Ovarian Cancer Genetic Testing

By Temma Ehrenfeld @temmaehrenfeld
June 06, 2023
Ovarian Cancer Genetic Testing

Scientists have zeroed in on the genetic mutations that are linked to ovarian cancer. Not all women need to take these tests, however. Here’s what you should know.

Who is at risk for ovarian cancer?

Some women are at higher risk of ovarian cancer than others but not dramatically, and every woman doesn’t need a genetic test.

They might have a history of endometriosis, taking hormones for menopause, or using fertility drugs. You can still fall into this only-slightly-higher-risk group if you’ve had breast cancer — if it was diagnosed in your 40s or later and you have no family risk factors. According to the ovarian cancer screening guidelines of the U.S. Preventative Services Task Force, women in this group don’t need more than the usual annual visit to a gynecologist who will examine your pelvis.


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Circumstances that suggest you might have a genetic mutation

Think about getting ovarian cancer genetic testing if:

  • You’ve had breast cancer under the age of 40.
  • Your mother, sister, or daughter has had ovarian cancer.
  • You’ve had breast cancer and so has a relative.
  • You are of Ashkenazi Jewish heritage — meaning your Jewish parents came from Eastern Europe — and you have had breast cancer under the age of 50.

Ovarian cancer genetic testing

Genetic risk doesn’t cause most ovarian cancers. The American Cancer Society reports that only about 5 to 10 percent of ovarian cancers arise from inherited genetic mutations.

The test looks for a mutation in the BRCA1 or BRCA2 genes, which govern proteins that repair damage to DNA that occurs naturally as you age. The most common types of cancers associated with BRCA alterations are breast and ovarian cancer, but they are also linked to prostate and pancreatic cancer.

Ovarian cancer genetic testing also checks for a mutation in the mismatch repair genes MLH1, MSH2, and MSH6, which are all associated with a hereditary cancer syndrome known as hereditary non-polyposis colon cancer (HNPCC)/Lynch syndrome.

You can inherit those mutations from either parent, not just your mother, as many women assume.

The BRCA1 mutation may raise your lifetime risk of ovarian cancer as high as 70 percent. The BRCA2 mutation raises your risk of developing the disease by age 70 to 10 to 30 percent.

Testing for ovarian cancer

Genetic testing will help your doctors decide how to monitor you for ovarian cancer over time. Various tests can look for ovarian cancer, though they aren’t ideal. Two — a transvaginal ultrasound and a blood test, checking for elevated levels of the protein CA-125 — are backed by the most science. More than 90 percent of advanced epithelial ovarian cancers, the most common type of ovarian cancer, produce CA-125, and you may live longer if the test detects your cancer.

On the other hand, you are no less likely to die of the disease. CA-125 also seems to be elevated in two to three percent of normal post-menopausal women, so taking this blood test regularly puts you at risk of a cancer scare even if you are fine.

Transvaginal ultrasound seems to be successful at catching stage 1 ovarian cancers, though it’s not as easy to catch those that are likely to grow quickly.

Despite such disadvantages, women with mutations in BRCA1 or the mismatch repair genes should start both screening methods between ages 30 and 35. Women with mutations in BRCA2 can start testing between ages 35 and 40.

But because the tests produce both false-positive and false-negative results, women who carry the genetic mutations and don’t want more children should consider having their ovaries and fallopian tubes removed, thus dramatically lowering their risk.


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June 06, 2023

Reviewed By:  

Janet O’Dell