We tend to think of BRCA genetic mutations as a major risk for breast cancer—and they are. But these mutations—present on genes that can normally help suppress tumor activity via producing proteins that repair DNA—can also increase your risk for other cancers, including ovarian cancer. Thanks to our increasing understanding of the role these mutations play in the disease, knowing whether or not you carry a BRCA mutation can also help direct your treatment.
If you've been diagnosed with ovarian cancer or know that you have a BRCA1 or BRCA2 mutation, here's what you need to know about how your BRCA status could affect your path moving forward.
After an ovarian cancer diagnosis, your doctor will probably suggest genetic testing for BRCA mutations.
Having a BRCA mutation raises your risk for several types of cancer, especially ovarian cancer, SELF explained previously. That, plus the fact that ovarian cancer is so rare, means that it's a good idea—and in fact usually recommended—for anyone who's been diagnosed with ovarian cancer to undergo genetic testing, Sanaz Memarzadeh, M.D., Ph.D., professor and gynecologic cancer surgeon in the department of obstetrics and gynecology at UCLA Ronald Reagan Hospital, tells SELF.
If a patient's testing reveals that they are BRCA-positive, Dr. Memarzadeh says she'll refer the patient to other specialists to keep an eye out for other BRCA-related cancers, including pancreatic cancer and melanoma. A positive result could also potentially have health implications for their family, so it may be recommended for them to get tested as well. Your BRCA status could impact your treatment, too, which we'll get to in a bit.
If you know you have a BRCA mutation but haven't been diagnosed with cancer, your doctor will suggest more frequent cancer screenings.
In some cases, things go the other way around: Patients without an ovarian cancer diagnosis find out that they're BRCA-positive (possibly via testing related to a breast cancer diagnosis) and are referred to a gynecologic cancer specialist to monitor them for ovarian cancer, Pamela T. Soliman, M.D., M.P.H., professor and center medical director of the department of gynecologic oncology and reproductive medicine, division of surgery, at the University of Texas MD Anderson Cancer Center, tells SELF.
In that case, your doctor may suggest increased screening for ovarian cancer (likely with a transvaginal ultrasound and blood testing for CA-125, a protein that's often found on the surface of ovarian cancer cells) every six months, Dr. Soliman says. However, as SELF explained previously, these measures aren't perfect. So the most important thing is to be in contact with a health professional who can help you figure out what makes the most sense for your individual circumstances.
If you know you're at a high risk for ovarian cancer, your doctor might recommend preventive surgery once you're done having children. Traditionally, this meant removing the ovaries and the fallopian tubes (a procedure called a bilateral salpingo-oophorectomy), which then sends the patient into menopause, Dr. Memarzadeh explains. But we know that many epithelial ovarian cancers (the most common type, by far) actually begin in the fallopian tubes, not the ovaries. So, some patients are given the option to do the procedure in stages, starting with the removal of the fallopian tubes (which doesn't force a patient into menopause) and then progressing to the ovaries later. This isn't standard practice yet, Dr. Soliman says, but it may become more standard in the years to come.
Having a BRCA mutation may impact the type of ovarian cancer treatment you get.
In general, treatment for ovarian cancer requires a combination of chemotherapy and surgery, the Mayo Clinic says. For epithelial cancer, surgical treatment usually involves removing the uterus (a hysterectomy), ovaries, and fallopian tubes, although these may be done at different times in order to see where the cancer has spread. Other treatment options include hormone therapy and various other targeted therapies.
If you have a BRCA mutation, you may be a good candidate for one type of targeted therapy in particular: a poly(ADP)-ribose polymerase (PARP) inhibitor, a relatively new type of treatment that exploits a specific vulnerability in the way the DNA of the tumor replicates and repairs itself, Dr. Soliman explains. Cancer cells that form in patients who are BRCA-positive also have mutations related to BRCA genes, which normally help repair DNA but aren't functional in these cells. (BRCA-like mutations can also spontaneously form in people who aren't BRCA-positive, but that process isn't well understood.)
And that's where PARP comes in: PARP is an enzyme that also normally helps DNA repair itself, which is usually a good thing. But when it comes to cancer cells, it's not so helpful. So, blocking PARP—in addition to the already-present BRCA mutation—can prevent these cells from repairing themselves when damaged. With only one issue or the other (related to BRCA or PARP), the cancer cells would still be able to repair themselves. But without either one, they're vulnerable and ultimately die. This technique of targeting both repair methods is referred to as "synthetic lethality."
Unlike chemotherapy, these drugs are taken orally and can be used for either treating an active cancer, Dr. Memarzadeh says, or for maintenance (meaning after a patient has had a recurrence and been treated with chemotherapy again). "That’s completely changed how we treat patients who have a BRCA mutation," Dr. Soliman says.
Your BRCA status is only one factor in your treatment, but it can have a huge impact on you—and your family.
Having a BRCA mutation is an important factor in deciding the right treatment plan, but it isn't the only thing doctors take into account. Aside from your family and personal histories of cancer, Dr. Soliman says it's crucial to be aware of a patient's overall health and ability to tolerate these treatments.
Chemotherapy and surgery can come with serious side effects, even when they work as intended. And PARP inhibitors, even though they're taken orally, can come with familiar side effects like nausea and fatigue. "We have to take those into consideration as well," she says.
But knowing your BRCA status, especially if you've been diagnosed or have a family history of ovarian cancer, can make a huge difference in your treatment. "Genetic testing not only has implications for the rest of [your] body but also for [your] family members," Dr. Memarzadeh says. "It can now also impact treatment planning, so it's really important information for patients to have."