> Prostate Cancer & Patient Support > Prostate Cancer Diagnosis

Genetic Testing

heading

What it means for you and your family

What are genes?
People have more than 20,000 genes, which they inherit from their parents.
Genes are made of DNA and act like a blueprint, telling your body how to grow and work.
Every cell in your body has a copy of each gene.

What is a germline gene change?
A permanent change in the DNA of a gene that can be passed from a parent to a child.

Some germline gene changes can increase your risk of prostate cancer and other cancers.

You may also hear terms like ‘inherited mutation’ or ‘inherited pathogenic variant.’ These all refer to the same thing — harmful gene changes that can increase cancer risk.

What is germline genetic testing?
A blood or saliva test that checks your healthy cells for germline gene changes that can increase your risk for cancer.

Testing positive does not mean you will definitely get cancer, but it does mean your risk is above average.

Knowing this can help you or your loved ones be proactive — like getting earlier or more frequent cancer screenings or making healthy lifestyle changes that can reduce cancer risk.

How can germline genetic testing help patients with prostate cancer?
If you have prostate cancer, germline testing may help show:

Whether you may be at increased risk for certain other cancers.
Whether your family may be at increased risk, so they can act to protect their health.
Which treatments may work best if you have advanced (metastatic) disease.

Should everyone with prostate cancer get germline testing?
It is recommended if you have:

Metastatic or regional (node-positive) prostate cancer (has spread outside the prostate to lymph nodes or distant organs)
High or very high-risk localized prostate cancer (likely to spread without prompt treatment)
Ashkenazi Jewish ancestry
A close blood relative* with high-risk or advanced prostate cancer, breast cancer by age 50, male breast cancer, or ovarian or pancreatic cancer
Prostate or breast cancer in at least 3 close blood relatives on the same side of the family, including you

*Close blood relatives include parents, siblings, children, grandparents, and aunts or uncles.

Germline testing may also be considered if you had prostate cancer diagnosed by age 55, or your the pathology report (prostate cancer tissue analysis) shows an intraductal or cribriform pattern.

For people without cancer, germline testing is recommended if their blood relatives match any of the descriptions above.

How can I get germline testing?
Start by asking your doctor if it’s right for you. If needed, share the above list of who it’s recommended for.

If germline testing is recommended, ask for a ‘broad-panel’ test to look for changes in genes such as:

BRCA2, BRCA1 — increase risk of prostate, breast, ovarian, and pancreatic cancer.
ATM, PALB2 — increase risk of prostate, breast, and pancreatic cancers
CHEK2 — increase risk of prostate and breast cancer
HOXB1 — increase risk of prostate cancer
MLH1, MSH2, MSH6, PMS2, EPCAM (Lynch syndrome genes) — increase risk of prostate, endometrial/uterine, colon, and some other gastrointestinal (GI) cancers

How much does a germline test cost?
Insurance often covers germline testing for patients with prostate cancer. Ask your care team to check. Many labs also offer financial-assistance programs. If you pay the full cost yourself, the cash price is often 200-300 dollars.

I tested positive for a germline gene change. What should I do?
This may feel overwhelming at first, but you are not alone.

Make an appointment with your doctor or a genetic counselor to talk through your results and what they may mean for you and your loved ones. Genetic counselors specialize in interpreting germline genetic tests. They can be very helpful.

It may also help to bring a list of questions to your appointment, and to ask a friend or family member to come with you for support.

What about doing a germline test at home?
Home kits can miss important gene changes. If you already used a home test and it shows a gene change:

Seek genetic counseling.
Ask for a confirmatory clinical germline test.
Ask what the result means for you and your family.

What about my family?
If you carry an inherited gene change, telling relatives can help them act to protect their health.

Inherited gene changes affect the risk of cancer in people of all genders, so it’s not only sons or grandsons who need to know. Your doctor or genetic counselor can help you decide who to tell and what to say.

Once informed, your relatives can then work with their own doctor or genetic counselor to:

Decide whether to get germline testing themselves.
Understand their test results,
Plan next steps, such as making a personalized cancer screening plan or healthy lifestyle changes.

Telling your loved ones about a positive germline test may feel difficult, but it can help save the lives of people you love.

How can I find a genetic counselor?
You can ask your doctor for a referral, or search the National Society of Genetic Counselors (NSGC) directory .