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Prostate Cancer Gene Test Helps Patients Decide On Treatment

My Family Member Has Prostate Cancer Should I Get Germline Testing

How Genetic Tests Guide Treatment for Advanced Stage and Metastatic Prostate Cancer Patients

If one of your blood relatives has cancer and has tested positive for certain genetic traits, their doctor or genetic counselor may offer germline testing to other members of the family.

This is known as cascade testing. It can help you and other family members learn if you have an increased risk for developing certain types of cancer, including prostate cancer.

If you test positive for certain genetic traits that raise your risk for cancer, your doctor or genetic counselor may:

  • advise you to begin cancer screenings at a younger age than usual
  • encourage you to get more frequent cancer screenings than usual
  • recommend lifestyle changes or other strategies to reduce your risk for developing cancer

Your doctor will likely advise you to get early cancer screenings if you have a close relative with prostate cancer, even if you havent gone through germline testing.

Prostate cancer screening may be conducted with a simple blood test, known as the prostate-specific antigen , as well as a digital rectal examination .

If you test positive for elevated levels of PSA, or you have abnormal exam results, your doctor may order a prostate biopsy or additional tests to check for cancer.

Some genes linked to prostate cancer are also linked to other cancers, such as breast and ovarian cancer. Talk to your doctor to learn which cancer screenings you should get and when you should get them.

Will Psa Testing Stop Me Dying From Prostate Cancer

The next part of the website gives you information about your chances of being diagnosed with prostate cancer if you have a PSA test every year for the next 10 years. It also gives you information about your chances of dying from prostate cancer if you have a PSA test every year for the next 10 years. The numbers provided on the next two screens are only estimates. They are based on the age and family history details you provided at the beginning of the website and on your current risk of developing prostate cancer. The figures refer to a 10 year period only, because your risk of prostate cancer changes with age. The estimates we have provided use the best numbers from the latest evidence available. They may change in the future. Also, we have presented the best-case scenario for PSA testing, rather than the worst. That is, we provide the best numbers published for the outcomes of PSA testing.


* The figures in the table give only a rough guide. Your chance of developing these side-effects might be higher or lower than these estimates. This will depend on the size of the cancer and the specific treatments you choose. Most men will also be infertile after treatment for prostate cancerProstate cancer is when cancer cells divide and grow in the prostate gland..

Genetic Testing For Prostate Cancer: What Men And Their Families Should Know

Its fairly common knowledge that mutations in genes such as BRCA1 and BRCA2 can play a role in breast and ovarian cancers. But some of these same genetic mutations as well as mutations in genes such as CHEK2, HOXB13, and ATM also can increase a mans risk of developing prostate cancer.

After skin cancer, prostate cancer is the most common cancer among men in the U.S. More than 207,000 men receive a prostate cancer diagnosis each year including nearly 14,000 Texans and more than 30,000 die of the disease.

A 2019 study of 3,600 men with prostate cancer found that 17% had inherited genetic mutations that may have contributed to their cancer. Of those men, 31% of the mutations were in the BRCA genes.

The knowledge that the same genetic mutations that increase the risk of breast, ovarian, colon, and pancreatic cancers can also cause prostate cancer is helping inform how we prevent and, in some cases, treat the disease with genetic counseling and testing playing a key role.

As the science of genetics has advanced, more health insurance plans are beginning to cover genetic counseling and testing, removing a once-common barrier. Subsequently, there has been a push to identify men with prostate cancer or a family history of cancers who may be at risk of a hereditary predisposition.

Read Also: Is Painful Ejaculation A Sign Of Prostate Cancer

What Is Prostate Cancer

ProstateProstate is a gland in males, about the size of a walnut. It stores the fluid that makes up semen. cancer is a tumour that starts in the prostate gland. The prostate gland sits just below the bladder. It is about the size of a golf ball. The prostate produces part of the fluid that makes up semen and nourishes the sperm.

Prostate cancers also tend to be slow-growingReference 4:The Prostate Cancer Foundation of Australia. . The Prostate – What is it? Accessed: 5 January 2009. View all. Some prostate cancers are harmless, and never cause symptoms so men are unaware they have it. So, only about 10 in 1000 men die from prostate cancerReference 3:Australian Institute of Health and Welfare: Australia’s Health 2008. Cat. No. AUS 99. In. Canberra: AIHW 2008. View all. Prostate cancer, however, varies across men and can be very serious. Some cancers grow very slowly and dont threaten life. Others grow more quickly and do threaten lifeReference 4:The Prostate Cancer Foundation of Australia. . The Prostate – What is it? Accessed: 5 January 2009. View all. Prostate cancer typically causes no symptoms in its early stages. As it progresses, men may have problems with urination and with sexual function. These symptoms, however, can also indicate the presence of other diseases that are not prostate cancerReference 5:Carter HB: Prostate disorders. In: The Johns Hopkins White Papers. Baltimore, Maryland: Johns Hopkins Medicine 2008. View all.

