Navigating Prostate Cancer

Genetic Testing

Genetic testing examines a person's DNA. It can help diagnose certain conditions, guide treatment decisions, and assess the risk for specific diseases. It can also identify the chance of passing genetic traits to family members, inform treatment monitoring, and support personalized medicine.

DID YOU KNOW?

There are two types of genetic mutations in prostate cancer: inherited mutations, which are passed down from parent to child, and acquired mutations, which can develop randomly through a person’s lifetime.

Different tests are used to test for each type of mutation. Germline testing identifies inherited mutations passed down through families and somatic (tumour) testing identifies the acquired mutations present only in the tumour.

Genetic Mutations

Understanding genetic mutations in prostate cancer can provide important information about prognosis and help guide treatment decisions.

The human body has thousands of genes, each with a specific job. Some genes help repair damaged DNA and keep cells healthy. When certain DNA repair genes have mutations, they can disrupt a process called homologous recombination repair (HRR), which is essential for fixing DNA damage. Examples of these genes include BRCA1, BRCA2, ATM, and PALB2, though other genes may also affect the HRR process.

When the HRR process does not work properly, cancer cells struggle to repair DNA damage. Over time, this buildup of damaged DNA can drive cancer growth.

Genetic Testing

Genetic testing examines a person's DNA. It can help diagnose certain conditions, guide treatment decisions, and indicate risks for specific diseases. Additionally, it can assess the chances of passing genetic traits to future generations, inform treatment monitoring, and support personalized medicine.

TYPES OF TESTS

There are two types of genetic mutations in prostate cancer: inherited mutations, which are passed down from parent to child, and acquired mutations, which can develop randomly through a person’s lifetime.

Different tests are used to test for each type of mutation. Germline testing identifies inherited mutations passed down through families and somatic (tumor) testing identifies the acquired mutations present only in the tumor.

Genetic Mutations

Understanding genetic mutations in prostate cancer can provide important information about prognosis and help guide treatment decisions.

DID YOU KNOW?

The human body has thousands of genes, each with a specific job. Some genes help repair damaged DNA and keep cells healthy. When certain DNA repair genes have mutations, they can disrupt a process called homologous recombination repair (HRR), which is essential for fixing DNA damage. Examples of these genes include BRCA1, BRCA2, ATM, and PALB2, though other genes may also affect the HRR process.

When the HRR process does not work properly, cancer cells struggle to repair DNA damage. Over time, this buildup of damaged DNA can drive cancer growth.

Approximately 1 in 4 men with advanced prostate cancer have HRR gene mutations.

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What next?

The next steps will depend on where you are in your journey and can look different for everyone. Access and coverage may vary depending on your province and individual circumstances. Your healthcare team can help navigate the best option for your situation.

Here are some potential scenarios:

Your doctor orders the genetic test: Your urologist, oncologist, genetics specialist, or primary care provider may explain the purpose of genetic testing and arrange for it directly

Referral to a genetic counselor: If needed, your doctor may refer you to a genetic counselor who can discuss inherited risks and the impact of testing for you and your family

Testing from a biopsy: Your doctor may request somatic (tumour) testing, where the pathologist examines the cancer tissue collected from a biopsy for genetic mutations

Talk to your doctor that’s responsible for your cancer care to see if genetic testing is appropriate for you.

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Frequently Asked Questions with Dr. Yip

Dr. Steven Yip is a genitourinary medical oncologist, clinical associate professor, and medical lead of Precision Oncology & Experimental Therapeutics (POET) at the Arthur Child Comprehensive Cancer Centre in Calgary, Alberta.

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Frequently Asked Questions with Dr. Yip

Why is genetic testing important for prostate cancer?

For some people with prostate cancer, genetic testing can help inform the likely course of the disease (i.e. prognosis) and the best treatment decisions for them. Family members of patients may also be impacted by the results of genetic testing.

Who should consider genetic testing, and is it relevant to me?

Individuals with metastatic (cancer that has spread outside the prostate) and/or hormone-resistant prostate cancer (cancer that no longer responds to hormone therapy) should consider genetic testing.

Additionally, those with localized prostate cancer (cancer that is only in the prostate) with any of the following features:

a family history of prostate or related cancers (most commonly breast, ovarian, colorectal, and endometrial cancers; occasionally pancreatic, upper tract urothelial, stomach, small bowel, and brain cancers; rarely melanoma),
a personal history of related cancers (most commonly colorectal cancer; occasionally pancreatic, upper tract urothelial, stomach, small bowel, brain, and male breast cancers; rarely melanoma),
Ashkenazi Jewish ancestry, or
certain microscopic features identified on their prostate cancer tissue (i.e. high-/very high-risk disease, intraductal pattern, cribriform pattern)

How is genetic testing done, how long does it take, what does the process involve?

A variety of different genetic tests exist, and you should discuss with your doctor about which test is available or best suited for you. Testing can be performed on your prostate or tumour tissue, blood, and sometimes saliva. The time to receive a result varies by the specific test and laboratory.

Do I need testing for both inherited (germline or hereditary) and acquired (somatic) DNA mutation or alteration? If I have a DNA mutation, how will it impact my treatment options?

This depends on your stage of disease, and you should discuss which test is recommended with your doctor. If you have metastatic and/or hormone resistant prostate cancer, ideally both tests should be performed, but access can vary and may be limited in your region. If you have localized prostate cancer with any of the features noted in question 2, hereditary testing may be the primary test to be considered. Certain DNA mutations may impact the treatments considered, particularly in the advanced prostate cancer setting.

If my genetic test is negative, am I completely free of genetic risks?

Our understanding of how DNA changes impact prostate cancer is constantly evolving. Even if your test results do not show anything immediately concerning, you should still discuss them with your doctor to understand what they mean for you.

If I’ve had genetic testing before, should I get tested again?

In most circumstances, this would not likely be required. However, different tests give varying levels of information, so another type of genetic testing may be considered, depending on the state of your disease and which previous test(s) you have received in the past.

If I test positive, how will it impact my treatment monitoring?

If certain DNA mutations are identified, this could impact how your disease might behave, which may require closer monitoring and testing. You should discuss this with your doctor.

Will my genetic test results affect my family, and should they consider testing?

If a certain DNA mutation is identified, it may be inherited which can be confirmed through hereditary testing. If this is found to be the case, a genetic specialist should be consulted to determine if family members should also be tested for a similar DNA mutation, as they may be at higher risk.

Are there risks or limitations of genetic testing I should know about?

Each test has its limitations in understanding your DNA. The information identified from genetic testing may impact your care, monitoring, and any subsequent testing. The results are kept private and confidential between you and your care team, but the genetic testing process, the wait for results, and the final test results and implications of the results may put additional stress on you. Before you are tested, you should discuss with your doctor about the pros and cons of genetic testing.

Is genetic testing covered by the provincial health plan, or will I need to pay for it?

Access to certain genetic tests is improving, but availability and funding can vary by region. You may also have the option to pay for testing out of pocket and you should discuss whether this is worth considering with your doctor.