Genetic Testing

Your body contains over 20,000 genes that you inherited from your parents. Together, these genes are like instructions that tell your body how to grow and operate. Genes are made of a molecule called DNA.

When a gene’s instructions change, that is called a genetic mutation (mutation means change). Mutations can be inherited from your parents. Other mutations happen during your lifetime. Some mutations can increase the risk of cancer.

In the last 25 years, several hereditary mutations (genetic mutations that run in families) have been discovered that may increase the risk of developing certain cancers. For example, you may have heard the BRCA1 and BRCA2 gene mutations increase risk for not only breast and ovarian cancers, but also for prostate, pancreatic, gastrointestinal cancers, and others.

Genetic testing for inherited cancer risk uses a sample of your blood or saliva. These tests examine your inherited DNA for mutations that might signal a higher risk for cancer that is passed down through families. Talk to your doctor about referral to a genetic counselor if you have one or more of the following risk factors:

• Diagnosis of high-risk, regional, or metastatic prostate cancer
• Biopsy shows intraductal carcinoma or cell pattern called “cribriform”
• Blood relative with a known cancer risk gene mutation (e.g. BRCA1, BRCA2, Lynch syndrome)
• Strong family history of prostate or other cancers

If you learn that you are a carrier of an inherited gene mutation that increase the risk for prostate cancer, this has critical implications for all of your family members, who may have inherited the same mutation. It will be important for them to also speak with their physician and/or a genetic counselor. For some genes that are better studied, there may be clear cancer screening recommendations and risk-reduction strategies.

Download our guide to testing for inherited mutations to learn more.

For patients with advanced prostate cancer, the results of genetic testing may inform your treatment options. For example, medicines called PARP inhibitors are FDA-approved for patients with metastatic castration-resistant prostate cancer who have certain inherited gene mutations.

Last Reviewed: 12/2023