Genetic testing can identify specific genetic changes that raise the risk of prostate cancer. Some people with a family history of cancer may benefit from undergoing a genetic test.

Prostate cancer occurs when cancerous cells develop in the prostate. The prostate is a small gland that sits just below the bladder in males.

Prostate cancer can grow slowly, and it may not cause any symptoms. However, some people may experience:

Advanced cases of prostate cancer can lead to additional symptoms and complications as the cancer spreads through the body. These can include:

There are various treatment options for prostate cancer, including surgery, radiation therapy, and hormone therapy.

The main benefit of screening for prostate cancer is to find cancer early, before it can spread or cause symptoms. This can help increase the effectiveness of treatment. As genetic changes can play a role in the development of prostate cancer, screening for genes associated with prostate cancer can identify those who may be at high risk.

This article discusses the genetics of prostate cancer and what genetic testing involves.

A healthcare specialist checking for genes relating to prostate cancer.Share on Pinterest

The American Cancer Society (ACS) states that around 1 in 8 males will receive a diagnosis of prostate cancer during their lifetime. It is the second most common cancer among males in the United States, but only around 1 in 41 males will die from the condition.

The exact causes of prostate cancer are still unclear. However, the National Cancer Institute (NCI) lists the following factors that may increase the risk of prostate cancer:

  • older age
  • African American ancestry
  • a family history of prostate cancer
  • high testosterone levels
  • use of vitamin E or folic acid supplements

Genetic factors can increase the risk of prostate cancer, and research into this relationship is increasing. For example, researchers now know that genetic mutations associated with an increased risk of prostate cancer can pass through families. This is an inherited genetic risk.

Some examples of hereditary genetic mutations that may increase the risk of prostate cancer include:

  • BRCA1 and BRCA2
  • CHEK2, ATM, PALB2, and RAD51D
  • HOXB13
  • genes that typically repair mismatches in DNA, such as MSH2, MSH6, or MLH1

Genetic mutations that may increase prostate cancer risk can also occur after birth. Experts refer to these as acquired gene mutations, and because they require interactions with other risk factors, they do not pass through families.

Mutations occur when a cell divides and must replicate its DNA. There can be errors during this replication process that cause the new cells to contain DNA with mutations that increase the risk of prostate cancer. These errors may occur at random or result from other factors, such as diet. Research is ongoing to identify what factors might influence these mutations.

The ACS suggests that these genetic changes likely only account for a small proportion of prostate cancer cases. However, the link between certain genes and prostate cancer is useful for genetic testing.

Doctors can use genetic tests to check if a person has one or more genetic mutations that could increase their risk of cancer. These tests could be useful for someone with a family history of prostate cancer to determine if they are at risk due to inherited genetics.

Genetic testing usually involves a blood test, but it could also involve saliva or skin cell samples. A healthcare professional will take the sample and send it off to a laboratory for analysis. The laboratory will then return the test a few weeks later.

People who do not have prostate cancer will undergo a germline genetic test, which involves taking samples from noncancerous cells.

People who already have prostate cancer may undergo somatic genetic tests, which look for genetic mutations in cancerous cells.

According to the NCI, the results of a genetic test can be either positive or negative.


A positive result occurs when the test identifies one or more genetic mutations that it was looking for. This can mean that someone without prostate cancer has an increased risk of developing the condition from an inherited genetic mutation.

However, most prostate cancer cases occur in people without an inherited genetic mutation.

In people who already have prostate cancer, the result can help doctors diagnose and treat the condition.


A negative result suggests that the test was unable to detect any genetic mutations that it was looking for. This result can indicate that someone with a family history of prostate cancer did not inherit the specific genetic mutation from a family member.

However, getting a negative test result does not eliminate the risk of prostate cancer.

Variant of uncertain significance or benign variant

The test could also identify genetic mutations that are more common in people without cancer, which doctors refer to as benign variants.

It may also indicate the presence of a mutation that has an uncertain effect on the person’s risk of cancer.

Genetic testing procedures are safe, as they typically involve taking small blood, saliva, or tissue samples. However, the test can produce results that may be stressful or uninformative.

Also, not all health insurance plans fully cover genetic testing, which may result in a financial cost.

The Prostate Cancer Foundation suggests that males should consider genetic testing if they have:

  • a family history of genetic mutations associated with prostate cancer or other cancers
  • a family history of any cancer
  • Ashkenazi Jewish heritage

People who are concerned about their family history of cancer should discuss genetic testing with a doctor or genetic counselor. They may recommend that the family member with prostate cancer gets a genetic test first, if possible. This will allow them to identify the specific mutation that the person might have inherited.

The ACS provides additional guidance on who should consider genetic testing for any type of cancer. It suggests that genetic testing may be beneficial for people with certain patterns of cancer in their family, such as:

  • a first degree relative with cancer
  • many relatives on one side of the family with a specific type of cancer
  • a family history of cancer associated with a specific mutation, such as breast cancer
  • family members with multiple types of cancer
  • family members with cancer at a young age
  • family members with rare forms of cancer, such as retinoblastoma
  • family members with a genetic mutation linked to cancer, as identified by genetic testing

A doctor or genetic counselor can provide advice and guidance on how to get a genetic test. They can help determine if a genetic test is necessary or helpful for each individual case.

Health insurance typically covers genetic tests for people who have a medical need for them, but the costs differ substantially. For example, one estimate suggests that the cost of genetic testing varies from $300 to $10,000.

Prostate cancer occurs when genetic changes cause cancerous cells to develop in the prostate. It is unclear what causes these changes, but some genetic mutations can increase the risk. Genetic tests can detect these mutations, and this can inform someone about their individual risk of cancer.

Most prostate cancer cases are not the result of a genetic mutation that is detectable through testing. A positive test result may only indicate a slight increase in the risk of prostate cancer.

People with a family history of cancer may benefit from talking with a doctor about getting a genetic test.