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What Genes Are Tested For Breast Cancer

Do You Need Genetic Testing For Breast Cancer

Cancer Gene Testing For Breast Cancer Risk In Family

Being able to identify if youre at increased risk for breast cancerbecause of family history is powerful.

Youve seen reports about women with a family history of breast cancer choosing preventive surgery to significantly reduce their breast cancer risk. Since your grandmother, mom or sister has had breast cancer, its got you wondering: Do you need genetic testing to find out if youre more likely to develop the disease?

Being able to identify if youre at increased risk for breast cancer because of family history is powerful, says Banu Arun, M.D., professor in Breast Medical Oncology and Clinical Cancer Prevention, and co-medical director of Clinical Cancer Genetics at MD Anderson. If your chances for developing the disease are higher, you have options to reduce those chances by up to 95%, Arun says.

Yet, most cancer cases arent related to family history. Only about 5 to 10% of cancer cases are related to genetics, Arun says. This means that genes linked to cancer pass from one blood relative to another.

Below, Arun shares the information you need to decide if genetic testing for breast cancer is right for you.

Know your familys cancer history

You can start to understand your risk for inherited breast cancer by mapping your familys cancer history.

Check for these factors to determine if you may be at risk:

Discuss your family history with your doctor

Understand the genes linked to breast cancer

Assess genetic testing pros and cons

Genetic Testing For Hereditary Breast And Ovarian Cancer

Genetic testing is available for hereditary breast and ovarian cancer. Most breast and ovarian cancer is not caused by inherited mutations, so genetic testing will not help most women with a family health history of breast and ovarian cancer. Genetic testing will not identify the cause for some hereditary breast and ovarian cancers, because the genes affected in these cancers are not yet known.

Genetic counseling before genetic testing for hereditary breast and ovarian cancer is important to determine whether you and your family are likely enough to have a mutation that it is worth getting tested. Usually, genetic testing is recommended if you have:

  • A strong family health history of breast and ovarian cancer
  • A moderate family health history of breast and ovarian cancer and are of Ashkenazi Jewish or Eastern European ancestry
  • A personal history of breast cancer and meet certain criteria
  • A personal history of ovarian, fallopian tube, or primary peritoneal cancer
  • A known BRCA1, BRCA2, or other inherited mutation in your family

The BRCA1 and BRCA2 genes

Genetic counseling after genetic testing is important to help you understand your test results and decide the next steps for you and your family:

  • What it means for your family:
  • If other family members decide to get genetic testing, their test should check for the same mutation you have.
  • Your parents, children, sisters, and brothers each have a 1 in 2 chance of having the same mutation.
  • What it means for you:
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    For a woman with a lower risk mutation, we might recommend starting yearly mammograms a little earlier than age 40 and adding in other screening tests, such as a breast MRI. A woman with a higher risk mutation might consider a medicine such as tamoxifen or raloxifene, which reduces breast cancer risk by blocking the action of estrogen in breast tissue. If the concern is high, I may even recommend discussing the option of having a preventive double mastectomy. That might sound drastic, but preventive surgery can save livesespecially when you take into account that the risk of developing breast cancer at some point in your lifetime if you have a BRCA mutation can be anywhere from 65% to 80%. Even in the setting of a BRCA mutation, mastectomy is not the only option. Intensive screening and medication approaches can also be appropriate.

    If you do undergo genetic testing and dont have any of these mutations, that doesnt mean that youre completely in the clear, either. There may still be some genetic mutations we just dont know about. Having any first-degree relative with breast cancer almost doubles a womans risk, according to the American Cancer Society. And if you have two first-degree relatives, that raises it threefold. Thats why its so important to talk with your health care provider to understand your risk of breast cancer and which of these approaches might reduce your risk.

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    Can Children Have A Cancer Gene Test

    Children under the age of 18 cannot usually be tested. This is because anyone having a genetic test needs to be old enough to make their own choice about whether to have the test or not. They also need to be able to understand the possible benefits and risks that having the test might have on them and their family members.

    The exceptions to this are tests for genes that can cause cancer at a young age and for which there is screening that works well. These include:

    • familial adenomatous polyposis

    Why Do Some People Decide Not To Have The Test

    Chromosomal Differences

    After looking at the advantages and disadvantages of testing, some people choose not to have a genetic test. They may feel that they dont want to know if they have a higher than normal cancer risk.

    Some people decide they dont want any preventative treatment even if they have a faulty gene. So they may not feel they have anything to gain by having the test.

    Only you can decide what is best for you.

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    What Are The Potential Problems With Genetic Testing

    Genetic testing is not 100% accurate. If a test is negative, a person still has a chance of getting breast cancer. If the test is positive, there is still a 15% to 20% chance of not getting breast cancer.


    Genetic testing is costly, ranging from about $400 to more than $3,000, depending on the type of test. Insurance coverage varies.

    The results of genetic tests won’t be available for several weeks. The length of time it takes to get results depends on the tests performed and under what circumstances they are done.

    Genetic testing is very controversial. Legislation has been enacted to protect people who may have a documented genetic risk of cancer from employment or insurance problems. The best thing you can do is to become involved with an established genetic registry that can counsel people who have a genetic risk for cancer.

