Everyone has genes called BRCA, also called breast cancer susceptibility genes, which are responsible for repairing DNA. BRCA, which you might hear spelled out or pronounced “Bra-ca,” stands for BReast CAncer genes. It describes two types of genes: BRCA1 and BRCA2. These genes aren’t related to each other, but serve similar purposes.
When BRCA genes are working the way they’re meant to, they are tumor suppressors: they repair DNA in breast tissues, as well as some other parts of your body. When BRCA changes or is damaged, though, it can lose its ability to repair DNA. Unrepaired DNA variations (also called mutations) can cause cells to grow uncontrollably, leading to cancers. BRCA is most closely linked to breast and ovarian cancer, but research shows a BRCA variation can also increase the risk of pancreatic and prostate cancer.
You may have heard about BRCA variations due to how much they increase someone’s risk of breast cancer. Testing positive for a BRCA variation doesn’t mean anyone needs to panic. Gynecologic oncologist Dr. Melissa Frey from Weill Cornell Medicine says there are a lot of options for managing BRCA-related cancer risk. “We’ve been managing BRCA for three decades,” says Dr. Frey. “We’re actually getting better and better at this.”
Of course, learning that you have a BRCA variation will change your life. “It can feel like a before and after — I carry this risk; how do I manage my health? It’s wrapped up in relationships, future children, all of it,” says Jaquelyn Powers, a genetic counselor at the University of Pennsylvania for almost twenty years. But this knowledge is power, it can help you. “We’re empowering patients to be proactive and preventative. We want to make sure that the patient feels oriented with choice.”
If you have any concerns that you might have a BRCA variation, or you have a family history of cancers, you and your healthcare providers and a genetic counselor can evaluate your risk and help you plan for a future that feels safe, right, and comfortable for you.
Who is Most Likely to be BRCA Positive?
There are a few factors that increase your likelihood of testing positive for a BRCA variation. According to the Center for Disease Control, these are: having a family history of breast and ovarian cancer or a relative with a known BRCA variation. The BRCA variation is also more common among people who are of Ashkenazi Jewish descent; 1 in every 40 Ashkenazi Jewish women inherit the BRCA variation.
Who Do You Ask If You Want to Be Tested?
Powers, a genetic counselor at the University of Pennsylvania, says, “a good starting point is asking your gynecologist or primary care provider. They should be eliciting family history and, based on that and ethnicity, identifying eligibility for genetic counseling and testing. If they’re unsure, a good doctor says, ‘Let me find out.’”
And if they don’t seem to be interested in supporting you, the National Society of Genetic Counselors has a ‘find a genetic counselor’ tool.
How Do I Get Tested for a BRCA Variation?
Genetic tests for BRCA tend to be fairly straightforward. Genetic testing typically involves taking saliva and sending it to a lab to check for variations in the BRCA1 and BRCA2 genes. After a few weeks, you’re told if you received a positive result (i.e. you have a variation) or a negative result (you don’t). Note: these results can also be inconclusive.
If you test positive, you and your doctor will discuss your options, like surgery, monitoring, and/or hormonal treatment.
In discussions of BRCA gene variations, you might hear the term previvor, which describes people who have a higher risk of cancer. This includes people with the BRCA1 or BRCA2 variations. Vivian Pan, senior genetic counselor at the University of Illinois Chicago, says previvors share some experiences with cancer survivors: increased stress, more doctors’ appointments and regular monitoring, and the stress of potentially getting sick (or sicker).
What Are Your Options After Testing BRCA Positive?
People with BRCA variations have a number of options, ranging from a “watch-and-wait” approach, taking risk-reducing medication, or getting surgeries like a preventative mastectomy or ovarian surgery. The best choice for you depends on your age, type of BRCA variation, and other risk factors, as well as what you’re personally comfortable with.
“It’s a continuum of how much risk we have, and then what we do about those risks,” says Pan. You and your healthcare providers, such as oncologists and genetic counselors, can help you determine the best options for you.
