Understanding Genetic Mutations and Biomarkers in Ovarian Cancer

*Please note: This slide show is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always consult your doctor about any questions you may have regarding a medical condition.

About ovarian cancer

The ovaries are the organs in a woman's reproductive system that store eggs and make female hormones.

Ovarian cancer is cancer that starts in the ovaries, fallopian tubes, or the tissue that lines the abdominal cavity around them, called the peritoneum.

More about ovarian cancer

Ovarian cancer causes few or no symptoms in the early stages, when it is most treatable. This means it may not be found until a later stage, when it has spread outside the ovaries.

This can lead to a worse outlook than for other cancers.

Gene changes and ovarian cancer

Ovarian cancer is sometimes part of an inherited cancer syndrome. This is when changes, or mutations, happen in a gene and can be passed from parent to child. These changes can cause cancer.

Family members with this syndrome have a higher risk of certain cancers than the general population.

Inherited cancer syndromes and ovarian cancer

The most commonly-inherited cancer syndromes related to ovarian cancer are hereditary breast-ovarian cancer syndrome (HBOC) and Lynch syndrome.

Close to one-quarter of women with ovarian cancer have one of these syndromes.

Hereditary breast-ovarian cancer syndrome (HBOC) and ovarian cancer

The best-known gene mutations in those with HBOC are BRCA1 and BRCA2.

Having a BRCA1 mutation means you have a 35 to 70 percent risk of ovarian cancer, and a BRCA2 mutation means your risk is 10 to 30 percent.

Other HBOC mutations can raise your risk.

Without a mutation, the risk of ovarian cancer is less than 2 percent.

Lynch syndrome and ovarian cancer

The other inherited cancer syndrome that may cause ovarian cancer, among others, is Lynch syndrome.

It is caused by mutations in 5 different genes. The risk of getting ovarian cancer is usually greater than in the general population, but may not be as high as with HBOC.

Why should I learn about my mutations in ovarian cancer?

Knowing if you have HBOC, Lynch syndrome, or other gene mutations that may raise your ovarian cancer risk can help you and your doctor understand your risk and decide on the best plan to address your risk and if needed, plan treatment.

It can also help family members learn about their risk of ovarian and other cancers.

How do I know if I have a mutation?

Gene mutations are found by a process called genetic testing. A medical laboratory tests a sample of blood, saliva, or tissue for mutations.

Before having genetic testing, you should talk with a genetic counselor. They help you decide how to use the results of your tests, including who to tell, who else should have testing, and what treatment or risk reduction options are right for you.

Benefits of genetic testing in ovarian cancer

Genetic testing may help you and your family.

Today, doctors use genetic information to select the most effective cancer treatments.

PARP inhibitors, immunotherapy, and chemotherapy are some of the treatment options available.

Are mutations in ovarian cancer always inherited?

Not all gene mutations are inherited from parents. Some develop on their own over time. These mutations include TP53, PTEN, and PALB2, among others.

How mutations and proteins are “markers” for cancer

Finding genetic mutations and other substances, like proteins, that suggest the presence of ovarian cancer is helpful in deciding which treatment to use and when.

We call these mutations and other substances biomarkers.

Biomarkers for ovarian cancer include CA-125, HRD, bikunin, VEGF, and more.

Why biomarker testing is important for ovarian cancer

Testing for biomarkers can help us learn how your cancer behaves. It may help predict how fast the cancer will grow, and even more importantly, which treatments may work best.

Why biomarker testing is important for ovarian cancer

The results of genetic testing and other biomarker testing may help your doctor select the best options for your treatment, to ensure the most positive outlook possible.

Talk with your doctor to discuss whether biomarker testing should be part of your cancer care.

References

1. U.S. Centers for Disease Control and Prevention. Basic information about ovarian cancer. Last Revised: March 15, 2021.
   https://www.cdc.gov/cancer/ovarian/basic_info/index.htm
2. American Cancer Society. Key statistics for ovarian cancer. Last Revised: January 12, 2022.
   https://www.cancer.org/cancer/ovarian-cancer/about/key-statistics.html
3. Kandola A. Ovarian cancer: Genetics, risk factors, and screening. Medical News Today. Last Revised: January 30, 2022.
   https://www.medicalnewstoday.com/articles/ovarian-cancer-genetics
4. American Cancer Society. Ovarian cancer risk factors. Last Revised: January 26, 2021.
   https://www.cancer.org/cancer/ovarian-cancer/causes-risks-prevention/risk-factors.html
5. Ovacome Ovarian Cancer. Lynch syndrome and ovarian cancer. Last Revised: October 2019.
   https://www.ovacome.org.uk/lynch-syndrome-and-ovarian-cancer
6. Atallah GA, Abd. Aziz NH, Teik CK, Shafiee MN, Kampan NC. New predictive biomarkers for ovarian cancer. Diagnostics (Basel). 2021;11(3):465.