    Genetic Testing For Cancer Risk

    • Some people have an inherited gene fault that can increase the risk of developing certain types of cancer

    • Tests are available on the NHS that look for specific inherited faulty genes

    • You can also have a test that looks at all your genetic material at the same time. This is called whole genome sequencing

    • You need to consider important issues before deciding to have a genetic test

    Also Check: Chances Of Getting Breast Cancer Twice

    Black Women Need Genetic Testing For Breast Cancer Too

    Study shows genetic counseling and tests are key for Black and White women to predict the risk for developing breast cancer.

    Researcher: Julie Palmer, ScDInstitution: Trustees of Boston UniversityArea of Focus: Population ScienceGrant Term: 1/1/2018 to 12/31/2021

    Black women who participate in the American Cancer Societys Cancer Prevention Study-3 and Cancer Prevention Study-II and who supplied blood samples were part of this important research.

    This study provides evidence to promote health equity in genetic counseling and testing to help determine the risk of developing breast cancer. Our CPS-II and CPS-3 participants willingness to donate their time and information contributed to this pivotal finding, which could improve the lives of many Black women in the future by reducing disparities in breast cancer care and outcomes.Lauren Teras, PhD, Scientific Director and lead for breast cancer research, Population Science, American Cancer Society

    The Challenge: In women with ancestors from Europe, at least 10 gene mutations, in addition to BRCA1 and BRCA2, have been associated with an increased risk of breast cancer. Yet, theres limited data about genetic risks in women with ancestors from African, including African American women.

    Understanding genetic factors also helps guide treatment for women who develop breast cancer.

    Online Tools To Help You Talk With Your Health Care Provider

    New Guidelines Advise More Women Need To Get Breast Cancer Gene Test | NBC Nightly News

    There are a few online tools to help you talk with your health care provider about your risk of having a BRCA1/2 inherited gene mutation and your risk of breast cancer.

    Keep in mind online tools cant tell you whether or not you have a BRCA1/2 gene mutation or if you will get breast cancer. However, they may help you talk with your health care provider or a genetic counselor about these risks.

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    Genetic Testing For Breast Cancer

    KENNEWICK, WA Breast cancer is the most frequently diagnosed cancer among women in Washington state and the second leading cause of cancer death.

    New U Womens Clinic and Aesthetics is one of the few clinics in our region to offer specialized genetic counseling and testing services. That includes testing like the hereditary caner testing and expanded carrier screening.

    Dr. Racheal Fidino, with the clinic, specializes in things like breast cancer risk assessment, hereditary cancer syndromes and cancer genetics.

    If you have a concerning family history of breast cancer, Dr. Fidino said it puts you at higher risk for developing the disease. If you are under the age of 50 and have a history of breast cancer, you automatically qualify for genetic testing.

    If anybody has a person history. We want to see what potentially caused it, i think a lot of patients are looking for the missing puzzle piece why did this happen to my family or why did i get diagnosed, Dr. Fidino said.

    She is currently working with state senator Sharon Brown to sponsor a bill requiring insurance coverage to include MRIS and other screening measures for women with dense breasts or other risk factors.

    Who Should Be Tested For Brca

    While BRCA1 and BRCA2 gene mutations may increase your odds of developing breast cancer, your odds of having either mutation are pretty small. An estimated 0.25% of the general population carries a mutated BRCA gene, or about one out of every 400 people.

    For some people, though, the chances of having a BRCA gene mutation are much higher. Genes are inherited, which is why knowing your family history is important when determining breast cancer risks. If one of your parents has a BRCA mutation, you have a 50% chance of inheriting the mutated gene.

    Odds can also vary depending on a persons ethnicity. For example, people of Ashkenazi Jewish descent have a 2.5% chance of inheriting a BRCA mutation, or about 10 times the rate of the general population.

    Because the overall odds are so low, most experts recommend that only people with a heightened risk get tested for BRCA mutations. Likewise, insurance companies often only cover genetic counseling and testing for individuals who are at high risk. A person could be considered at high risk for BRCA mutations if they have a family history of:

    There are also other gene mutations besides BRCA that could increase the risk of breast cancer. The most prominent of these is PALB2. As with BRCA1 and BRCA2, testing for other genetic mutations is recommended only if you are at high risk for that particular gene.

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    Breast Cancer Screening For Women With Other High

    There are special screening recommendations for women with some other inherited gene mutations linked to breast cancer, including:

    • ATM
    • PTEN
    • TP53

    Data on these gene mutations and their related breast cancer risks are still emerging and will likely change over time as more is learned.

    A womans personal risk factors and family history of cancer also impact breast cancer screening recommendations.

    Learn more about the cancer risks related to these inherited gene mutations.

    Who Will Be Offered Genetic Testing

    Is Genetic breast cancer testing of all women worth the ...

    If you have been assessed as being at high risk of breast cancer, you may be offered genetic testing to find out if you have inherited an altered gene. This is usually known as being a gene carrier. The most common inherited altered genes are called BRCA1, BRCA2 and TP53.

