Guidelines for genetic testing in people diagnosed with prostate cancer

Up to 10% of prostate cancers are caused by an inherited mutation. There are national guidelines that outline which men with prostate cancer should have genetic counseling and testing for an inherited mutation. Men with prostate cancer, should speak with a genetics expert about genetic testing if they have any of the following:

• a tumor test result suggests an inherited mutation (for example, a BRCA1, BRCA2 or ATM mutation in the tumor that may indicate an inherited mutation in one of those genes). 
• a blood relative who tested positive for an inherited mutation in a gene linked to prostate cancer.
• metastic prostate cancer diagnosed at any age.
• cancer that is categorized as very-high- or high-risk based on pathology.
• also diagnosed with male breast cancer.
• Eastern European (Ashkenazi) Jewish ancestry. 
• one or more first-, second-, or third-degree relatives diagnosed with breast cancer at age 50 or younger, or triple-negative breast cancer, ovarian, pancreatic, male breast cancer, metastatic prostate cancer at any age.
• two or more close relatives diagnosed with breast or prostate cancer at any age.

Men with the following are unlikely to have an inherited mutation:

• diagnosed with localized prostate cancer with a gleason score of <7 and:
  • no prior history of breast or pancreatic cancer
  • no first-,second-, or third-degree relative who was diagnosed with breast, ovarian, pancreatic or prostate cancer.  

Other people who may benefit from genetic counseling and testing

You may benefit from additional genetic counseling and expanded genetic testing if you:

• you have intermediate-risk prostate cancer with intraductal/cribriform histology
• had genetic testing in the past, you tested negative, and the following applies to you:
  • you had a test that only looked for one or a few genes, or 
  • you had genetic testing before 2014. Genetic testing has improved, and laboratories can now find gene mutations that may have previously been missed.

Prostate cancer survivors and those in treatment should speak with a genetics expert to see if testing is right for them. 

Guidelines for genetic testing for relatives of people who have been diagnosed with prostate cancer

Genetic counseling and testing is also recommended for anyone with a first-degree or second-degree relative who has been diagnosed with metastatic or high-grade prostate cancer. 

See our sections Testing Guidelines by Cancer Type and Genetic Testing for People Who Have Never Been Diagnosed with Cancer for additional guideline information.