Heritable Risks Of Prostate Cancer

Prostate Cancer Diagnosis with Urine Test

Germline testing in men with prostate cancer is being performed more often since an important number of prostate cancer cases have a heritable component.1,2 Germline mutations in DNA repair genes, such as BRCA1/2, contribute to hereditary prostate cancer risk and are present in up to 11.8% of men with metastatic prostate cancer,3 compared with 4.6% among men with localized prostate cancer and 2.7% in persons without a known cancer diagnosis.3,4

Recommended Reading: Prostate Biopsy Risks Spreading Cancer

What Testing Options Are Available

Transcriptome Analysis
  • A Transcriptome Analysis may provide information in regard to gene expression changes within the tumour profile. Gene expression profiles help assess the functional status of critical pathways and may indicate up or down regulation of RNA pathways within the tumour, helping highlight additional drug targets and pathways, when used in conjunction with DNA sequencing.
  • Transcriptome Analysis may also help confirm or corroborate tumour diagnosis. For patients who have been previously undiagnosed or incorrectly diagnosed, obtaining an accurate diagnosis can potentially increase the number targeted therapies they can access for treatment.

Tests To Diagnose And Stage Prostate Cancer

Most prostate cancers are first found as a result of screening. Early prostate cancers usually dont cause symptoms, but more advanced cancers are sometimes first found because of symptoms they cause.

If prostate cancer is suspected based on results of screening tests or symptoms, tests will be needed to be sure. If youre seeing your primary care doctor, you might be referred to a urologist, a doctor who treats cancers of the genital and urinary tract, including the prostate.

The actual diagnosis of prostate cancer can only be made with a prostate biopsy .

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Personalizing Your Prostate Cancer Treatment Through Genomics

Because every prostate cancer is different, treatment should not be one size fits all. Genomics provides unique information about the nature of a mans individual prostate cancer that cant be found in other clinical measures such as a PSA level and Gleason score.

Over the past several years, a number of genomic tests have been developed and they are described in the tables below. Presently, there is no best test because adequate comparisons have not been performed. Each one has advantages and disadvantages so it is important to understand their strengths and weaknesses in order to have an informed discussion with your physician about whether one of these tests is right for you. Men should be aware that genomic testing is not an exact science. It cannot tell any individual what will happen to them. Rather it only can provide the odds or chances that something will occur. For example, a test may show that a newly diagnosed cancer has a 10-15% chance it will progress over the next 10 years. This means that there is an 85-90% chance it will not progress. Some men may feel that they like those odds and will decide to treat it conservatively and consider active surveillance, while others may feel that even a 10-15% chance of progression is too great and therefore they will decide to treat it aggressively with surgery or radiation. There is no right answer about what someone should do rather genomic test results are one additional factor to consider when making a decision.

Delivery Care Models For Germline Testing

BRCA, MSI, and Useful Genetic Tests in Prostate Cancer | Answering YouTube Comments | PCRI

NCCN guidelines recommend germline testing for a large subset of patients with prostate cancer, but the best care model to offer education and testing is unclear. The traditional clinical care delivery model for cancer genetics includes 2 in-person visits with a genetic counselor, the first for pretest risk assessment and education and the second to discuss the results. This is the most established pathway and, historically, has been utilized the most. However, broadening recommendations for germline testing create great demand that cannot be currently met in a timely fashion by the approximately 4000 genetic counselors in the United States.11,12 Therefore, oncologists and other providers are increasingly performing pretest counseling, ordering genetic testing, and providing posttest counseling for their patients, or following hybrid models .13

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Use In Men Already Diagnosed With Prostate Cancer

The PSA test can also be useful if you have already been diagnosed with prostate cancer.

  • In men just diagnosed with prostate cancer, the PSA level can be used together with physical exam results and tumor grade to help decide if other tests are needed.
  • The PSA level is used to help determine the stage of your cancer. This can affect your treatment options, since some treatments are not likely to be helpful if the cancer has spread to other parts of the body.
  • PSA tests are often an important part of determining how well treatment is working, as well as in watching for a possible recurrence of the cancer after treatment .

How Knowing Your Results Helps You

Some men are born with prostate cancer written into their genes and donât know it. But having genetic testing to find out if youâve inherited this risk can give you a clear advantage.

How? If you already have prostate cancer or develop it in the future, tailored strategies can be used to improve your outcomes. Newer therapies can target the cancerâs weaknesses, which can contribute to better outcomes. And knowing your genetic risk can also help your biological family, who might have the same risk factors, by giving them options to be proactive about their health through cancer screening and/or risk reduction strategies.

If testing shows you have a gene mutation that is linked to inherited cancer risk, your blood relatives might be at higher risk, too. The Prostate Cancer Genetics Clinic at SCCA can help refer your family members for genetic counseling and testing, if appropriate. We can also guide them to resources for screening and early cancer prevention.

Nearly 12 percent of men with advanced prostate cancer carry inherited genes that increase their risk for faster-growing forms of the disease that are more likely to spread. Knowing whether you carry one of these genes may help your physician precisely tailor your prostate cancer treatment.

