Prostate Cancer: Genetic Testing for Inherited Mutations

This section covers the following:

People with prostate cancer should talk with their doctor about genetic testing.

Prostate cancer survivors and those in treatment should speak with a genetics expert to decide if genetic testing is right for them. About 10% of people diagnosed with prostate cancer have an inherited mutation that caused their cancer.

Genetic test results may affect your prostate cancer treatment and prognosis.

• In addition to increasing lifetime risk for prostate cancer, BRCA1, BRCA2 (and possibly other genes) have been linked to more aggressive, metastatic disease.
• People with mCRPC who test positive for an inherited mutation may benefit from targeted or immunotherapy to treat their cancer.

Genetic test results may help you and your relatives understand the risk for cancer and take action to stay healthy.

• If you test positive for an inherited mutation, you may have an increased risk for other cancers.
• Expert guidelines outline cancer screening and prevention options for people at high risk for cancer due to an inherited mutation.   

Genetic testing guidelines for people diagnosed with prostate cancer

Experts recommend genetic counseling and testing if you have prostate cancer and any of the following applies to you:

• you had tumor testing which found a mutation that may be an inherited mutation (for example, if your tumor test found a BRCA1, BRCA2 or ATM mutation in your cancer). 
• you were diagnosed with metastic prostate cancer at any age.
• your prostate cancer is considered very-high or high-risk based on pathology.
• you also have been diagnosed with breast cancer.
• You are Eastern European Jewish or have Jewish ancestry. 

Experts also recommend genetic counseling and testing if you have prostate cancer and any of the following:

• you have a blood relative who tested positive for an inherited mutation in a gene linked to prostate cancer.
• any 1st-, 2nd-, or 3rd-degree relative on the same side of the family who has been diagnosed with:
  • breast, colorectal or endometrial cancer at age 50 or younger.
  • triple-negative breast, ovarian, pancreatic, male breast cancer, or metastatic prostate cancer at any age.
• three or more close blood relatives on the same side of the family (including the patient with prostate cancer) who have been diagnosed with:
  • breast cancer or prostate cancer.
  • cancers associated with Lynch syndrome, including: colorectal, endometrial, gastric, melanoma, urothelial, glioblastoma, biliary tract, or small intestinal cancers.

You may also consider genetic counseling and testing if:

• you were diagnosed with prostate cancer at age 55 or younger, or
• you were diagnosed with intermediate-risk prostate cancer with a finding known as intraductal/cribriform histology

If you had genetic testing in the past and tested negative, you may benefit from additional testing:

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

Relatives of people who have been diagnosed with prostate 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 metastatic or high-grade prostate cancer. 

Genes linked to prostate cancer

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