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What Do I Need to Know about the BRCA Gene?

What do you say to someone who has recently learned that she carries the gene that predisposes her to develop cancer? What do you need to know if you think you might carry the gene yourself? This FAQ poses some of the most commonly asked — and unasked — questions about the BRCA gene.*

Joanna and her boyfriend Jimmy talk after her doctor's appointment.

Joanna and her boyfriend Jimmy talk after her doctor's appointment.

1. My friend has had family members who have died from breast cancer and ovarian cancer, and I'm concerned about her health. I think she should get tested for the BRCA gene. But she shows no signs of wanting to undergo the test. What's the best way to bring this up with her?

The decision to undergo genetic testing is a very personal decision. Watching In the Family with your friend may be a good way to start a conversation about family health histories. The film brings up many issues related to hereditary cancer and can illuminate people about these issues. So perhaps you could invite your friend over to watch In the Family with you and afterward start a discussion about her family health history.

Your friend may also benefit from a discussion with a genetic counselor, which would help make her aware of her options so she is fully informed. She could learn about the availability of testing, and exactly what information a genetic test can and cannot tell her about her risk for cancer. A genetic counselor's primary concern in talking with your friend would be to share information and resources to help her reach decisions that are appropriate for her.

 

2. I know someone who is waiting for the results of her BRCA gene test. How long does it take for results to come back? How can I best support her during this time?

From the date that blood is drawn, it can take several weeks or months for test results to become available. The length of time depends on the tests performed and other factors. Individuals who decide to get tested should check with their doctor or genetic counselor to find out when test results might be available.

The decision to undergo genetic testing was no doubt very difficult. You can help make sure your friend is getting the support she needs, whether through finding support groups (see below), finding information that can help her or simply having fun with her. You might also encourage your friend to speak with a genetic counselor.

 

Martha and LeaLea Hayley

Martha Haley, a three-time breast cancer survivor, with her daughter Alicia.

3. Is the BRCA gene an indicator for any other types of cancer besides breast and ovarian cancer? If you have the BRCA gene, does it mean you may be more susceptible to all cancer?

Women with a BRCA mutation may also have an increased chance of developing colon cancer.

Men with an altered BRCA1 or BRCA2 gene have an increased risk not only of breast cancer (primarily if the alteration is in BRCA2), but also of prostate cancer.

In some men and women, alterations in the BRCA2 gene have also been associated with an increased risk of lymphoma, melanoma, and cancers of the pancreas, gallbladder, bile duct and stomach.

For more information, please visit:

 

4. My friend wants to take the BRCA test, but she doesn't have health insurance. Are there any resources I could refer her to for genetic testing?

There are options for testing without health insurance. Many centers offer genetic testing as part of research studies, and a limited number of research studies cover the cost for genetic testing. The Hanke family, featured throughout In the Family, participated in a research study for BRCA testing through the lab of Mary-Claire King.

A genetic counselor can help determine if you qualify for a financial assistance program to cover the cost of genetic testing. For more information on genetic counseling and how to find a genetic counselor, visit the National Society of Genetic Counselors' website.

Medicare also has new guidelines covering BRCA1 and BRCA2 genetic testing. You can review these guidelines by searching the Medicare Coverage Database.

Creighton University offers genetic testing on a research basis at no charge to patients who are qualified/ approved by their collaborating geneticist. Visit the Creighton University website and contact peggyk [at] creighton.edu (study coordinator) for more information.

Some affiliates of the Susan G. Komen Breast Cancer Foundation fund local programs that provide genetic testing to uninsured or underinsured people.

Some hospitals have social workers or financial assistance counselors who can help explain your options and direct you to resources that provide assistance in paying for medical care. Some hospitals, designated as Hill-Burton facilities, receive money from the federal government. These hospitals must provide a certain amount of free or reduced-cost health services every year to those who cannot pay. Each facility is allowed to decide which type of free or reduced-cost care it will provide, and must publish this information in the newspaper as well as provide a written notice to you upon your request for Hill-Burton assistance.

You can also consider taking part in a clinical trial. Clinical trials are research studies in which people help doctors find ways to improve health and cancer care. Each study tries to answer scientific questions and to find better ways to prevent, diagnose or treat cancer. To find a clinical trial near you, visit the National Cancer Institute website.

For more information, visit:

 

5. I just found out that my friend tested positive. What should I say? How can I help her?

Allow friends their process. Don't necessarily try to cheer them up or rush them into a phase in which they are happy about or grateful for the knowledge. Confronting risk, making decisions and hopefully, eventually finding peace and acceptance can take time. Validate their concerns by listening. Don't minimize or dismiss their feelings and don't heighten their concerns by sharing horror stories. Offer to accompany them to doctor appointments. Encourage them to take medical questions to their genetic counselor and to surround themselves with experts who are trained in risk management specifically of women who are BRCA positive. And, of course, make sure that they know that they can get peer support and credible information from FORCE and other support groups in their community.

