Women who test positive for the BRCA mutation and are at high risk of getting breast cancer sometimes choose to get a preventive double mastectomy. This elective surgery substantially lowers a woman’s likelihood of developing breast cancer. What is the BRCA mutation? Could you have it? What should you do if you test positive for it?
In her compelling New York Times Op-Ed, actress and mother Angelina Jolie revealed a big secret: She has a BRCA1 gene mutation, which dramatically increases her risk of breast and ovarian cancer, and she chose to have a preventive double mastectomy. Women with this mutation have a 56 to 87% chance of developing breast cancer and a 15 to 40% chance of developing ovarian cancer.
There are two types of BRCA genes. BRCA1, which stands for “Breast Cancer 1” is located on chromosome 17, while BRCA2 is located on chromosome 13. Both genes, if working normally, prevent cancer by maintaining a natural mechanism that repairs the PTEN gene, which regulates cell division. If the PTEN gene (or other similar genes) breaks and isn’t repaired by a normally functioning BRCA gene, cells are prone to divide more rapidly and become cancerous. With a BRCA mutation, one loses the ability to fix the PTEN gene and has a higher risk of cancer.
Why Is Angelina Jolie’s Decision Considered Controversial?
Jolie isn’t the only celebrity to have tested positive for BRCA1 and undergo a mastectomy. Sharon Osbourne also got the surgery as a preventative measure last November. While Jolie and many women who test positive for the BRCA mutation may be justified in undergoing invasive and expensive surgery to remove their breast tissue or reproductive organs, some worry that it may compel other women to seek out unnecessary surgeries.
In fact, the number of mastectomies has increased in the last 20 years. A study from the Journal of Clinical Oncology found that the number of mastectomies have increased by over 150% from the late 1990s to the early 2000s. The reason for this isn’t very clear. Some experts suggest it may be due to advances in breast surgeries, which are now safer and less expensive and have more aesthetically pleasing results.
Some experts worry that it may cause a “rush of expensive testing, leading to panic and misinformation.” Dr. Otis Brawley, Chief Medical Officer of the American Cancer Society (ACS), mentions his “nightmare is that a lot of women are going to go to their doctor and demand this test and not really need this test.”
In response to Jolie’s revelation, the ACS issued a statement praising her decision, but warning women that a double mastectomy isn’t the cure-all option for the BRCA mutation. After the surgeries, about 10% of the breast tissue still remains, and can still become cancerous. However, the latest research on the procedure shows that a double mastectomy can decrease the risk of breast cancer by 90% or more in those with the BRCA mutation.
Many women choose to get the operation in order to ease their fear of cancer. “I didn’t want to live under that cloud,” says Osbourne, who figured the odds were not in her favor after she tested positive for the mutation. Jolie decided to be “proactive and minimize the risk as much as [she] could.” She also says losing her mother to ovarian cancer at age 56 and her wanting to be around as long as possible for her six children helped her make the difficult decision.
Another point of controversy involves Myriad Genetics, one of the groups that discovered the BRCA1 and BRCA2 genes. Myriad Genetics currently holds a patent on those genes to secure funding for its testing. The Supreme Court is taking on this hot topic of whether a gene should be patented. The company also holds a monopoly on testing for the gene and charges nearly $4,000 for analysis; the company made over $115 million in the third-quarter of 2012. After Jolie’s Op-Ed was released, stock in Myriad Genetics soared to a three-year high.
Jolie did not mention the Supreme Court case in her statement, and it’s not clear whether Jolie’s piece was part of an effort to influence the Supreme Court in one direction or another. Jolie has not made a public statement regarding her opinion on the matter.
Should I Get Tested for BRCA?
Because between 1 in 400 an 1 in 800 people are estimated to have the BRCA gene mutation, many women may feel worried about having it or having an increased risk of breast cancer. Currently, there are no specific guidelines for getting tested for a BRCA mutation. However, those with a family history of breast cancer tend to share certain similar characteristics.
Breast cancer may run in your family if:
- You have a history of both breast and ovarian cancer in your family.
- You or a family member was diagnosed with breast cancer at an early age, before age 50.
- There are men in your family who have been diagnosed with breast cancer (male breast cancer is very rare and may indicate a genetic cause).
- You are of Ashkenazi Jewish ancestry. Those of this ethnicity have a higher risk of having a BRCA mutation. Studies show that around 1 out of every 40 people in this population have a mutation in BRCA1 or BRCA2.
If you have any of these risk factors, talk with your physician or a professional trained in genetic counseling to help you decide if you should be tested. The test requires a blood sample and looks at your genetic code. It may also require you to map out your family tree to identify family members who have had breast or ovarian cancer, and also identify any other members of your family who should also be tested.
The test can cost several thousand dollars. Some insurance companies may cover part or all of the cost, but in general, BRCA testing is not covered. However, the Affordable Care Act, when implemented, will include BRCA testing as “preventative care,” which will require insurance companies to cover the test. You can talk with your insurance company to see if they cover the test or not.
What If I Get The Test and It’s Negative?
This most likely means you do not have the BRCA1 or BRCA2 mutation. This means your cancer risks are possibly no different than that of the general population, which is around 1 in 8. However, it doesn’t mean that you don’t have an increased risk of breast cancer. There are other genetic mutations that may increase your risk that would not be found in a BRCA test. Many of them, in fact, haven’t been identified yet and there are not tests for all the gene mutations that have been identified.
You should continue with regular breast cancer screening protocols set by your doctor, which includes getting regular mammograms. Remember only 5 to 10% of women who get breast cancer actually have the BRCA mutation.
What If I Get The Test and It’s Positive?
This means that you have a mutation that is known to be associated with an increased risk for breast cancer and ovarian cancer. If you test positive, you should talk with your doctor about your options for lowering your risk as much as possible. They include:
- Getting Screened Earlier and/or More Frequently: While the United States Preventive Services Task Force doesn’t recommend getting regular mammograms for breast cancer until age 50, this doesn’t apply to women who have a strong family history of breast cancer. Your doctor may recommend mammograms or MRI cancer screening starting at age 25. Doctors may also recommend getting twice yearly ovarian-cancer screenings with a transvaginal ultrasound and measuring CA-125 levels. Monthly breast self-exams are encouraged. Read more about ways to reduce your risk.
- Surgery to Lower Your Risk of Cancer: Some women elect to have surgery to remove the breast and/or ovarian tissue to lower their risk of developing cancer. There are multiple surgical options, which should be discussed with a highly trained physician. You can see some results of different mastectomy procedures throughout the years. WARNING: The images you are about to see are graphic and may not be appropriate for all ages. View these images.
- Medication to Lower Your Risk: Some studies have shown the benefits of taking breast-cancer prevention drugs that lower the effects of estrogen on breast and ovarian tissue. One of the drugs, tamoxifen, has been shown to lower cancer risk by 50% in women who are at increased risk of cancer. Some doctors may also suggest taking birth control pills, which can reduce the risk of ovarian cancer.
With her revelation, Angelina Jolie has shown women and men around the country that it’s important to take your personal health decisions into your own hands. It’s okay to consider surgery. It’s okay to not consider surgery. The best thing you can do is educate yourself, be proactive and vigilant, and make the decisions that are best for you.