Tuesday, July 16, 2024

Genetic Testing Of Prostate Biopsy

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Testing Before A Prostate Biopsy

Genetic Testing for Prostate Cancer – Urology Care Foundation

No man wants a biopsy. And many are unnecessarily done.

How can we determine who should undergo a prostate biopsy where, if we find it early, that person can be cured?

The first thing is to determine the genetic risk. One test that I know use for cancer is called COLOR.

The COLOR cancer genetic test looks at the following genetic mutations to determine the risk of cancer:


To order this genetic mutation test, speak with your physician.

Then there are the more prostate cancer-specific tests:

How Your Genes Can Raise Risk For Prostate Cancer

Researchers have found a handful of genes that, when they have certain changes in them , can play a role in prostate cancer risk.

These are the ones doctors know the most about:

BRCA1 and BRCA2. Normally these genes, called tumor suppressor genes, help prevent cancer. But inherited mutations can keep them from doing their job. Risk-raising mutations are more likely to cause breast and ovarian cancer. But in men, these changes — especially changes in BRCA2 — can lead to prostate cancer.

MSH2, MSH6, MLH1, and PMS2. When these genes work as they should, they help your cells fix problems that might otherwise lead to cancer. Inherited changes in any one of these genes causes Lynch syndrome. This inherited cancer syndrome raises your risk for colorectal, prostate, uterine, and other cancers.

CHEK2, ATM, PALB2, and RAD51D. These genes also help your cells fix themselves when things go wrong. Mutations in them can raise your risk for prostate cancer.

RNASEL. This gene helps cells die when something goes wrong in them. That way they donât do too much damage in your body. When the gene doesnât work right, because of an inherited mutation, abnormal cells could survive and become prostate cancer.

HOXB13. This gene plays a part in the development of your prostate gland. Rare mutations can raise risk for prostate cancers that happen at a young age, usually before age 55.

Research is in progress to find other gene changes that could raise risk for prostate cancer.

When A Biopsy May Be Needed

A biopsy can be used to investigate abnormalities, which can be:

  • functional such as kidney or liver problems
  • structural such as swelling in a particular organ

When the tissue sample is examined under the microscope, abnormal cells may be identified, which can help to diagnose a specific condition.

If a condition has already been diagnosed, a biopsy can also be used to assess its severity and grade .

This information can be very useful when deciding on the most appropriate treatment, and assessing how well a person responds to a particular type of treatment.

It can also be useful in helping to determine a persons overall prognosis .

Examples of conditions where a biopsy may be helpful include:

  • inflammation, such as in the liver or kidney
  • infection, such as in lymph nodes for example, tuberculosis
  • various skin conditions

Its not usually possible to tell whether a lump or growth on your skin or inside your body is cancerous or non-cancerous by clinical examination alone, which is why a biopsy is often required.

Also Check: What Does Prostate Fluid Look Like

Prostate Cancer Risk Assessment And Consideration Of Genetic Testing

Prostate cancer has long been recognised to have a familial component. Of all human cancers, prostate cancer is the most common familial cancer.

Most clusters of prostate cancer in families are multifactorial with no clear genetic cause that can be identified through genetic testing. The exception to this is when there is a co-ocurring family history of breast and / or ovarian cancer, or multiple young cancers in close relatives or where limited family history information is known to assess familial risk accurately.

Patients with a family history of breast and / or ovarian cancer, or close relatives with young prostate cancer may want to discuss if there is a role for genetic testing about their risk for prostate and other cancers. All men with metastatic or hormone resistant prostate cancer are now encouraged to speak with their Doctor about determining whether they carry an inherited cancer risk mutation.

What is the incidence of an inherited predisposition

The incidence of men with prostate cancer with an inherited predisposition to cancer is not high, probably in the order of 1-2% if you look at ALL men with prostate cancer.

Implications for the family

Implications of finding a faulty gene

New Zealand Guidelines

In 2018 the National Comprehensive Cancer Network in the USA recommended that all men, with advanced prostate cancer, should have genetic counselling and be offered genetic testing to determine if they have an inherited predisposition to cancer .

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Genetic Testing For Prostate Cancer

Targeted Prostate Biopsy

Thanks to research funded by the Prostate Cancer Foundation, we now know that some prostate cancers are caused by changes in your genes. 5%-10% of all cancers are hereditary, meaning that certain cancer-causing gene changes are passed down from mothers and fathers to sons and daughters. Another 10%-20% of all cancers are familial, meaning that a type of cancer occurs in multiple family members, but is not directly related to specific gene changes.

