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Ovarian Cancer Genetic Testing Experiences

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By Editorial Team

3 min read

When you are facing an ovarian cancer diagnosis, your health team will ask you many questions. Some of those questions will relate to your family history and genetics.

We recently conducted the 2nd Ovarian Cancer In America Survey. We wanted to learn more about the community's experiences with genetic testing, so the survey included several questions about it. But before we get into the survey results, it may be helpful to understand why doctors recommend these tests.

Family history

One of the biggest predictors of ovarian cancer is a family history of the condition. You have about a 5 percent risk of developing ovarian cancer in your lifetime if an immediate relative has had ovarian cancer. This is compared to only a 1.4 percent risk for the general population.1

Immediate relatives include your mother, grandmother, daughter, or sister. This increased risk comes whether or not you have specific changes in your genes (genetic mutations) that have been linked to ovarian cancer.1

Other cancers in your family also can raise your risk for ovarian cancer. A family history of breast, colon, rectal, or uterine cancer increases your risk of developing ovarian cancer.1

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Genetic testing

Certain genetic mutations make it more likely that a person will develop ovarian cancer. So, doctors may recommend genetic testing for those with a family history of ovarian or breast cancer. Around one-fourth of people diagnosed with ovarian cancer have a genetic mutation that has been passed down through their family.1

According to the 2022 Ovarian Cancer In American Survey:

  • 60 percent of respondents feel their doctor helped them understand the role of genetic testing.
  • 66 percent understand how genetic testing affects treatment decisions.
  • 76 percent feel there should be better education about genetic testing.
  • 77 percent think that testing for genetic mutations is valuable.

What do positive and negative results mean?

The results of genetic testing may be positive or negative. A positive test indicates that you have certain genetic mutations that have been linked to ovarian cancer. Positive tests can help inform your prevention and treatment decisions. Removing the ovaries and fallopian tubes are one possible preventative measure.3

A positive test means that your immediate family has about a 50 percent chance of having the same mutation. If your genetic test comes back positive, other family members should be tested for the same mutation.3

When results are negative, the genetic test did not find any genetic mutations related to ovarian cancer. This does not mean that you do not have a family history risk. A negative test means only that the genes it looked at did not have a mutation. You may have a mutation in one or more genes that were not tested.3

Or you may not have an inherited genetic mutation for ovarian cancer. Not all family cancer history is due to an inherited genetic mutation. In fact, only about 20 to 25 percent of women who develop ovarian cancer have an inherited risk.1,3

Which genes do doctors test for?

The most frequently tested genes are breast cancer 1 (BRCA1) and breast cancer 2 (BRCA2). Between 10 and 15 percent of ovarian cancer cases are from BRCA1 and BRCA2 mutations. Typically, these genes protect against certain cancers. But if a mutation occurs, the genes do not function properly. This increases the risk of breast and ovarian cancer.1,3

You inherit BRCA1 and BRCA2 mutations from your parents. Other family members are likely to have the same mutations. These mutations are about 10 times more common in women of Ashkenazi Jewish heritage than in other women.1,3

The In America Survey asked participants which gene mutations they had.

  • 8 percent tested positive for BRCA1.
  • 9 percent tested positive for BRCA2.
  • 19 percent did not know or were unsure of their mutation.
  • 42 percent did not test positive for any of the mutations listed in the survey.

People with a BRCA1 mutation have a 35 to 70 percent chance of an ovarian cancer diagnosis. Those with a BRCA2 mutation have a 10 to 30 percent chance of an ovarian cancer diagnosis before age 70. The risk to those without BRCA mutations is less than 2 percent.2

Talk to your doctor about your genetic testing options. If you do engage in testing, meet with a genetic counselor to help you fully understand the results.1-3

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