When you’re diagnosed with ovarian cancer, your care team needs detailed information about your tumor to create a personalized treatment plan. This includes genetic testing and biomarker testing, which provide key insights that guide treatment decisions. Understanding what these tests are and why they matter can help you feel more confident as you navigate your care.

How testing is typically done

Testing usually involves a simple blood draw, tissue biopsy, saliva sample, or a combination. These tests are routine steps in helping your care team determine the most effective treatment strategy for your situation.

The difference between genetic testing and biomarker testing

It’s important to understand the difference between genetic testing and biomarker testing and how they both influence your treatment options.

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• Genetic testing looks for inherited gene changes that you may have received from a parent. About 1 in 6 ovarian cancers is caused by inherited gene mutations, most commonly in BRCA1, BRCA2, or genes associated with Lynch syndrome. The NCCN Guidelines recommend genetic testing for all patients with ovarian cancer. Knowing your genetic status can help your care team choose the best treatment and can provide important information for family members who may also carry these gene changes.
  
  
• Biomarker testing looks for changes that happen in the tumor itself, which are called somatic mutations. Some of these changes, like BRCA mutations, may appear in the tumor even if they were not inherited. These mutations are part of a group called homologous recombination deficiencies (HRD), which can make certain therapies, such as PARP inhibitors, more effective. This testing is especially important for guiding initial treatment decisions.
  
  

Additional biomarkers your care team may test for

Depending on your diagnosis, your care team may also look for other biomarkers, particularly if your cancer comes back or does not respond to initial treatment. These biomarkers can open the door to targeted therapies or clinical trial opportunities. Here are some of the commonly tested biomarkers that expert guidelines recommend:

• Microsatellite instability (MSI): This indicates that the cancer cells have difficulty repairing certain types of DNA damage. MSI can sometimes suggest a hereditary cancer syndrome and may make you eligible for specific immunotherapies.
• Mismatch repair (MMR): MMR testing checks if the cells can properly fix DNA mistakes. Like MSI, problems with MMR may point to inherited syndromes and influence immunotherapy treatment options.
• HER2 expression: This measures whether the HER2 protein is overproduced on cancer cells. HER2-positive cancers may respond to drugs that specifically target this protein.
• Tumor mutational burden (TMB): TMB measures the number of mutations in a tumor’s DNA. Tumors with a high TMB may respond better to immunotherapy.
• BRAF V600E mutation: This gene change can drive cancer growth. Targeted therapies are available that specifically block the effects of this mutation.
• Folate receptor alpha expression: Some ovarian cancers have high levels of this protein, which can make certain targeted therapies more effective.
• RET mutations: Changes in the RET gene can promote tumor growth, and targeted RET inhibitors may help patients with these mutations.
  NTRK gene fusions: These rare changes fuse part of one gene to another, which can drive cancer growth. There are highly effective targeted therapies for tumors with NTRK fusions.

Why testing matters

Genetic and biomarker testing are crucial tools in ovarian cancer care. They not only guide the best treatment choices but can also help identify clinical trial opportunities and provide important information for your family. By understanding your cancer at the genetic and molecular level, your care team can create a more personalized and effective treatment plan.

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