Genes are made of DNA, which is the master instruction manual that tells every cell in the body which proteins to make essentially, the information that each cell needs to do its job. A genetic mutation is a change in part of the normal DNA that makes up a gene. Some mutations are hereditary, meaning that they are passed down from one family member to another. Mutations can also be caused after birth by various lifestyle and environmental factors, such as smoking or the UV rays from the sun.

Genetic mutations can be passed down from father to son, father to daughter, mother to son, or mother to daughter. We now know that some of the same gene mutations that cause prostate cancer can also cause other forms of cancer and vice versa. Therefore, it can be important to consider genetic testing if you have a history of cancer in your family, even if its not prostate cancer. This is referred to as genetic testing for an inherited mutation or genetic testing for inherited cancer risk.

Also Check: Where Does Prostate Cancer Usually Spread First

Ready To Take Control Of Your Treatment Plan

Genomics For Life aims to educate patients and their families on their cancer types and empower them with the knowledge to take control of their treatment plans. As each patients case is unique, there is no one size fits all when it comes to testing. We encourage you to contact Genomics For Life, and we can work with you and your oncologist/specialist, to determine what tests would benefit you.

Who Should Get Genetic Counseling For Prostate Cancer

In general, there are three groups of men who should consider genetic counseling and testing for prostate cancer:

  • Men with or without a personal history of prostate cancer who have a family history of prostate, breast, colon, ovarian, or pancreatic cancers, especially if any of these were diagnosed under age 50. Individuals with a genetic mutation may be at risk for more than one type of cancer, so looking at other cancers in the family is important to help determine your risk for a genetic mutation.
  • Men with metastatic prostate cancer. Studies show that genetic mutations may be more common in men with metastatic prostate cancer compared to men with localized disease. These mutations can have implications on their treatment plans.
  • Men who are concerned about their risk factors. If you dont fall into one of the first two groups but are still concerned, make an appointment with a genetic counselor. We can examine your personal and family history to determine whether genetic testing might be beneficial. If you choose to get genetic testing, we can help you interpret the results so you and your family can make informed health care decisions going forward.
  • Read Also: Can The Prostate Grow Back After Surgery

    How We Approach Prostate Biopsies And Prostate Cancer Diagnosis At Ctca

    When you come to CTCA for a prostate biopsy or a second opinion, youll have access to tests that may help increase the accuracy of each biopsy. Our team has expertise with these tests and procedures, allowing us to work quickly and efficiently.

    If youre diagnosed with prostate cancer, a multidisciplinary team of genitourinary experts, which may include a urologist, a urologic oncologist, a radiation oncologist and a medical oncologist, will review your case and develop a personalized plan based on your specific circumstances and needs.

    We only treat cancer at CTCA, which means our cancer experts are skilled at assessing risk associated with each persons circumstances. We give you the pros and cons of the treatment options available to you, allowing you time to talk with your team of doctors and other experts about those options.

    Our cancer experts are also vigilant about what patients need and when they need it. We know that when men are told they have slow-growing prostate cancer, some of them wont keep up with the necessary follow-ups, so we help keep them on track.

    If you choose to receive treatment with us, you may benefit from our integrative approach to cancer treatment. Our multidisciplinary team works together to help prevent and manage the side effects of cancer and its treatment, providing supportive care services, such as:

    Also Check: What Does Psa Stand For In Prostate Cancer

    The Initial Causes Genetic Testing Of Prostate Biopsy

    Prostate Cancer Genetic Testing: How to Hedge Bets in Selecting Patients for Surveillance

    One of the first symptoms of prostate issues is pain or tenderness in the groin or lower back. This can be the result of a noncancerous condition called enlarged prostatic tissue, or it could be an infection of the bladder. In either case, its important to see a doctor as soon as possible. If youre suffering from prostate pain, you may want to consider reducing your caffeine intake.

    Another symptom of a potentially enlarged prostate is difficulty starting a stream of urine, leaking, or dribbling. These symptoms are not serious, but theyre still alarming. Most men put up with an enlarged prostate for years before seeking medical attention, but they typically seek treatment as soon as they notice symptoms. Even if you dont have symptoms, its worth getting checked to determine if you have any prostate issues.

    If you experience nightly bathroom runs, you may be experiencing an enlarged prostate. You may be having difficulty starting a stream of urine, or you may even be dribbling or leaking during the day. These problems arent life-threatening, but can become a nuisance. You should not ignore these signs and seek treatment as soon as you notice them. If you feel any of these symptoms, you should consult a doctor.

