What is Genetic Testing?

Genetic testing involves examining your DNA, the chemical database that carries instructions for your body’s functions. By taking a sample of your blood, saliva or tissue genetic testing can reveal changes (mutations) in your genes. Genetic testing plays a vital role in determining the risk of developing certain diseases, help with screening decisions and sometimes help identify the best medical treatment.

Genetic testing is voluntary and and with most tests it has benefits and risks that should be considered prior to having the testing done. A geneticist or genetic counselor can help by providing information about the pros and cons of genetic testing including the health, social and emotional aspects.

Myriad Genetics: The Prostate Cancer Quiz

Foundation Medicine


Who should have a genetic test for prostate cancer

Experts recommend that the following men consider genetic testing

  • All men with prostate cancer from families meeting established testing or syndrome criteria for hereditary breast, ovarian or prostate cancers as well as lynch syndrome.
  • Men who have two or more close blood relatives that have breast cancer, ovarian cancer, pancreatic cancer, prostate cancer or lynch syndrome.
  • Men with metastatic castrate resistant prostate cancer should consider genetic testing.
  • Men who have had tumor sequencing indicating mutations in cancer-risk genes may be recommended for germline genetic testing.

Why is genetic testing important for prostate cancer patients?

  • Inherited genetic mutations exist in 12% of men with metastatic prostate cancer. The mutations are primarily in DNA repair genes such as BRCA1, BRCA2, and ATM.
  • Having genetic testing may help you and your doctor make the best cancer screening and treatment plan for you. People who have a cancer gene mutation may need to start cancer screening earlier than usual, undergo screening more often, have additional screening for certain types of cancer and have a more aggressive treatment plan.
  • Certain treatment options are available for men who have certain genetic mutations offering a more personalized treatment plan.
  • Knowing if you have a cancer gene mutation can help your family members know if they may have a higher risk for certain cancers.

Germline versus Somatic Mutation

Germline Mutation
A germline mutation is an inherited mutation and can be passed from generation to generation. Cancer caused by a germline mutations is called inherited or hereditary cancer. More than 50 different hereditary cancer syndromes have been identified that can be passed from one generation to the next.

Somatic Mutation
Somatic mutations occur from damage to genes in an individual cell during a person’s life. Somatic mutations are not found in every cell in the body and they are not passed from parent to child. Somatic mutations may occur over time and change during the course of treatment.