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Prostate Cancer: Genetic Testing for Inherited Mutations

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

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

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 cancer have an that caused their cancer.

Genetic test results may affect your cancer treatment and prognosis.

  • In addition to increasing lifetime risk for cancer, , (and possibly other genes) have been linked to more aggressive,  disease.
  • People with mCRPC who test positive for an may benefit from targeted or  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 , 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 .   

Genetic testing guidelines for people diagnosed with cancer

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

  • you had tumor testing which found a mutation that may be an  (for example, if your tumor test found a , or mutation in your cancer). 
  • you were diagnosed with metastic cancer at any age.
  • your 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 cancer and any of the following:

  • you have a blood relative who tested positive for an  in a gene linked to 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 prostate cancer at any age.
  • three or more close blood relatives on the same side of the family (including the patient with cancer) who have been diagnosed with:
    • breast cancer or cancer.
    • cancers associated with , 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 cancer at age 55 or younger, or
  • you were diagnosed with intermediate-risk 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  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 or high-grade  cancer. 

Genes linked to cancer

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

Genes Linked to Prostate Cancer

ATM, BRCA1, BRCA2, CHEK2, EPCAM, HOXB13, MLH1, MSH2, MSH6, PMS2*

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

Last updated August 14, 2024