    Also Check: Does Prostate Milking Prevent Cancer

    Delivery Care Models For Germline Testing

    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

    What Kind Of Prostate Biopsy Are There

    There are three types of prostate biopsies:

    • Transrectal The most common biopsy procedure, the doctor with the guidance of an ultrasound device inserts needles through the wall of the rectum and into the prostate to take six to twelve samples from different zones of the prostate.
    • Transurethral A lighted tiny lens is inserted into the urethra to allow the doctor to see the prostate and then uses a microscopic cutting loop to take samples of tissue.
    • Transperineal The doctor makes an incision in the perineum and inserts a needle to take tissue cores of the prostate.

    Read Also: Prostate Cancer Spread To Colon

    Recommended Reading: How To Prevent Enlarged Prostate

    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.

    So Based On This What Is My Stage

    Consider Genetic Testing in All Metastatic Prostate Cancers

    For prostate cancer, I will actually use a different terminology: very low, low, intermediate and high risk. This really helps us to determine what treatment options are available. See below for how the risk groups are organized by NCCN Guidelines.

    Very Low risk

    • Fewer than 3 biopsy cores positive
    • Less than 50% cancer in a core
    • PSA density < 0.15
    • Normal prostate exam or a small nodule felt
    • Gleason Score 6
    • Prostate exam will feel a nodule
    • Gleason Score 3+4=7 or 4+3=7
    • PSA 10-20
    • Cancer felt to be just outside the prostate
    • Gleason Score 8 or Gleason 9-10
    • PSA > 20

    Also Check: What Are Some Treatments For Prostate Cancer

    Read Also: Diet For Prostate Cancer Radiation Treatment

    What Abnormal Results Mean

    A positive biopsy result means that cancer cells have been found. The lab will give the cells a grade called a Gleason score. This helps predict how fast the cancer will grow. Your doctor will talk to you about your treatment options.

    The biopsy may also show cells that look abnormal, but may or may not be cancer. Your provider will talk with you about what steps to take. You may need another biopsy.

    Use In Everyday Medical Care

    Current guidelines from leading medical organizations don’t recommend routine use of the Decipher test. But the new study results should prompt these organizations to reconsider such guidelines on the basis of the strength of the evidence, Dr. McGuire wrote. The tests use in everyday medical practice should become commonplace, he added.

    The question of whether hormone therapy should be added to radiation for patients with rising PSA after surgery is a question I see all the time in my practice, Dr. Feng said. My patients very much want to know if hormone therapy has a good chance of benefiting them. Tests like this are important because, if we can provide more information to patients and physicians, they can make better choices together.

    There are still many questions about how to use the Decipher test in different groups of patients with prostate cancer, Dr. McGuire wrote. About 20 ongoing clinical studies are looking to provide some answers.

    One area that needs further study is how well the test works in people of color, Dr. Feng noted. Recent evidence has shown that genetic-based tests can be less useful for people of color if there was a lack of diversity among participants in the studies that were done to develop and validate the test.

    Recommended Reading: Signs And Symptoms Of Prostate Cancer In Males

    Medical History And Physical Exam

    If your doctor suspects you might have prostate cancer, you will be asked about symptoms you are having, such as any urinary or sexual problems, and how long you have had them. You might also be asked about possible risk factors, including your family history.

    Your doctor will also examine you. This might include a digital rectal exam , during which the doctor inserts a gloved, lubricated finger into your rectum to feel for any bumps or hard areas on the prostate that might be cancer. If you do have cancer, the DRE can sometimes help tell if its only on one side of the prostate, if its on both sides, or if its likely to have spread beyond the prostate to nearby tissues. Your doctor may also examine other areas of your body.

    After the exam, your doctor might then order some tests.

    Alternatives To A Prostate Biopsy

    Genetic Testing for Advanced Prostate Cancer (Royal Stage) | Prostate Cancer Staging Guide

    There are many tests that can help diagnose prostate cancer. The prostate biopsy is the only way to confirm if prostate cancer cells are present, other tests can suggest risk or probability.

    Imaging methods like transrectal ultrasound can help learn more about the prostate size and probability of cancer. Nevertheless, the test cannot diagnose the condition.

    Another commonly used test is the Mi-prostate score . It combines results of PSA with PCA3 and T2:ERG genes found in urine and thus helps predict prostate cancer risk with considerable accuracy.

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