Should You Get Genetic Testing For Inherited Mutations?

Dr. Brian Lawenda discusses the importance of genetic testing to identify whether prostate cancer patients might be carrying a hereditary mutation that is associated with a higher risk of developing multiple cancer types and having worse cancer outcomes.

Genetic testing for men with prostate cancer

Recent research shows a link between prostate cancer and inherited mutations in BRCA1, BRCA2, ATM and CHEK2.

As a result, national guidelines now recommend genetic counseling and testing for prostate cancer patients, who meet certain high-risk criteria, to determine whether or not they have an inherited genetic mutation that is relevant to their cancer.

Benefits of genetic testing for men with prostate cancer

Genetic test results may provide you and your family with additional health information and help you make medical decisions. Test results may:

  • Affect treatment decisions. For example, research has shown that men with hereditary prostate cancer are more likely to develop aggressive disease that becomes resistant to hormonal therapies.
  • Affect eligibility for certain clinical trials for targeted therapy.
  • Help relatives understand and manage their risk for cancer.

Who should consider hereditary genetic/germline testing?

According to professional society guidelines, germline genetic testing should be considered for prostate cancer patients with at least one of the following criteria:*

  • Prostate cancer patients with at least one of the following:
    • Intraductal histology
    • Regional or metastatic disease
    • T3 or T4 disease
    • Grade group 4 or 5
    • PSA >20 ng/mL


  • Prostate cancer patients with at least one of the following family history criteria:
    • Brother, father, or multiple family members diagnosed with prostate cancer at <60 years of age or who died of prostate cancer (except clinically localized Grade group 1)
    • Family member with a known pathogenic variant
    • Three or more cancers on the same side of the family: bile duct, breast, colorectal, endometrial, gastric, kidney, melanoma, ovarian, pancreatic, prostate (except clinically localized Grade group 1), small bowel, or urothelial cancer
    • Ashkenazi Jewish ancestry

Study authors recommend ALL prostate cancer patients receive genetic testing.

The largest study to date on the genetics of prostate cancer has found that 17% of prostate cancer patients have a disease-causing genetic variant associated with more aggressive disease and poorer health outcomes.

Importantly, the factors frequently used to identify patients who qualify for testing (such as Gleason score, ethnicity, family history, or stage of disease) did not correlate with genetic mutations in the ~3,600 patients tested. In fact, 37% of the patients with these mutations did not meet recommended testing criteria.

Based on these data genetic testing guidelines should be expanded to include genetic testing of ALL men diagnosed with prostate cancer.

Ask your urologist, radiation oncologist or other cancer team experts if genetic testing might be right for you.

I offer the following genetic test (which includes free genetic counseling):

Color – Genomics Hereditary Cancer Test