It might feel like your world stops after receiving a diagnosis of breast or ovarian cancer. Even in that mental and emotional fog, there are several next steps to consider. Coming up with a treatment plan is a big one, along with finding out whether or not you need any kind of additional exams, like BRCA testing to look for certain genetic mutations that increase cancer risk. Here’s what you should know about BRCA testing and who might want it after a breast or ovarian cancer diagnosis.
In people without genetic mutations, BRCA1 and BRCA2 genes create proteins that help to suppress tumors by controlling cell growth.
These proteins repair damaged DNA that can otherwise lead to cancer, the National Cancer Institute (NCI) explains. So, if your BRCA1 or BRCA2 genes have mutated, they may not be able to adequately fix cell damage. As a result, your cells are more likely to develop more genetic alterations that can eventually lead to cancer. (FYI: There are some BRCA mutations that are “ambiguous” in that experts aren’t yet sure if they increase cancer risk. Unless otherwise stated, we’re only talking about BRCA mutations known to raise cancer risk.)
BRCA mutations are involved in 5 to 10 percent of breast cancer cases and about 15 percent of ovarian cancer cases, according to the Mayo Clinic. If either one of your parents carries a BRCA gene mutation, you have a 50 percent chance of inheriting it, the NCI says.
Although BRCA gene mutations can raise your risk of developing a variety of different cancers, like that of the pancreas, they’re most closely linked with increased odds of getting breast and ovarian cancer.
Around 12 percent of people with ovaries in the general population will get breast cancer at some point, according to the NCI. A 2017 study published in JAMA that analyzed 6,036 people with ovaries and BRCA1 mutations and 3,820 with ovaries and BRCA2 mutations sheds some light on how these mutations affect that risk. According to the study, about 72 percent of people with ovaries and a BRCA1 mutation will develop breast cancer before they turn 80. That number dips slightly to 69 percent for BRCA2 mutations.
The study also found that about 44 percent of people with ovaries with a BRCA1 mutation and 17 percent of people with ovaries with a BRCA2 mutation will develop ovarian cancer by age 80. That’s much higher than the general population’s risk of 1.3 percent.
If you already have a cancer diagnosis, your specific risk factors will help determine if you should get BRCA testing.
Unfortunately, developing one kind of cancer caused by a BRCA gene mutation doesn’t waive your risk of getting other BRCA-induced cancers in the future, Stephen Rubin, M.D., chief of the Division of Gynecologic Oncology at Fox Chase Cancer Center, tells SELF. “That’s why we often recommend genetic testing,” he says.
That doesn’t mean experts suggest that everyone with a breast or ovarian cancer diagnosis undergoes testing for BRCA mutations. Your other risk factors will play a huge role here. In general, your doctor is going to recommend testing if any of the following applies to you, according to the Mayo Clinic:
Being diagnosed with breast cancer before menopause or age 50
Being diagnosed with triple negative breast cancer diagnosed at age 60 or younger
Having cancer in both breasts
Having both breast and ovarian cancers
Having ovarian cancer at all, since it's rarer and more closely linked with BRCA mutations
In addition to having breast cancer, having one or more relatives with breast cancer diagnosed at age 50 or younger, one relative with ovarian cancer, or two or more relatives with breast or pancreatic cancer
Having two or more close relatives, like parents or siblings, diagnosed with breast cancer at a young age
Having a male relative with breast cancer
Having a family member who has both breast and ovarian cancers
Having a family member with cancer in both breasts
Having a relative with ovarian cancer
Having a relative with a known BRCA1 or BRCA2 mutation
Being of Ashkenazi (Eastern European) Jewish ancestry with a close relative who has breast, ovarian, or pancreatic cancer at any age
But some of this will also depend on your doctor. Some doctors will strongly urge you to undergo testing if you’ve been diagnosed with breast or ovarian cancers, while others may not depending on the specific type of each cancer you have.
Either way, you should only get testing after receiving thorough information about the process and what the results might mean, Susan Vadaparampil, Ph.D., M.P.H., a senior researcher in the Health Outcomes and Behavior Department at Moffitt Cancer Center, tells SELF. For instance, getting a positive result doesn’t mean you’ll definitely get breast or ovarian cancer, just as a negative result doesn’t mean you absolutely won’t. A doctor or genetic counselor can walk you through whether or not BRCA testing makes sense for you.
If you do get BRCA testing, the physical process shouldn't be complicated.
Ask your doctor how to prepare for the test, like by collecting as much information you can about your family’s medical history (and your own).
During the actual test, a medical professional will take either a blood or saliva sample, according to the Mayo Clinic. “Then off to a testing laboratory it goes,” David Cohn, M.D., a gynecologic oncologist and chief medical officer at The Ohio State University Comprehensive Cancer Center - Arthur G. James Cancer Hospital and Richard J. Solove Research Institute, tells SELF. The results should be available in about two to six weeks, Dr. Vadaparampil says.
Waiting for the results might be incredibly hard emotionally, as can receiving a positive or ambiguous result that may make it feel like you’re destined to get more cancer in the future. This is the time to really lean on your support system, like your oncologist, genetic counselor, loved ones you trust, and any cancer support groups you may belong to.
If your test shows a BRCA mutation, you can meet with your doctor or a genetic counselor to discuss the results and any next steps to consider in addition to your cancer treatment, like a risk-reducing surgery to remove both breasts, your ovaries, and/or your fallopian tubes (where many ovarian cancers actually originate). You can also discuss what this means for your family. You may want to share your results with any blood relatives and encourage them to consider genetic testing and counseling, Dr. Cohn says.
If your doctor has recommended BRCA testing and you’re on the fence, Dr. Rubin urges you to consider how important it is. “I tell patients knowledge is power,” he says. “Knowing that you do or don’t have these mutations can do a lot.”