Tuesday's news that Angelina Jolie had her ovaries and fallopian tubes removed as a preventative measure after tests revealed that she might be in the early stages of ovarian cancer was more than just an interesting story about health, modern science, and the role technology plays in our well-being. For many women, reading about Jolie's experience made us wonder what would happen to us if we were to test positive for a BRCA mutation. After all, Jolie already focused public attention on the existence of the "breast cancer gene" when she underwent a preventative double mastectomy in 2013, after finding out that she carried a BRCA 1 genetic mutation — which, along with mutation of the BRCA 2 gene, can put women at an 85 percent risk of developing breast cancer, and a 45 percent risk of developing ovarian cancer.
Though less than one percent of the general population has a BRCA1 or BRCA2 mutation — and only 50 percent of women who test for the mutations find that they have them — Jolie's public openness with her preventative healthcare has made many of us consider what we would do if we found ourselves in her shoes.
So, if we test positive for a BRCA mutation, what happens next? Does it mean that getting cancer is inevitable? Do all or even most women who test positive for BRCA mutations end up getting preventative surgery, like Jolie? What treatment options are available for women who want children but haven't had them yet? How do women cope with the knowledge of their status?
Bustle spoke with Dr. Mark Green, a senior investigator in the Clinical Genetics Branch in the National Cancer Institute’s Division of Cancer Epidemiology & Genetics, about the six most important things that young women should know if they test positive for a BRCA mutation.
1. If I Test Positive For A BRCA Mutation, Does That Mean I'll Develop Cancer?
Though your odds of developing breast or ovarian cancer will be a great deal higher than the average woman (whose odds of developing breast cancer are 12.4 percent, and whose odds of developing ovarian cancer are only 1.4 percent), testing positive for a BRCA mutation does not mean that you will definitely develop breast or ovarian cancer.
Some women who have the genetic mutation never develop cancer, in fact — usually because of preventative steps they took after learning their mutation status, which is why Dr. Greene believes that getting tested is so important. "You can only make effective decisions in your best interest," says Greene, "if you know what you are up against." If you're at risk, taking a BRCA mutation test should help you and your doctors be more aware of your health — not make you feel like you have no hope.
2. What Should I Do If I Test Positive?
Dr. Green recommends that women meet with a genetic counselor before and after getting tested; if women find that they have a genetic mutation, an experienced genetic counselor can help them make informed decisions about treatment, fertility, surgery, and their future. Greene notes that "the genetic counseling process doesn't stop with the disclosure of your mutation status;" a counselor can help assess your unique risks, and help you formulate and carry out a long-term plan.
3. Do Most Women With BRCA Mutations Choose Preventative Surgery?
Yes. Because there is no fully effective screening procedure for ovarian cancer, a disease which tends to be difficult to detect and difficult to treat, doctors do recommend that women with BRCA1 mutations have their ovaries and fallopian tubes removed by age 35 or 40 (women with BRCA2 mutations can sometimes postpone surgery until their forties). The procedure also reduces afflicted women's overall risk of breast cancer, and sometimes eliminates the need for a preventative mastectomy.
Though many women are reluctant to remove their ovaries — especially because it ends your ability to produce new eggs and, thus, naturally conceive children — women with BRCA mutations who undergo the procedure (called an "oophorectomy") have their rate of ovarian cancer reduced by 80 percent.
A bilateral prophylactic mastectomy — a surgical procedure that involves removing all or most of both breasts — is traditionally the most common preventative surgery for women with BRCA mutations, and lowers the patient's risk of developing breast cancer by 95 percent.
4. Do All Preventative Treatments Impact Your Fertility?
Having your ovaries and fallopian tubes removed, as Jolie did, induces early menopause; women who have undergone this procedure can't have more children. Some women undergoing surgical preventative treatment opt to freeze their eggs; women without fallopian tubes can still carry a pregnancy to term using IVF, though the expense of the procedure can be prohibitive, and it is not covered by most insurance companies.
Dr. Greene pointed out that a support system of counselors and doctors can help a woman make informed choices that put her in charge of her own fertility as much as possible; for example, since it is very rare to develop ovarian cancer under the age of 30, a woman in her twenties at risk for the disease might be able to conceive and bear children before she must have her ovaries and fallopian tubes removed.
5. If I Have A BRCA Mutation, Will My Children Have It, Too?
Though doctors do not offer BRCA mutation testing for children, if you test positive for the BRCA mutation, any child you have will have a 50 percent chance of inheriting the mutation.
6. What Kind Of Support Is Out There For Women With BRCA Mutations?
Though support groups for women who have been diagnosed with cancer are more visible, there are a number of organizations out there that provide support to women who have BRCA mutations — both immediately after their diagnosis, and throughout their lives as they make health and life decisions. Dr. Green recommends that young women who test positive "avail themselves of the support that's potentially available from the patient advocacy community."
The group FORCE (Facing Our Risks of Cancer Empowered) offers a large network of hotlines, chat rooms, and in-person support groups throughout the U.S. for women living and coping with BRCA mutations. Bright Pink, a non-profit dedicated to young women dealing with breast and ovarian cancer, offers a peer support group that connects young at-risk women. And many cancer websites, such as BreastCancer.org, also offer dedicated discussion boards for women dealing with BRCA mutation diagnoses. The important thing, says Greene, is to remember that if you test positive for a mutation, you're not alone: "you shouldn't think of this as something that you have to tackle on your own."