“If someone carries a BRCA mutation,” says Powers, “they might feel more inclined to consider a larger surgery. But bilateral mastectomy doesn’t have to be something they ever wrap their head around. You can have a lumpectomy and treatment as a BRCA carrier. Long term, we’d adjust surveillance—mammogram and MRI—if that feels right to you.”
“With BRCA especially, there’s a tendency to be very pro-surgery. That’s a good fit for many, but not for all,” she says. “Someone who surveils long-term after breast conservation therapy—like a lumpectomy—and someone who elects bilateral mastectomy have the same life expectancy. If we’re screening frequently, we aim to detect cancer early: treatable, curable. The long-term life expectancy is the same.”
Close Monitoring, With Mammograms and MRIs
Many people who test positive for BRCA variations opt for a “watch and wait” approach. This means they get frequent tests. Dr. Frey says people with either BRCA1 or BRCA2 variations should start getting yearly breast MRIs from age 25, and yearly mammograms from age 30. She recommends spacing those tests six months apart (for example: getting an MRI every winter and a mammogram every summer) so you’re generally getting checked more frequently than once a year.
Antihormonal Medication
BRCA2, specifically, tends to be associated with hormonally responsive cancers. Many people with BRCA2 variations take antihormonal medication, like tamoxifen, which is a pill taken daily for about five years. Tamoxifen prevents estrogen from attaching to potentially cancerous cells in breast tissue. This keeps the estrogen from telling cells to multiply, preventing cancer. According to Dr. Frey, using drugs like tamoxifen to prevent cancer is referred to as chemoprevention. Because tamoxifen blocks the effects of estrogen in some tissues, it could cause side effects associated with menopause, like hot flashes and lower libido. (Jadey’s guide to treatment-induced menopause could be helpful if you are experiencing these side effects.)
Risk-Reducing Mastectomy
“Women also have the opportunity to pursue risk-reducing mastectomy, but that’s really a personal decision,” says Dr. Frey. Typically, both breasts are removed in what’s called a bilateral prophylactic mastectomy. The surgery is performed under general anesthesia, and you usually can go home the same day. Many women who opt for mastectomies choose to undergo breast reconstruction (sometimes immediately or sometimes well after surgery), and many choose not to.
Risk-Reducing Ovarian Surgery
BRCA variations increase your risk not only of breast cancer, but of ovarian cancer as well, which is why your doctor may recommend surgery that would remove your ovaries and fallopian tubes. We don’t have reliable ways to screen for ovarian cancer the way we do for breast cancer, which is why doctors might advocate for ovary/fallopian tube removal more strongly than they advocate for a mastectomy. Doctors usually recommend this surgery between the ages of 35 and 40. If you’re concerned, don’t hesitate to push for imaging. (Jadey’s interview with Dr. Shieva Ghofrany has some good tips.)
The removal of ovaries induces early menopause, which can sometimes be treated with hormone replacement therapy. Not everyone is eligible for hormone replacement therapy, though, and your doctor will be able to advise on the recommended protocol for you. (People who have already had breast cancer, for example, aren’t usually recommended to undergo hormone replacement.)
And Some Promising Options, Coming Down the Line
Even more options for people with BRCA variations may be on the horizon. Research suggests that many cases of ovarian cancer originate not in ovaries but the fallopian tubes. Basically, surgeons noticed pre-cancerous lesions in the fallopian tubes that could one day become ovarian cancer. Therefore, removing fallopian tubes earlier (and then removing ovaries later in life closer to natural menopause), is an option oncologists worldwide are studying, says Dr. Frey.
However, research into whether this two-part approach reduces cancer as effectively as removing the fallopian tubes and ovaries at once is still being studied.
Testing BRCA-variation positive, or thinking you’re at risk for the BRCA variation, doesn’t necessarily mean you’re going to get cancer, and it doesn’t necessarily mean you need to get surgery. In fact, learning you have a BRCA variation before you develop cancer can help prevent you from ever developing breast or ovarian cancer in your lifetime. You and your healthcare providers can make a plan that works for you, whether it’s risk-reducing surgery or a watch-and-wait approach. There’s no one-size-fits-all approach to preventing BRCA-related breast and ovarian cancers, and that means there are a lot of ways to reduce your risk.
