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Ovarian Cancer: Genetic Testing for Inherited Mutations

Learn about genetic testing and the genes associated with hereditary ovarian cancer.

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People with ovarian cancer should ask about genetic testing

Up to 20% of people diagnosed with ovarian cancer have an that caused their cancer. There are national guidelines that outline who should consider genetic counseling and testing for an  linked to cancer. Speak with an expert about genetic testing for the following situations.

Guidelines for genetic testing for people diagnosed with ovarian cancer

Experts recommend all people diagnosed with , ovarian or primary peritoneal cancer at any age have genetic counseling and testing. About 1 out of 4 women diagnosed with one of these cancers will test positive for an

Other ovarian cancer survivors who may benefit from genetic counseling and testing

People diagnosed with ovarian cancer may benefit from additional genetic counseling and expanded genetic testing if they had genetic testing in the past, tested negative, and:

  • they had a test that only looked for one or a few genes, or 
  • they had genetic testing before 2014. Genetic testing has improved, and laboratories can now find gene mutations that may have previously been missed.

All ovarian cancer survivors and those in treatment should speak with a genetics expert to decide if genetic testing is right for them.

Relatives of people who have been diagnosed with ovarian cancer may also benefit from testing

Genetic counseling and testing is also recommended for anyone with a 1st-degree or 2nd-degree relative who has been diagnosed with any of these cancers at any age. 

Genes linked to ovarian cancer

Mutations in the following genes have been linked to increased risk for ovarian cancer.

Genes Linked to Ovarian, Fallopian Tube and Primary Peritoneal Cancer

ATM, BRCA1, BRCA2, BRIP1, EPCAM, MLH1, MSH2, MSH6, PALB2, PMS2*, RAD51C, RAD51D

*More research is needed to confirm a link between an inherited mutation in PMS2 and increased risk for ovarian cancer.

Last updated July 23, 2024