophorectomy in carriers of BRCA1 or BRCA2 mutations. New England Journal of Medicine, 346(21): 1616–1622.

Other Works Consulted

• Isaacs C, et al. (2004). Evaluation and management of women with a strong family history. In JR Harris et al., eds., Diseases of the Breast, 3rd ed., pp. 315–345. Philadelphia: Lippincott Williams and Wilkins.

Author:	Shannon Erstad, MBA/MPH	Last Updated: July 10, 2007
Medical Review:	Anne C. Poinier, MD - Internal Medicine Ross Berkowitz, MD - Obstetrics and Gynecology
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