Angelina Jolie, Genetic Testing and Understanding Breast Cancer Risk
Guest blog post from Susan Brown, Managing Director, Community Health, Susan G. Komen
You’ve no doubt heard by now that Oscar-winning actress Angelina Jolie found out through genetic testing that she is at high risk for breast cancer. She ultimately decided to undergo a prophylactic bilateral mastectomy to reduce her risk of developing the disease. We at Komen admire Angelina for taking a very difficult and, quite frankly, very personal decision, and making it public. She shared her story with the world and used it as an opportunity to educate women everywhere about being aware of their family histories and taking charge of their health. And it certainly appears that she got people talking! We’ve received a number of questions from reporters across the country, hoping to learn more about breast cancer and the decisions she made – and we welcome the opportunity to share information and talk about breast cancer.
In fact, we’d like to highlight a few of the common questions we’ve been asked this week (maybe some of which you’re curious about too!) and hopefully reach more people with important breast cancer information.
Who typically gets genetic testing?
People who think they are high risk of breast cancer may think about genetic testing. People who have a family history of breast cancer may think they should get tested. However, not everyone with breast cancer in their family should run out to get this test. So, who should? Genetic testing is recommended for those with:
- A personal or family history of breast cancer at age 45 or younger
- A family member with ovarian cancer at any age
- A personal or family history of both breast and ovarian cancer on the same side of the family
- A personal or family history of male breast cancer
- Ashkenazi Jewish heritage (as well as a family history of breast or ovarian cancer)
- A personal or family history of bilateral breast cancer
Genetic tests are done to see if a person has one of two gene mutations. They are called BRCA1 and BRCA2 gene mutations. These mutations are rare in the general population. They occur in between 1 in 400 to 1 in 800 people in the U.S. Some groups, however, such as Ashkenazi Jews, have a much higher chance of having one of these mutations; the risk in this group is one in 40. So, you can see why family history is so important in understanding breast cancer risk.
The genetic test is usually done first on a person who has been diagnosed with breast cancer whose personal or family history suggests the presence of one of these mutations (see above). If that person is found to have one of these mutations, then other family members may also decide to get tested. Making a decision to get tested is very personal and can be a difficult decision. While it is a simple, although expensive, blood test, the results can have significant emotional and financial repercussions. For that reason, we think that those who are thinking about getting this test can benefit from talking first with a genetic counselor. A counselor can look at family history and discuss the likelihood of a gene mutation being present in the family, discuss the possible outcomes of the test and talk about the decisions that may be faced if a gene mutation is found. Here are questions to ask your doctor if you think you are at risk.
Also, to keep it in perspective, in the U.S. only about 5 to 10 percent of female breast cancer cases are due to gene mutations. So, MOST women who get breast cancer don’t have one of these mutations.
One thing to remember as well is that if a woman gets tested and finds that she does not have the mutation, it just means that she doesn’t have the mutation and that very high risk. However, it doesn’t mean that she doesn’t have any risk at all. She is still at risk of breast cancer – like the 90 to 95 percent of women in the U.S. who have breast cancer without these two mutations!
What do gene mutations tell us about breast cancer risk?
Having one of these gene mutations greatly increases the chance that a person will develop breast (and ovarian) cancer. Those who have a mutation in the BRCA1 gene have a 50 to 70 percent chance of developing breast cancer before age 70 and those with a mutation in the BRCA2 gene have a 40 to 60 percent risk by age 70. To put this in perspective, in the general population, the risk is eight percent. So the risk is very high. However, it doesn’t necessarily mean that everyone with one of the mutations will develop breast cancer.
What should I know?
The two most common risk factors are being a woman and getting older – things that you cannot change. However, there are other factors that may be within your control. We recommend:
- Know your risk: talk to your family to learn about your family health history, and talk to your health care provider about your personal risk. Angelina Jolie’s story shows how important that can be. And, your father’s side of the family history is just as important as your mother’s side.
- Get screened: For women at average risk, have a clinical breast exam at least every 3 years starting at age 20, and have both a mammogram and clinical breast exam every year starting at age 40. Ask your doctor which screening tests are right for you if you are at a high risk.
- Know what is normal for you: See your health care provider if you notice any changes in the shape, size or appearance of your breasts.
- Make healthy lifestyle choices: Maintain a healthy weight, exercise, limit alcohol intake, limit menopausal hormone use and breastfeed, if you can.
Who generally chooses bilateral mastectomy as a method of preventing breast cancer?
For people who have one of these gene mutations and are at a substantially higher risk for getting breast cancer, having a preventive surgery is certainly one of their options. It can reduce risk by 90 percent and the surgical removal of the ovaries can reduce breast cancer risk by about 50 percent. Other options are to take risk-reducing drugs such as tamoxifen or raloxifine, and increase surveillance through regular screenings with mammograms and MRIs.
What are the downsides of prophylactic mastectomy?
Sometimes there are complications from surgery, but often it’s more of an emotional response, whether to the surgery itself or to the whole process of finding out that you are at high risk for breast cancer and then making very difficult decisions, is hard to know. And, there can be issues with body image as well. However, like with Angelina Jolie, who indicated that she took charge of her situation, many women also feel empowered and proactive having made this decision.
If you want more information about breast cancer risk, prophylactic surgery, genetic testing, and other topics, or to learn about resources in your area, komen.org has a bevy of information or call us at 877-GO-KOMEN (877-465-6636). The breast care helpline is open Monday – Friday from 9:00 a.m. – 10:00 p.m. EST.
About the author
Nancy G. Brinker promised her dying sister, Susan G. Komen, she would do everything in her power to end breast cancer forever. In 1982, that promise became Susan G. Komen and launched the global breast cancer movement. Today, Komen 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. Thanks to events like the Komen Race for the Cure®, we have invested more than $1.9 billion to fulfill our promise, becoming the largest source of nonprofit funds dedicated to the fight against breast cancer in the world.