Detecting a gene mutation associated with prostate cancer can help determine your risk of developing the disease. But other tests and examinations are needed to actually diagnose prostate cancer.

Prostate cancer can have a genetic component, where certain mutations within your genes can raise your risk of developing this common condition. But genetic testing is not enough to formally diagnose prostate cancer, and a biopsy or other tests are usually necessary.

You may find that genetic testing can help identify particular gene mutations associated with prostate cancer. This may help determine the best treatment once the cancer has been diagnosed.

This article will provide more detail on genetic testing for prostate cancer, how your risk may serve as a motivation to get an early prostate cancer screening, and how that screening can help improve the odds of successful treatment.

About 1 in 8 men will develop prostate cancer.

Two major risk factors for prostate cancer include:

  • Age: This is a major risk factor, as about 60% of prostate cancer diagnoses are given to people age 65 years and over.
  • Family history of prostate cancer and other cancers: An estimated 5-10% of all prostate cancers are hereditary, which means it’s passed down to a child from one or both biological parents. Hereditary cancers differ from familial cancers, which affect multiple members of a family but are not directly linked to gene mutations. About 10–20% of prostate cancer cases are familial.

Researchers have identified several different gene mutations that may raise a person’s risk of developing prostate cancer.

Among them are the BRCA1 and BRCA2 genes, which are also associated with cancers of the breast and ovaries. These and other gene mutations can be tested for after prostate cancer has been diagnosed or if an individual is determined to be at high risk for prostate cancer, due to a known family history or other factors.

The National Cancer Institute states that the specific genes to be tested depend on several factors, including family history and an individual’s medical history. Genes that may be tested for mutations if a person meets certain prostate cancer risk requirements include:

  • BRCA1
  • BRCA2
  • ATM
  • CHEK2
  • HOXB13
  • PALB2
  • MLH1
  • MSH2
  • MSH6
  • PMS2
  • TP53

It’s important to know that a genetic test alone cannot diagnose prostate cancer.

An initial diagnosis may be made by testing for prostate-specific antigen levels in the blood and through a digital rectal exam of the prostate gland itself.

To confirm a diagnosis of prostate cancer, your doctor may order a biopsy of prostate tissue.

A 2022 study suggests that the use of certain types of genetic testing is likely to expand in the years ahead, affecting both the risk assessment of individuals and their families, as well as the treatment guidelines for people with even early stage prostate cancer.

There are three basic types of genetic tests, each with its own purpose. They include:

  • diagnostic tests to find the origin of a disease
  • prognostic tests to establish your risk of developing a disease such as prostate cancer
  • predictive tests to assess whether a person has characteristics that might influence the effectiveness of a particular drug or to gauge the likelihood of developing a disease taking into consideration other criteria, such as environmental factors

Testing for genetic mutations associated with prostate cancer can be done using blood or saliva samples. For the most reliable results, work with your physician or a geneticist (doctor who specializes in genetics), rather than relying on online services.

In a lab, the genetic information from the blood cells or saliva cells is isolated. The sequence of a gene’s “building blocks” is then studied to look for irregularities or mutations. It can take several weeks to receive a thorough analysis from a lab.

If you have received a diagnosis of advanced or metastatic prostate cancer, you may consider consulting your doctor about whether genetic testing is appropriate.

The Food and Drug Administration (FDA) has approved a type of targeted cancer drug called a PARP inhibitor to treat certain prostate cancers in which gene mutations have been identified. The drugs, including olaparib and rucaparib, work by helping damaged cells repair themselves.

A 2023 study suggests that prostate cancer may have better outcomes if PARP inhibitors are used in combination with other cancer medications or radiation therapy.

While genetic testing can’t detect prostate cancer, it can help determine a person’s risk for developing the disease and for learning more about the condition if it has already been diagnosed. The presence of certain gene mutations may help direct treatment, as certain drugs have been shown to be particularly helpful in treating certain prostate cancers with a genetic component.