What Is Ovarian Cancer Genetic Testing?

Reviewed by: HU Medical Review Board | Last reviewed: May 2021

Genetic testing is a blood test that looks for changes or mutations in certain genes that are known to increase the risk of developing certain diseases or conditions. This includes conditions like ovarian cancer and breast cancer.

One out of every 4 women with ovarian cancer has a hereditary mutation. Getting genetic testing, either before or after diagnosis, can shape health screenings, treatment choices, and impact families and their knowledge of their larger health risks.1

If you have a family history of ovarian cancer or related diseases, genetic testing can also give your doctor a better idea of your overall health and risk factors.

When is genetic testing recommended for ovarian cancer?

Before you have genetic testing, your doctor will likely recommend genetic counseling. This is when you sit down with a genetic counselor to determine whether you and your family are likely to have a mutation that is worth getting tested for.2

For ovarian and breast cancers, genetic testing is usually recommended if you have:2

  • A strong family history of breast and ovarian cancer
  • A moderate family history of breast and ovarian cancer and have ancestry that is either Ashkenazi Jewish or Eastern European
  • A personal history of breast cancer and meet certain criteria based on various things like age at diagnosis, health history, and a previous cancer diagnosis
  • Personal history of ovarian, fallopian tube, or primary peritoneal cancer
  • A known BRCA1, BRCA2, or other inherited mutation in your family

Genetic tests that may be done for ovarian cancer

Genetic testing for ovarian cancer includes evaluating for BRCA1 or BRCA2 mutations. This is because these genes are the most commonly affected ones in hereditary breast and ovarian cancers.2

If you have Eastern European or Ashkenazi Jewish heritage, your doctor might want to test for 3 specific BRCA1 and BRCA2 mutations called founder mutations. Women with a mutation in either of these genes have up to a 60 percent chance of developing ovarian cancer.1,3

You may also have genetic testing to see whether you have Lynch syndrome. This condition is also known as hereditary nonpolyposis colorectal cancer (HNPCC). Testing for Lynch syndrome looks at different genes, including the MLH1, MSH2, and MSH6 genes.3

Women who have a change in one of these genes have a 9 to 12 percent increased risk of developing ovarian cancer. These mutations also increase the risk of developing other cancers, including uterine and colon cancers.3

What comes after getting genetic testing results?

After genetic testing is done, more genetic counseling should take place. This is important in helping you to understand the results and their impact and what this means for future choices for you and your family.

Your healthcare team will also discuss the results with you and what this may mean for your treatment. For instance, some drugs known as PARP inhibitors work on ovarian cancer with specific genetic mutations. If your results also show that you are a risk for other types of cancer, your healthcare team will also talk about ways to monitor you for those.1

Things to consider

Deciding to have genetic testing is a major decision and should be done with the help of a trained genetic counselor. They will be able to explain to you in detail what your specific results mean and things you and your family should think about next. They will also be able to provide resources for emotional support. Your treatment team can work with your genetic counselor to provide you with the best care, support, and treatment.

If you have questions about genetic testing, ask your doctor whether it is right for you and how it can fit into your larger treatment plan.

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