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How Do They Test For Breast Cancer Gene

Genetic Testing All Women For Breast Cancer Might Not Be Worth The Cost

Where To Go For A Breast Cancer Genetic Test

Illustration: Centers for Disease Control and Prevention National Cancer Institute

Women who are carriers of mutated BRCA genes are known to have a significantly higher risk for developing breast and ovarian cancers than those who dont. But a new UCLA study questions the value of screening for the genetic mutations in the general population including those who do not have cancer or have no family history of the disease because of the high cost. The UCLA researchers found that compared with universal screening, other diagnostic tools remain more efficient and might be more cost-effective.

The researchers concluded the BRCA genetic test that is most widely used today, which costs about $4,000, is too expensive to warrant universal screening, given how rare BRCA mutations are. The cost of BRCA testing would need to drop by 90 percent for testing to be cost-effective for the whole population, says Patricia Ganz, MD73 , director of the Division of Cancer Prevention and Control Research at UCLAs Jonsson Comprehensive Cancer Center.

Harmful BRCA gene mutations are more likely to be found in families affected by breast and ovarian cancers, and carriers can pass the mutated genes to both daughters and sons. Those who carry a BRCA mutation are thought to have a 45-to-80-percent lifetime risk of developing breast cancer. Women carrying the BRCA-1 mutation have up to a 39-percent lifetime risk women with BRCA-2 have a 10-to-17-percent lifetime risk for ovarian cancer.

What To Do If Youve Tested Positive

Its natural to feel worried if youve tested positive for a BRCA1, BRCA2, or PALB2 gene mutation. Its true that these gene mutations can significantly increase your chances of developing breast cancer. However, its important to keep in mind that many people who carry such gene mutations never develop breast cancer. Even for those who do, early diagnosis and treatment make it very likely that they will overcome the disease. With early detection, the vast majority of people survive breast cancer and go on to live full, normal lives.

Predictive Genetic Tests For Cancer Risk Genes

Cancer is not usually inherited, but some types mainly breast, ovarian, colorectal and prostate cancer can be strongly influenced by genes and can run in families.

We all carry certain genes that are normally protective against cancer. These genes correct any DNA damage that naturally happens when cells divide.

Inheriting faulty versions or “variants” of these genes significantly raises your risk of developing cancer, because the altered genes cannot repair the damaged cells, which can build up and form a tumour.

BRCA1 and BRCA2 are examples of genes that raise your cancer risk if they become altered. Having a variant BRCA gene greatly increases a woman’s chance of developing breast cancer and ovarian cancer. They also increase a man’s chance of developing male breast cancer and prostate cancer.

BRCA genes are not the only cancer risk genes. Researchers recently identified more than 100 new gene variants associated with an increased risk of breast, prostate and ovarian cancer. Individually, these new gene variants only slightly increase the risk of cancer, but a combination could mean a high risk overall.

If you or your partner have a high-risk cancer gene, such as an altered version of BRCA1, it can be passed on to any children you have.

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What Do The Results Of Genetic Testing Mean

Genetic testing can give several possible results: positive, negative, true negative, uninformative negative, variant of uncertain significance, or benign variant.

Positive result. A positive test result means that the laboratory found a genetic variant that is associated with an inherited cancer susceptibility syndrome. A positive result may:

  • For a person who has cancer, confirm that the cancer was likely due to an inherited genetic variant and help guide treatment choices
  • Indicate an increased risk of developing certain cancer in the future and guide future management to lower that risk
  • Provide important information that can help other family members make decisions about their own health care, such as whether to have genetic testing to see if they have also inherited the variant.

