Being diagnosed with ovarian cancer can feel overwhelming but understanding the role of genetic and biomarker tumor testing in ovarian cancer treatment can make a difference. Today, your treatment plan can be personalized to you through the use of genetic and biomarker tumor testing. These tests provide critical information about your cancer, guiding your healthcare team to choose the most effective therapies and potentially opening doors to clinical trials.
The role of genetic testing in ovarian cancer
Genetic testing plays an important role in understanding the underlying factors of ovarian cancer and tailoring treatment to your specific needs. There are two primary types of genetic testing that can provide valuable insights: germline genetic testing and somatic genetic testing.
Informative Video - How is biomarker testing done and what biomarkers are looked at when deciding on treatment for ovarian cancer?
Dr. Jayathi Lea of the University of Texas Southwestern Medical Center explains that laboratory tests can find ovarian cancer biomarkers including CA125, HRD, bikunin, VEGF, and more. She discusses the importance of early tumor or biomarker testing, when and why it should be repeated, and how it can improve outcomes by helping doctors choose the best treatment for the type of ovarian cancer.
Genetic testing for an inherited mutation (germline genetic testing)
Germline genetic testing is essential for all patients diagnosed with ovarian, fallopian tube, or primary peritoneal cancer. This test examines your DNA for inherited mutations, such as BRCA1 or BRCA2, which could have been passed down from a parent. Identifying these mutations is not only vital for tailoring your treatment but also for informing your family members about their potential cancer risks.
Current guidelines recommend that germline genetic testing be done at the time of initial diagnosis. Speaking with a genetic counselor before testing can help you understand the implications, including potential impacts on your family, privacy concerns, and if additional medical tests may be needed. Your healthcare provider can refer you to a genetic counselor who will guide you through this process.
Genetic testing of the tumor (somatic genetic testing)
In addition to inherited mutations, the tumor itself can develop mutations over time, known as somatic mutations. Testing for these mutations is important for those with recurrent ovarian, fallopian tube, or primary peritoneal cancer. Somatic genetic testing analyzes the DNA of the tumor to uncover these mutations, which can be targeted by specific treatments.
For example, if your tumor has a BRCA mutation, PARP inhibitors like Lynparza (olaparib) or Rubraca (rucaparib) may be particularly effective. This testing can be performed on tumor tissue samples collected during surgery or biopsy.
Biomarker tumor testing: customizing treatment based on tumor characteristics
Biomarker tumor testing is another crucial step in personalizing your ovarian cancer treatment. This testing looks at specific characteristics of the tumor, such as genes or proteins, to determine the best targeted therapies for your type of cancer. By gathering as much information as possible about your tumor, your doctors can prescribe treatments that are tailored to your cancer’s unique profile.
Key biomarkers and their associated treatments:
- BRCA1/BRCA2 Mutations: Tumors with these mutations may respond well to PARP inhibitors such as Lynparza (olaparib), Rubraca (rucaparib), or Zejula (niraparib).
- HRD (Homologous Recombination Deficiency): If your tumor is HRD positive, you might respond to PARP inhibitors or other targeted treatments like Avastin (bevacizumab).
- CA-125: This biomarker is used to monitor your response to treatment and to detect any recurrence of the cancer.
- HER2 Overexpression: Tumors that overexpress HER2 may benefit from targeted therapies such as Trastuzumab deruxtecan (T-DXd).
- Folate Receptor Alpha (FRa): High levels of FRa in your tumor may indicate that treatments like Elahere (mirvetuximab soravtansine) could be effective.
- ER/PR (Estrogen/Progesterone) Positive Tumors: Hormone therapies such as tamoxifen (Nolvadex) or letrozole (Femara) may be suitable for these types of tumors.
Understanding these biomarkers allows your healthcare team to choose the most effective treatments, potentially improving your outcomes and quality of life.
Patient Video - Angie’s story: How did genetic testing and biomarker testing impact the treatment of your ovarian cancer?
Angie describes the impact her genetic testing and biomarker testing had on her ovarian cancer treatment. The testing helped to identify specific PARP inhibitor treatment for her BRCA-negative status.
Tumor testing and clinical trials: expanding your treatment options
Tumor testing doesn’t just guide existing treatment options—it can also open up opportunities to participate in clinical trials. These trials provide access to innovative therapies that are still in development, offering hope for patients who might not respond to current treatments. By identifying specific mutations and biomarkers through tumor testing, you may qualify for these cutting-edge treatments.
Whether it’s an FDA-approved therapy or a promising new treatment being tested in a clinical trial, biomarker and tumor testing are key to finding the most effective options for your unique cancer.
NOCC’s programs and resources
At the National Ovarian Cancer Coalition, we understand how overwhelming an ovarian cancer diagnosis can be. That’s why we offer a range of resources and support services to help you and your loved ones navigate this journey.
Programs and Resources
Explore comprehensive resources, services, and programs for those with ovarian cancer and their caregivers.
Medically reviewed and updated | August, 2024
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