In May 2013, Angelina Jolie wrote an op-ed for The New York Times about her family’s experiences with breast cancer. Her mother had recently died of the disease. Jolie elected to have genetic testing to see if she carried a genetic predisposition for the disease. After testing, she learned that she carried a mutation in the BRCA1 gene, which increased her risk for breast and ovarian cancer.
Because of her results, Jolie decided to undergo a double mastectomy (removal of both breasts) to protect her health. Jolie penned the op-ed to help remove the stigma of genetic testing for breast cancer.
“I am writing about it now because I hope that other women can benefit from my experience,” she wrote. “Cancer is still a word that strikes fear into people’s hearts, producing a deep sense of powerlessness. But today it is possible to find out through a blood test whether you are highly susceptible to breast and ovarian cancer and then take action.”
Since 2013, genetic testing has expanded to include more genes and is increasingly accessible. More is known about the strategies to prevent cancer. Knowing your risk doesn’t determine your choices. Testing helps you understand your risk factors and decide the best way to manage your health.
A minority of cancers are related to a hereditary syndrome
A diagnosis of breast and other cancers often prompts people to learn more about their family histories, only to learn they have inherited a cancer susceptibility gene.
“Still, only a minority of cancers are related to a hereditary syndrome. For example, in women with a diagnosis of breast cancer, less than 20% are related to a familial tendency,” said Dr. Grace Makari-Judson, medical director of the Family Cancer Risk Program.
A woman with an average risk of breast cancer has about a 12% chance of developing breast cancer in her lifetime, while a woman who has inherited a breast cancer susceptibility gene could have a 20-80% risk over her lifetime depending on the specific gene. Multigene panels are currently performed to include many genes cancer associated genes. These broader tests find more mutations, including the more well-known BRCA1 and 2, but may also identify genes that do not have clearly recommended guidelines for care.
When testing large groups of genes, there is up to a 30% chance of having a “variant of uncertain significance” which is a genetic change that may or may not be associated with higher cancer risk. If a positive result is found in an individual, there is a 50-50 chance that it may be passed on to their children. Your grandmother, aunt and mother may have had breast cancer and tested positive for the gene. Still, you may not have inherited it.
Individuals with a cancer diagnosis should always test first, if possible. “This is important since the results may affect their own cancer treatment and would be informative for multiple family members,” says Makari-Judson. Testing is more complex today and interpretation of results and formulation of a plan are best done in consultation with trained professionals with a genetics or oncology background.
What to expect during genetic testing
1. Genetic counseling
Your genetic counselor will create a positive environment to explore your family history and attitudes toward cancer. A genetic counselor is trained to discuss these sensitive topics and help you understand your feelings and next steps.
During this meeting, you will:
- Discuss your family history in-depth.
- Talk about your health.
- Explore your choices and discuss next steps if your genetic test comes back positive for either gene.
- Discover your personal beliefs about health and illness. This discussion can help you mentally prepare to receive the results.
- Explore how you will communicate to relatives the risk factors associated with carrying the gene.
2. Genetic testing
Testing can be performed as a blood test, a cheek swab or a saliva test.
3. Informed consent
You sign documents relating to the topics you discussed with your genetic counselor. This step helps ensure that you understand all of the testing procedures and possibilities.
Your genetic counselor should get the results in a few weeks and lets you know if a “known deleterious mutation”, meaning a genetic change associated with higher cancer risk, is identified. Testing results are sometimes unclear, so your genetic counselor helps you interpret the test and if it is “clinically significant”, meaning that it would change recommendations for care.
It is very important to keep a copy of your test report and to share it with your family.
Depending on your results, you may need to discuss next steps to manage your health. If a known mutation is found, it is helpful to meet with a medical oncologist to put this information into perspective with your age, overall health and family history. Strategies for those with positive tests may include preventative surgeries; heightened surveillance, risk reducing medications and lifestyle changes.
“A negative test does not mean that an individual will never be diagnosed with cancer, since most people with cancer test negative,” says Makari-Judson, “so it is important to keep up with regular screenings as recommended for people in your age group.”
Information is power. Understanding your risk for breast cancer gives you the power to plan for how to take charge of your health. Talk to your healthcare provider about whether you should consider a consultation with the Family Cancer Risk Program.
For more information, call, 413-794-8890.
Learn more about breast cancer awareness month.