Also, people who have a positive test result that indicates that they have an increased risk of developing cancer in the future may be able to take steps to lower their risk of developing cancer or to find cancer earlier, including:

  • Being checked at a younger age or more often for signs of cancer
  • Reducing their cancer risk by taking medications or having surgery to remove at-risk tissue.
  • Changing personal behaviors to reduce the risk of certain cancers
  • Getting help to guide decisions about fertility and pregnancy

Who Should Be Tested

Cancer Genetic Testing

Genetic testing is only appropriate for a small number of individuals referred to family cancer clinics . Women aged 70 or younger who are diagnosed with ovarian cancer can also receive genetic testing to look for BRCA1 and BRCA2 gene mutations.

The process involves taking blood from the person who has a specific cancer.

Testing may take considerable time. If the faulty gene causing the cancer is found, testing may be offered to other family members who have no signs of cancer.

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What Is The Role Of Genetic Counseling In Genetic Testing For A Hereditary Cancer Syndrome

Genetic counseling is generally recommended before any genetic testing for a hereditary cancer syndrome and may also be performed after the test, especially if a positive result is found and a person needs to learn more about the hereditary cancer predisposition syndrome they have been found to have. This counseling should be performed by a trained genetic counselor or other health care professional who is experienced in cancer genetics. Genetic counseling usually covers many aspects of the testing process, including:

  • The appropriateness of genetic testing and potential harms and benefits of testing
  • The medical implications of positive, negative, and uncertain test results
  • The possibility that a test result might not be informative
  • The psychological risks and benefits of genetic test results
  • The risk of passing a variant to children
  • The impact of testing for the family
  • The best test to perform
  • Explanation of the specific test that might be used and the technical accuracy of the test and their interpretation
  • Genetic counseling may also include discussing recommendations for preventive care and screening with the patient, referring the patient to support groups and other information resources, and providing emotional support to the person receiving the results.

    Genetic Testing For Breast Cancer

    If you are experiencing a medical emergency, please call 911 or seek care at an emergency room.

    The last several years have produced significant advances in the field of genetic testing. Doctors are utilizing preventative measures to decrease cancer risk, and are now using genetic testing to help patients and their families understand their cancer risks. So how does genetic testing work and what are the potential positive outcomes for those with a breast cancer diagnosis? What are the concerns about the risk?

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    When Is Genetic Testing Not Likely To Be Useful

    Genetic testing is unlikely to find a gene mutation that impacts risk reduction, screening or treatment in :

    • Women diagnosed with breast cancer after age 65 who dont have a close family member with breast, ovarian, pancreatic or prostate cancer
    • Men diagnosed with early stage or slow-growing prostate cancer who dont have a close family member with breast, ovarian, pancreatic or prostate cancer

    Risk Factors For Hereditary Cancer

    Determining Your Breast Cancer Risk with Genetics – SLUCare Health Watch

    A hereditary cancer is any cancer caused by an inherited gene mutation. An inherited gene means it is passed from parent to child within a family. The following factors suggest a possible increased risk for hereditary cancer:

    Family history of cancer. Having 3 or more relatives on the same side of the family with the same or related forms of cancer.

    Cancer at an early age. Having 2 or more relatives diagnosed with cancer at an early age. This factor may differ depending on the type of cancer.

    Multiple cancers. When one relative develops 2 or more types of cancer.

    Rare cancers. Some types of cancer, such as ovarian cancer, adrenocortical cancer, or sarcoma, are linked to inherited genetic mutations.

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    If You Were Diagnosed With Breast Cancer In The Past

    If you were diagnosed with breast cancer in the past and were only tested for BRCA1/2 inherited gene mutations , the NCCN recommends you consider expanded panel testing.

    Testing may give you information about your risk of developing another cancer.

    Panel testing may also help your family members better understand their risk of breast cancer and other cancers. In some cases, panel testing may help tailor their cancer screening.

    In most cases, genetic testing results wont likely impact your breast cancer treatment or follow-up care. However, people with metastatic breast cancer who have a BRCA1/2 gene mutation may have a PARP inhibitor drug included in their treatment plan .

    Talk with your health care provider or a genetic counselor about whether it would be useful to have panel testing.