    Your genetics team will tell you if genetic testing is an option for you. Genetic testing will try to find out if there is a known altered gene that runs in your family. If genetic testing is an option for you, it is your decision whether or not to have the test.

    In the NHS, genetic testing is usually only available through a genetics centre and after youve had genetic counselling. However, at some hospitals pre-test counselling and genetic testing may be provided by the breast and gynaecology specialist teams , and if post-test counselling is needed this would be done by the genetics team.

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    How Much Does Genetic Testing For Breast Cancer Cost

    The cost of genetic testing for breast cancer risk varies based on the extent of the testing. Testing for common harmful variants in BRCA1 and BRCA2 may be less expensive than a test that looks at multiple genes.

    Genetic testing for breast cancer risk can cost anywhere between $300 to $5,000. Ask a healthcare professional or genetic counselor about whats included in a test and how much it will cost.

    Many health insurance plans will cover genetic testing if its determined to be medically necessary. Its important to check with your insurance provider about whats covered beforehand.

    Here are the next steps you should take depending on whether youre deciding to take a genetic test or have already received results.

    Breast Cancer Subtypes And Inherited Mutations

    Cancers diagnosed in people with BRCA mutations often have specific characteristics:

    • 60% to 80% of the breast cancers in women with a BRCA1 mutation are triple negative, as discussed above.

    • 70% to 80% of the breast cancers in women with a BRCA2 mutation are estrogen receptor-positive, progesterone receptor-positive, and HER2-negative.

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    Mutations That Increase Breast Cancer Risk

    The majority of breast cancer patients are the only member of their family with breast cancer and most cases are attributed to environmental or lifestyle factors. Fewer than 15% of women with breast cancer have a first-degree relative with this disease, and only a small fraction of the population carries inherited germline mutations that increase their lifetime cancer risk. Several genes associated with an increased risk of breast cancer have been identified. The level of increased risk and type of cancers that occur in a family will vary with the particular gene involved. Mutations in each gene are rare, however collectively these mutations account for a significant amount of hereditary cancer susceptibility in the population.

    Who Should Consider Genetic Testing For Cancer Risk

    New at-home genetics test helps check for breast cancer genes

    People who are concerned about whether their family history puts them at risk for cancer should consult with a genetic counselor.

    The features of a persons personal or family medical history that, particularly in combination, may suggest a hereditary cancer syndrome include:

    • Cancer was diagnosed at an unusually young age
    • Several different types of cancer occurred in the same person
    • Cancer in both organs in a set of paired organs, such as both kidneys or both breasts
    • Several first-degree relatives have the same type of cancer family members with breast or ovarian cancer family members with colon cancer and endometrial cancer
    • Unusual cases of a specific cancer type
    • The presence of birth defects that are known to be associated with inherited cancer syndromes, such as certain noncancerous skin growths and skeletal abnormalities associated with neurofibromatosis type 1.
    • Being a member of a racial or ethnic group that is known to have an increased risk of having a certain inherited cancer susceptibility syndrome and having one or more of the above features as well
    • Several family members with cancer

    If a person in the family has already been found to have an inherited cancer susceptibility syndrome, then any family members who could have inherited the variant should consider genetic testing, even if they have not had a cancer. Knowing about their risks may help them to prevent a future cancer.

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    Does Health Insurance Cover The Cost Of Genetic Testing For Brca1 And Brca2 Variants

    People considering BRCA1 and BRCA2 variant testing may want to confirm their insurance coverage for genetic counseling and testing. Genetic counselors can often help answer questions about insurance coverage for genetic testing.

    Some genetic testing companies may offer testing for inherited BRCA1 and BRCA2 variants at no charge to patients who lack insurance and meet specific financial and medical criteria.

    What To Think About

    Genetic counselling before and after a BRCA test can help you understand the benefits, risks, and possible outcomes of testing.

    • To find doctors who do gene tests and counselling, contact your local chapter of the Canadian Cancer Society at www.cancer.ca.
    • To find a genetic counsellor near you, contact the contact the Canadian Association of Genetic Counsellors at www.cagc-accg.ca.
    • Breast Cancer Risk: Should I Have a BRCA Gene Test?

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    Who Might Benefit From A Test

    If your ancestry is 100% Ashkenazi Jewish, having a negative test result for the most common breast cancer-related mutations from a test like 23andMe will significantly reduce the likelihood that you have a hereditary predisposition, Senter said. But it still doesn’t rule it out.

    There are a lot of factors that contribute to a person’s risk for cancer: Age, gender, hormonal and reproductive factors, diet and exercise, said Tanya Eble, manager of the adult genetics service at Baylor College of Medicine in Houston, Texas, and a certified genetic counselor.

    So someones risk to develop cancer isn’t as black and white as just a genetic test result in itself, she noted.

    When it comes to breast cancer, only about 5% to 10% of cases are thought to be hereditary, according to the American Cancer Society.

    If you’re truly concerned about your risk and have a family history, a clinically validated test would be the best option, Senter advised. Having a conversation with your doctor before proceeding can be helpful to find out what testing is most appropriate.


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