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Newer Treatments For Early

Researchers are looking at newer forms of treatment for early-stage prostate cancer. These new treatments could be used either as the first type of treatment or after unsuccessful radiation therapy.

One treatment, known as high-intensity focused ultrasound , destroys cancer cells by heating them with highly focused ultrasonic beams. This treatment has been used in some countries for a while, and is now available in the United States. Its safety and effectiveness are now being studied, although most doctors in the US dont consider it to be a proven first-line treatment for prostate cancer at this time.

Positron Emission Tomography Scan


A PET scan is similar to a bone scan, in that a slightly radioactive substance is injected into the blood, which can then be detected with a special camera. But PET scans use different tracers that collect mainly in cancer cells. The most common tracer for standard PET scans is FDG, which is a type of sugar. Unfortunately, this type of PET scan isnt very useful in finding prostate cancer cells in the body.

However, newer tracers, such as fluciclovine F18, sodium fluoride F18, and choline C11, have been found to be better at detecting prostate cancer cells.

Other newer tracers, such as Ga 68 PSMA-11 and 18F-DCFPyl , attach to prostate-specific membrane antigen , a protein that is often found in large amounts on prostate cancer cells. Tests using these types of tracers are sometimes referred to as PSMA PET scans.

These newer types of PET scans are most often used if its not clear if prostate cancer has spread. For example, one of these tests might be done if the results of a bone scan arent clear, or if a man has a rising PSA level after initial treatment but its not clear where the cancer is in the body.

The pictures from a PET scan arent as detailed as MRI or CT scan images, but they can often show areas of cancer anywhere in the body. Some machines can do a PET scan and either an MRI or a CT scan at the same time, which can give more detail about areas that show up on the PET scan.

Also Check: What Does Grade 4 Prostate Cancer Mean

Components Of Germline Testing Counseling

Oncologists who choose to perform germline testing need to be comfortable with several aspects of genetic counseling and to remain current on the ethics of informed consent and posttest counseling for germline testing . The 2019 Philadelphia Prostate Cancer Consensus Conference suggests that optimal pretest consent should include discussion of the purpose of testing, types of possible results , the possibility of identifying hereditary cancer syndrome and/or other cancer risks, testings potential cost, the importance of cascade family testing, and the Genetic Information Nondiscrimination Act law.12 The GINA law protects against discrimination based on genetics in employment and health insurance however, it is not applicable to life insurance, long-term care disability insurance, Indian Health services, and patients enrolled into federal employee, Veterans Administration, and US military health benefit plans.23,24 These gaps in protection by GINA law are important to discuss with patients, who may need to consider them before proceeding with the germline testing. Providers should also consider discussing the different panels available for testing, the privacy of genetic tests, and genetic laboratories policies related to sharing and selling of data.12

Guidelines For Genetic Testing For Relatives Of People Who Have Been Diagnosed With Prostate Cancer

Genetic counseling and testing is also recommended for anyone with a first-degree or second-degree relative who has been diagnosed with metastatic or high-grade prostate cancer.

See our sections Testing Guidelines by Cancer Type and Genetic Testing for People Who Have Never Been Diagnosed with Cancer for additional guideline information.

Healthcare providers who are specially trained in genetics can help people diagnosed with cancer learn if it was caused by an inherited mutation. There are several ways to find a genetics expert:

If you have prostate cancer and are considering genetic testing, you can find peer support through the following resources:

  • Other organizations that offer support:
  • Us Too is an international nonprofit organization for men with prostate cancer and their loved ones.
  • Some laboratories have assistance programs that help cover the cost for genetic testing for an inherited mutation:

    Read Also: Hormone Therapy For Advanced Prostate Cancer Life Expectancy

    Genetic Testing For Prostate Cancer: What You Should Know

    Doctors have known for decades that genetics can play a vital role in breast and ovarian cancer. Lately, scientists have begun to realize that many of these same genetic changes may lead to a man’s risk of developing prostate cancer. These findings are leading to earlier identification of men at risk for prostate cancer.

    They are also leading to more targeted care options for some men with advanced prostate cancer, says Todd Morgan, M.D., Associate Professor of Urology at the University of Michigan.

    This year nearly 165,000 men in the United States will be diagnosed with prostate cancer. More than 29,000 will die from the disease. The risk of prostate cancer is 74 percent higher in blacks than in whites. The reasons for this are still unclear.

    Overall, men have a 1 in 9 chance of being diagnosed with prostate cancer. That rises to a 1 in 6 chance for African-American men. Men with a family history of the disease have a 1 in 5 chance of getting the disease themselves.

    A man is two to three times more likely to get prostate cancer if his father, brother or son had it. This risk rises with the number of family members who have prostate cancer, breast cancer, and ovarian cancer. The age when a close family member was diagnosed is also a vital factor.

    Some genes linked to prostate cancer also can cause breast, ovarian and other cancers. These genes have a 50 percent chance of being passed on to children. The most well-known of these genes are BRCA1 and BRCA2.


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