    Are Harmful Variants In Brca1 And Brca2 More Common In Certain Racial/ethnic Populations Than Others

    Yes. The likelihood of carrying an inherited mutation in BRCA1 or BRCA2 varies across specific population groups. While the prevalence in the general population is about 0.2%0.3% , about 2.0% of people of Ashkenazi Jewish descent carry a harmful variant in one of these two genes and the variants are usually one of three specific variants, called founder mutations. Other populations, such as Norwegian, Dutch, and Icelandic peoples, also have founder mutations .

    Different racial/ethnic and geographic populations also tend to carry different variants in these genes. For instance, African Americans have BRCA1 variants that are not seen in other racial/ethnic groups in the United States . Most people of Ashkenazi Jewish descent in the United States who carry a BRCA variant have one of three specific variants . In the Icelandic population, a different variant in BRCA1 is common among those who inherit a mutation in BRCA1.

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    What Other Cancers Are Linked To Harmful Variants In Brca1 And Brca2

    Harmful variants in BRCA1 and BRCA2 increase the risk of several additional cancers. In women, these include fallopian tube cancer and primary peritoneal cancer , both of which start in the same cells as the most common type of ovarian cancer. Men with BRCA2 variants, and to a lesser extent BRCA1 variants, are also at increased risk of breast cancer and prostate cancer . Both men and women with harmful BRCA1 or BRCA2 variants are at increased risk of pancreatic cancer, although the risk increase is low .

    In addition, certain variants in BRCA1 and BRCA2 can cause subtypes of Fanconi anemia, a rare syndrome that is associated with childhood solid tumors and development of acute myeloid leukemia . The mutations that cause these Fanconi anemia subtypes have a milder effect on protein function than the mutations that cause breast and ovarian cancer. Children who inherit one of these variants from each parent will develop Fanconi anemia.

    What Are The Genetic Mutations Linked To Breast Cancer

    With genetic testing, sisters take control of breast ...

    Mutations of genes are like spelling errors in the genetic code of a gene. Those who have a gene mutation may be at higher than average risk for developing certain cancers. A genetic mutation that increases the risk of breast cancer is present in some families.

    BRCA 1& 2

    BRCA1 and BRCA2 are the most common genetic mutations that cause breast cancer. These are short for breast cancer susceptibility gene 1 and breast cancer susceptibility gene 2. The BRCA1 and BRCA2 genes are found in every person.

    The BRCA1 and BRCA2 genes are responsible for the repair of certain types of DNA errors that may happen each time a human cell makes a copy of itself. If the gene does not have a mutation, the BRCA1 and BRCA2 genes help ensure the stability of a cells genetic material, or DNA, and help stop uncontrolled cell growth.

    Mutations of BRCA1 and BRCA2 have been linked to an increased risk for multiple types of cancer, most notably breast and ovarian cancer. Having an inherited mutation in BRCA1 or BRCA2 does not mean a person is guaranteed to develop cancer, but the chances are much higher than for someone who does not have a BRCA1 or BRCA2 mutation. People who inherit a harmful mutation in BRCA1 or BRCA2 have a lifetime risk of developing breast cancer of 50-80%, compared to 13% for an average person without the mutation.

    Other Genes Linked to Breast Cancer

    People can inherit these mutations from their parents, or mutations can happen during a persons lifetime.

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    Does Medicaid Cover Genetic Testing For Breast Cancer

    Medicaid covers genetic testing for breast cancer in all states except three. Those three states are:

  • Alabama
  • These three states do not cover the cost of genetic testing for hereditary cancer risk.

    Multigene panel testing is not covered by most Medicaid programs.

    Despite Medicaid covering breast cancer genetic testing cost more than Medicare and many health insurance providers, there is still a testing eligibility criteria. This eligibility criterion does differ by state. Genetic counselors help people understand if they meet the Medicaid guidelines for genetic testing in their state.

    Genetic Counselling And Testing

    Genetic counselling is recommended before genetic testing to properly assess an individuals true risk and after testing to discuss the significance of results and advise on strategies to manage them.

