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How Does Genetic Testing For Breast Cancer Work

What Does High Risk For Breast Cancer Really Mean

How does genetic testing work for breast cancer patients?

One out of every eight women will develop breast cancer in their lifetime this is considered average risk for U.S. women. High risk for breast cancer is defined as a greater than or equal to 20% lifetime risk, or in other words, a one in five chance of developing breast cancer over a lifetime. We all know someone a coworker, family member such as a mother, sister, daughter or friend that has been diagnosed with this disease.

Thats why for decades, October and the color pink have gone hand in hand to promote Breast Cancer Awareness. Regular screenings and a healthy lifestyle have been shown to reduce a womans risk for developing breast cancer. In addition to these important actions, you need to be aware of our own individual lifetime risk for breast cancer. Summa Health answers your top questions about what it means to be high risk and how you can take charge of your breast health this month and every month to reduce your risk of breast cancer or detect it at its earliest stages when it is most treatable and curable.

How do I know my risk for Breast Cancer?

The risk for breast cancer is not the same for all women, as it depends on your individual health history and family history. A high risk designation can be determined by one factor or a combination of factors.

What factors increase my risk for Breast Cancer?

Considering Genetic Counseling And Testing For Breast Cancer Risk

If you have breast cancer or a family history of breast cancer, talk with your doctor. As a first step, your doctor might use one of several risk assessment tools that are now available. These mathematical models use your family history and other factors to help give you and your doctor a better idea about your risk of having a BRCA mutation. But the tools aren’t perfect, and each one might give different results, so doctors are still trying to figure out how best to use them.

Regardless of whether or not one of these tools is used, your doctor might suggest you could benefit from speaking with a genetic counselor or other health professional who is trained in genetic counseling. They can review your family history in detail to see how likely it is that you have a family cancer syndrome such as HBOC. The counselor can also describe genetic testing to you and explain what the tests might be able to tell you, which can help you decide if genetic testing is right for you.

Its very important to understand what genetic testing can and cant tell you, and to carefully weigh the benefits and risks of genetic testing before these tests are done. Testing can cost a lot, and it might not be covered by some health insurance plans.

If you do decide to get tested, the genetic counselor can also help explain what the results mean, both for you and possibly other family members. To learn more about genetic testing in general, see Genetics and Cancer.

Genetic Testing For Cancer Risk

Predictive genetic testing is the type of testing used to look for inherited gene mutations that might put a person at higher risk of getting certain kinds of cancer. This type of testing might be advised:

  • For a person with a strong family history of certain types of cancer, to see if they carry a gene mutation that increases their risk. If they do have an inherited mutation, they might want to have tests to look for cancer early, or even take steps to lower their risk. An example is testing for changes in the BRCA1 and BRCA2 genes in a woman whose mother and sister had breast cancer.
  • For a person already diagnosed with cancer, especially if there are other factors to suggest the cancer might have been caused by an inherited mutation . Testing might show if the person has a higher risk of some other cancers. It can also help other family members decide if they want to be tested for the mutation.
  • For family members of a person known to have an inherited gene mutation that increases cancer risk. Testing can help them know if they need tests to look for cancer early, or if they should take steps to try to lower their risk.

Most people do not need this type of genetic testing. Its usually done when family history suggests theres a cancer that may be inherited .

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Risk Assessment And Preventive Strategies

Genetic testing is a component of risk assessment used to prevent breast cancer and to guide treatment decisions for newly diagnosed patients. A test result can be negative , positive , or a variant of uncertain significance . The latter means that a genetic change was identified, but it is unknown whether this variant may alter the individuals risk of cancer.

When BRCA testing is used for risk assessment in asymptomatic individuals, those who test positive for a risk-increasing mutation may consider several preventive strategies. The most common strategy is increased surveillance, which includes breast MRI, annual mammography and semiannual clinical breast exam. Other risk-reducing measures include chemoprevention with selective estrogen receptor modulators or aromatase inhibitors and prophylactic breast and/or ovarian surgery. Preventive surgical interventions can reduce breast cancer incidence more effectively than chemoprevention or surveillance. Surgical interventions include bilateral total mastectomy, which reduces the risk of breast cancer in high-risk women by 90%. Bilateral oophorectomy may also reduce the risk of breast cancer in BRCA2 carriers by 72%. Breast cancers in BRCA2 carriers are more likely to be estrogen receptor positive and the surgery eliminates the bodys main source of estrogen.