There are many support groups for women and families affected by BRCA mutations, hereditary breast and ovarian cancer, and other types of cancer. To find a support group right for you, please visit:

  • FORCE: Facing Our Risk of Cancer Empowered, a national nonprofit organization with more than 8,000 members, is devoted to providing support for the high-risk community and improving the lives of individuals and families affected by hereditary breast and ovarian cancer. There are outreach and support groups in almost every state as well as a comprehensive online network of discussion boards.

  • Bright Pink is dedicated to providing support and resources for young women at high risk for hereditary breast and ovarian cancer. With fundraisers and special events in many cities, Bright Pink brings together strong young women committed to being proactive with breast and ovarian health.

  • Imerman Angels is a nonprofit organization providing one-on-one cancer support by connecting cancer fighters, survivors and caregivers. Imerman Angels partners a person fighting cancer with someone who has beaten the same type of cancer. This approach is based on the theory that one-on-one relationships give a fighter the chance to ask personal questions and get support from someone who is uniquely familiar with their experience. The service is absolutely free and helps anyone touched by any type of cancer, at any cancer stage level, at any age, living anywhere in the world.

  • Livestrong: Lance Armstrong Foundation is a national network that is dedicated to helping anyone affected by cancer. They provide information to learn about all different types of cancer, get one-on-one support and hear survivors' stories.

  • Susan G. Komen for the Cure Affiliate Network is the world's largest grassroots network of breast cancer survivors and activists fighting to save lives, empower people, ensure quality care for all and energize science to find the cures. Events like the Komen Race for the Cure brings together families, friends and strangers, helping them to feel empowered and unified while raising money for breast cancer research. Affiliate groups are in 125 cities across the country.

 

Learning your family history is critical to determining your risk for the BRCA mutation.

Learning your family history is critical to determining your risk for the BRCA mutation.

6. If someone who is BRCA positive gets a double mastectomy and gets her ovaries removed, does that mean she has no chance of getting cancer?

It is very important to have a cancer risk assessment and counseling about all options for possible prevention before making decisions on getting a prophylactic mastectomy and/or prophylactic oophorectomy. There are no guarantees for not getting cancer!

Some women who have a high risk of breast and ovarian cancer may choose to have a prophylactic mastectomy (the removal of both breasts when there are no signs of cancer) or a prophylactic oophorectomy (the removal of both ovaries when there are no signs of cancer). The risk of breast cancer is lowered in both cases. With a mastectomy, there are fewer cells available to become cancerous. The removal of ovaries decreases the amount of estrogen made by the body and thus lowers the risk of breast cancer (see the information in question 11 about estrogen as a risk factor). However, a sudden drop in estrogen levels may cause the onset of symptoms of menopause, including hot flashes, trouble sleeping, anxiety and depression. Long-term effects include decreased sex drive, vaginal dryness and decreased bone density. In some women, prophylactic mastectomy may cause anxiety, depression and concerns about body image. Symptoms vary greatly among women.

For more information on cancer risk assessment, please see:

 

7. Does having a baby help ward off the chances of getting breast cancer or ovarian cancer if you have the gene?

For most women, pregnancy seems to provide some protection against breast and ovarian cancer. In the case of ovarian cancer, studies have shown that women who have given birth are 30 to 60 percent less likely to develop ovarian cancer than are women who have never been pregnant. In fact, it appears that the more times a woman has experienced childbirth, the less likely she is to develop ovarian cancer.

Research also indicates that breast cancer risk is lower in women who have had children, particularly if they gave birth before the age of 30.

It is unclear whether this same relationship between pregnancy and breast cancer risk holds true in women who have BRCA mutations. For the most part, recent studies have found no relationship between age at first pregnancy and breast cancer risk in these women. There is also no consensus as to whether the number of pregnancies changes the risk of breast cancer in women who have BRCA mutations. Although one study found that fewer pregnancies and later age at first childbirth were actually protective against breast cancer in mutation carriers, recent studies have not confirmed this relationship.

Other studies show a modest reduction in risk of breast cancer among BRCA1 carriers with four or more births. Among BRCA2 carriers, increasing parity was associated with a significant increase in the risk of breast cancer before age 50, and this increase was greatest in the two-year period following a pregnancy.

For more information, visit:

 

8. What are the chances that a BRCA-positive woman will pass the genetic mutation on to her children? Are medical researchers working on a way to correct the mutation in future generations?

If you have a mutation in a dominantly inherited gene, each time you have a child there is a 1-in-2 chance that your child will inherit the genetic mutation instead of a working copy of the gene.