    Before any testing can take place a genetic counsellor will help you map your family structure and history on both the maternal and paternal sides. This needs to span three generations and each cancer diagnosis in the family must be confirmed.

    If your level of risk meets the criteria for testing, the counsellor will discuss the implications of testing with you so you can make an informed decision about whether or not to proceed. For example:

    • What are the implications of a positive result? A negative result?
    • What if the test doesn’t return a definite result?
    • What are the psychological risks and benefits of being tested?
    • What are the implications for insurance if a mutation is found?

    Harmful gene mutations are relatively rare in the population and they are extremely difficult to detect and interpret, especially in an individual who doesnt have cancer.

    Genetic testing is a complex process and geneticists could find a genetic mutation which has not previously been associated with cancer. This type of test result is reported as a genetic variant of uncertain significance because it isnt known whether this particular gene mutation affects a persons risk of developing cancer.

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    Can I Do Genetic Testing At Home

    Some at-home genetic tests can help you determine breast cancer risk. These tests typically involve providing a sample of saliva or cheek cells and sending the sample by mail to be tested.

    Its recommended that you seek genetic testing from a healthcare professional rather than using an at-home test for the following reasons:

    • an incomplete result: At-home tests may not cover all known variants of a gene, such as BRCA1 or BRCA2. Because of this, a negative result can be misleading.
    • unnecessary alarm: At-home tests may detect common genetic variants that are only associated with a slight increase in breast cancer risk, meaning that a positive result may cause unnecessary alarm.
    • genetic counseling: With genetic testing through a healthcare professional, youll often also have access to genetic counseling both before and after you receive your result. This can help you better understand your result in the context of your overall health.
    • privacy: Your privacy may not be ensured when you use an at-home test. If you do choose to use one, carefully review a companys disclosure policy beforehand.

    Getting genetic testing for breast cancer risk has several benefits. But there are some risks involved as well.

    How Genetic Testing Is Done

    How does genetic testing work for breast cancer patients?

    Genetic testing can be done on samples of blood or saliva, or from a swab of the inside of a cheek. The samples are sent to a lab for testing.

    There are many different possible mutations in the BRCA genes. Testing can look for one specific mutation, or more extensive testing can be done to look for many different BRCA mutations. For example, if someone is being tested because they have a family member with a known BRCA mutation, testing might focus only on that specific mutation. In people of Ashkenazi Jewish descent, testing might focus on the specific BRCA mutations that are most common in this group of people. But if theres no reason to suspect a specific gene change, testing will likely look for many different BRCA mutations. Depending on the situation, testing might be done to look for changes in other genes as well.

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    What Are Some Of The Possible Harms Of Genetic Testing For Inherited Cancer Susceptibility Syndromes

    Genetic testing can have potential emotional, social, and financial harms, including:

    • Psychological stress of learning that one has a genetic variant that increases cancer risk and having to decide whether to share those findings with blood relatives
    • An uninformative test results, such as a report of a variant of uncertain significance , increases uncertainty and may increase stress until results are clarified
    • Survivor guilt upon learning that one doesnt have a harmful variant that is present on other members of the family
    • Cost of testing itself and additional follow-up testing, if not covered by insurance
    • Privacy and discrimination issues

    What These Tests Are Not

    GEP tests look for abnormalities in gene activity within cancer cells, not genes in normal body cells.

    They should not be confused with tests that look for an inherited faulty gene that increases a persons risk of getting cancer in the first place.

    GEP tests are also different to other tests that show whether your cancer is likely to respond to a particular drug. This is generally known as personalised medicine.

    GEP tests are a step towards personalised medicine because they help a doctor to decide who needs further treatment in general. But personalised medicine tests show whether cancer cells have a particular protein that means a specific drug is likely to work.

    An example of this is the Her2 test, this shows whether your breast cancer is likely to respond to trastuzumab .

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