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If you have ovarian cancer, your care team may recommend BRCA testing. About 10 percent to 15 percent of women with ovarian cancer have an inherited change in a BRCA gene.
BRCA testing can look for inherited genetic changes in a blood or saliva sample or changes in cancer cells through tumor testing. The results can help your care team learn more about your cancer and determine whether certain targeted therapies may be treatment options.
Here’s what to know about the BRCA genes, who should get BRCA gene testing after an ovarian cancer diagnosis, and what being BRCA-positive may mean for your treatment plan.
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BRCA1 and BRCA2 are genes that help cells repair damaged DNA. When either gene has a harmful mutation (gene change), this important repair process may not work as it should.
Some BRCA gene mutations are germline, meaning they are inherited from a parent and found in nearly every cell in the body. Germline BRCA1 and BRCA2 mutations are linked to ovarian cancer as well as breast cancer, pancreatic cancer, prostate cancer, fallopian tube cancer, and primary peritoneal cancer.
A BRCA mutation can also be somatic, meaning the change developed in the tumor rather than being inherited. Tumor testing can detect BRCA changes that might not be found by a saliva or blood test alone.
Inherited BRCA mutations raise your risk for developing ovarian cancer, which helps explain why BRCA testing can be an important part of understanding the disease.
The National Cancer Institute estimates that women with a harmful BRCA1 variant may have about a 39 percent to 58 percent lifetime risk of ovarian, fallopian tube, or primary peritoneal cancer. The estimated lifetime risk with a harmful BRCA2 variant is about 13 percent to 29 percent.
Because inherited BRCA mutations are passed on to children, they may also affect family members. When someone has a harmful inherited BRCA mutation, each parent, sibling, and child has a 50 percent chance of having the same mutation.
BRCA status is a biomarker that provides information about the cancer’s genetic makeup. BRCA status can help doctors understand how your cancer may behave and whether it might respond to certain treatments.
Research has found differences in outcomes among people with BRCA-mutated ovarian cancer, although the exact effect on prognosis can vary.
Most importantly for treatment planning, BRCA-mutated cancer cells have trouble repairing DNA damage. This makes targeted drugs called poly(ADP-ribose) polymerase (PARP) inhibitors especially useful for treating these cancers. PARP inhibitors block another pathway cancer cells use to repair DNA.
BRCA testing may be an important part of care for people with ovarian cancer, even if they don’t have a known family history of cancer.
Guidelines from the American Society of Clinical Oncology recommend germline BRCA genetic testing for BRCA1, BRCA2, and other genes linked to ovarian cancer for all women diagnosed with epithelial ovarian cancer. If no inherited BRCA mutation is found, the tumor cells should also be tested for somatic BRCA mutations.
An inherited BRCA mutation, also called a germline mutation, can affect your treatment options and your family members’ cancer risk. A mutation found only in the tumor isn’t inherited, but it can still help doctors choose the best treatment.
Genetic counseling can help you understand your testing options and what the results may mean for you and your family. A genetic counselor or another healthcare professional with expertise in hereditary cancer can help guide these conversations.
A positive test result can help your care team determine which treatments may be a good fit. Doctors may recommend PARP inhibitors.
Your exact treatment options will depend on other factors, including which treatments you’ve tried and how your cancer has responded to them.
PARP inhibitors block an enzyme that helps cells repair damaged DNA. Because BRCA-mutated cancer cells already have trouble repairing DNA, blocking PARP can make repair even more difficult and cause cancer cells to die.
According to the Society of Gynecologic Oncology, PARP inhibitors are most effective against ovarian cancers with BRCA mutations or homologous recombination deficiency (HRD), a condition that makes it harder for cells to repair damaged DNA.
PARP inhibitors may be used as maintenance treatment to help keep ovarian cancer from getting worse or coming back after chemotherapy has worked. Three PARP inhibitors used to treat ovarian cancer are:
On its own, being BRCA positive doesn’t determine whether immunotherapy or other targeted therapies are an option. Testing for other biomarkers, such as folate receptor alpha, may help your doctor decide whether treatments outside of PARP inhibitors could be appropriate.
A BRCA test is one piece of information your care team may use to build your treatment plan. Treatment for ovarian cancer depends on several factors including the cancer type, stage, and other individual considerations.
A negative BRCA test result means that testing didn’t find a harmful mutation in BRCA1 or BRCA2 genes. However, BRCA mutations are not the only genetic changes that can be involved in ovarian cancer, and other inherited gene mutations may also play a role.
If germline testing doesn’t find an inherited BRCA mutation, guidelines recommend testing tumor cells for somatic BRCA mutations that may be found only in the cancer cells.
Your care team can help explain what your negative test result means and whether other genetic or biomarker test results may help guide your treatment.
If you have ovarian cancer and haven’t had BRCA gene testing, ask your oncologist whether testing should be part of your care and whether meeting with a genetic counselor could help you understand your testing options and results.
Your BRCA results may help guide treatment decisions, including whether a PARP inhibitor could be an option. If an inherited BRCA mutation is found, the result can also give your biological relatives information they can discuss with their own healthcare providers.
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