There is an option (albeit an expensive option) called preimplantation genetic diagnosis (PGD) that offers the opportunity to have offspring free of the parental BRCA mutation. With PGD, an in-vitro fertilization clinic harvests eggs from the mother-to-be and sperm from the father-to-be and brings about the fertilization on an agar plate. On the third day (when cell division has led to perhaps 6 to 15 cells), one of the cells is removed, placed in a test tube and sent via FedEx to a lab within the United States for BRCA testing. Within 24 hours, it is known whether the cell is free of the mutation. If so, on day 5, the multiplying embryonic cells are implanted in the mother-to-be with the 98 to 100 percent expectation of offspring who will be free of the cancer-causing mutation (instead of only a 50 percent chance).

 

9. My BRCA-positive friend is choosing not to get preventive surgery at this time. What steps should she be taking? How can I best support her decision?

Your friend is making a very common decision. Please encourage her to speak with a genetic counselor and a physician about options for medications and surveillance. Make sure your friend is seeing a physician often for MRIs and surveillance, and encourage her to visit a physician when she experiences any discomfort or notices any suspicious nodes. You might also encourage her to consult a nutritionist or holistic practitioner to learn about alternative therapies and diets for preventive measures.

For more information on surveillance, see:

For more information on Tamoxifen, a medication that may help prevent breast cancer, see:

 

10. If a BRCA-positive woman gets a mastectomy and then has reconstructive surgery, are there any dangers associated with the implants?

While mastectomy and reconstructive surgery offer many health benefits and the reduced chance of cancer, there are risks that are associated with these procedures.

The risks related specifically to the removal of the breast include a compromised blood supply to the skin of the chest wall, which may cause some loss of skin in this area. In rare, extreme circumstances, this may require a skin graft. There is also a risk of bleeding into the space where the breast used to be. Sometimes a second operation is required to control bleeding, but this is uncommon. You may also experience pain and sensitivity in the breast area after augmentation.

There are also risks related to reconstructive surgery. With implants, there is an increased risk of infection (most of which can be controlled with an antibiotic) and a risk that the scar around the implant will contract. This can make the breast feel hard, which can be treated by removing the scar tissue or removing/replacing the implant. (Both options involve additional surgery.) Surgical scars may fade with time, but they will never disappear entirely.

There are two different types of breast implants that are offered: silicone and saline. Silicone breast implants are said to feel more "real" than saline implants. However, saline breast implants are generally less expensive and the incision is also smaller.

A major risk with breast implants is that they have the potential to burst or leak. Once this happens, the implant will quickly lose its size and form. If a saline implant bursts, your body will not suffer from dangerous toxins, as saline is nothing more than a water with salt added. A leak from silicone breast implants may cause extreme harm to your body before you even realize the leak is present.

It is important to understand the benefits and risks that are associated with the different types of implants that are available. You should also become familiar with the basic benefits and risks associated with the procedure in general.

For more information visit:

 

11. Do oral contraceptives (birth control) reduce my risk of getting breast or ovarian cancer?

Taking oral contraceptives ("the pill") may slightly increase the risk of breast cancer in current users. However, this risk decreases over time. The most commonly used oral contraceptive contains estrogen. Estrogen is a risk factor in breast cancer.

Endogenous estrogen is a normal hormone made by the body. It helps the body develop and maintain female sex characteristics. Long-term exposure to estrogen may increase the risk of breast cancer. Estrogen levels are highest during the years a woman is menstruating. A woman's exposure to estrogen is increased in the following ways:

  • Early menstruation: Beginning to have menstrual periods at age 11 or younger increases the number of years the breast tissue is exposed to estrogen.

  • Late menopause: The more years a woman menstruates, the longer her breast tissue is exposed to estrogen.

  • Late pregnancy or never being pregnant: Because estrogen levels are lower during pregnancy, breast tissue is exposed to more estrogen in women who become pregnant for the first time after age 35 or who never become pregnant.

Progestin-only contraceptives that are injected or implanted do not appear to increase the risk of breast cancer.

Results from a National Cancer Institute study show that women who had taken oral contraceptives were 27 percent less likely to develop ovarian cancer. The study went on to conclude that the longer an oral contraceptive was used, the greater the reduction of risk for ovarian cancer, decreasing about 20 percent for each five years of use. Furthermore, for each five years of use, risk of developing ovarian cancer was reduced 29 percent in the first 10 years after discontinued use of taking oral contraceptives.

For more information on ovarian cancer and oral contraceptives and to read the report of the aforementioned study, please visit:

For more information on breast cancer prevention, please visit:

These responses were written by Beckie Stocchetti, with the help of the National Society of Genetic Counselors and FORCE and the support of the National Human Genome Research Institute and the National Cancer Institute (components of the National Institutes of Health).





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