Can Children Have A Cancer Gene Test

How Do Single

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

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People Who Are Considering Having A Genetic Test To Identify Brca Genes Or Other Mutations Related To Cancer Often Wonder How Much A Test Will Set Them Back

Because there are many factors at play when it comes to determining the cost of genetic testing, its hard to give a specific amount. People who are considering taking a DNA test through their health professionals office can expect testing to range anywhere from $300 to $5,000.

If, instead, you are not high risk and you choose to go with an at-home DNA testing kit, prices vary by company at-home kits are much less expensive, often ranging in price from $100 to $300. However, it is important to remember that this testing may not be appropriate for you based on your personal or family history.

What Evidence Is There That All Breast Cancer Patients Should Be Tested

The American Society of Breast Surgeons recommends that all breast cancer patients undergo genetic testing. This recommendation is based on a 2018 study that found that patients with breast cancer who met NCCN testing criteria had similar rates of pathogenic or likely pathogenic hereditary mutations as those who did not meet the NCCN criteria 3.

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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.

A Genetic Counselor Weighs In On Genetic Testing For Breast Cancer

Genetic Testing for Breast Cancer Susceptibility | Webinar | Ambry Genetics

When Angelina Jolie discovered through genetic test results that she inherited the BRCA1 genetic mutation, her decision to have a preventative double mastectomy made headlines in 2013. Her frank message to the public explaining her decision helped increase awareness of the connection between certain genetic mutations and the increased risk of hereditary breast and ovarian cancer. Many women considered what they would do in her shoes.

Approximately 281,550 women will be diagnosed with breast cancer in 2021 in the United States, according to the National Cancer Institute , making it the second most common cancer in women. Approximately 5 to 10 percent of those diagnoses are caused by hereditary factors.

The average woman has an approximately 13 percent chance of developing breast cancer during her lifetime. But if youre one of the 1 in 500 women who carry a BRCA gene mutation, your lifetime risk rises to about 70 percent. Many women wonder whether genetic testing for breast cancer is something they need or should consider.

Genetic testing looks for an inherited susceptibility or predisposition for cancer. It may identify an increased risk of developing a first or second cancer in a persons lifetime, but its not a guarantee of present or future cancer.

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How Do You Get Started

If you believe genetic testing for breast cancer is right for you and your family, you can easily schedule an appointment with one of Arizona Oncology’s Genetic Counselors or Nurse Practitioners. Please note that you do not need to be a current patient of Arizona Oncology in order to undergo genetic testing at one of our cancer centers.

Before testing, you will complete a short family history survey that will help your genetic counselor select the best gene panel for you. Your genetic counselor will then go over your family and personal medical history with you as well as discuss your genetic testing options. After the results are received, the genetic counselor will thoroughly discuss the results, what they mean, and schedule an in-office follow-up visit if results are positive.

Arizona Oncology is Arizona’s leader in genetic testing. Our compassionate team will walk you through every step of the process, from deciding if genetic testing is right for you, to helping you interpret the results and offering genetic counseling if desired. Contact us today to learn more about our breast cancer genetic testing program.

Who Will Be Offered Genetic Testing

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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Brenda Dixon 65 Georgia

Two days after Brenda Dixon, a retired Georgia Public Health Medical Laboratory technologist, had her annual mammogram, she got a call saying that they had found something on her scans. The mass was at 12 oclock on her right breast and roughly 5 mm in size. She was told that she needed to come back in for further testing so that they could determine whether it was a benign cyst or cancerous. So Dixon went back in to see her doctor and have an ultrasound. Two days later she received her results: It was Stage I breast cancer and it was hormone receptor positive, which is a slow growing, non-aggressive type of cancer.I remember seeing the number on the caller ID and knew it couldnt be good, says Dixon.

I will never forget that call. I was happy that they at least caught the cancer early, so I felt some relief, but the stress and anxiety of the cancer was still building. It was devastating.

Dixons physician explained that genetic testing was an option, and one that she should take, considering there was a history of cancer on her fathers side.

During her lumpectomy, the doctor also took out her sentinel lymph node, which is located in the underarm closest to the breast cancer to check and see if the cancer had spread. Thankfully Dixons lab results came back clear, and she will be soon be starting radiation. Her team has not yet determined if she will need chemotherapy.

When A Family Member Has An Inherited Gene Mutation

Genetic testing does not cause undue worry for breast ...

Just because one person in the family has an inherited gene mutation doesnt mean everyone in the family has the mutation. Only identical twins have the exact same genes. Other family members share some, but not all, of their genes.

For example, if your mother has a BRCA1 gene mutation, theres a 50 percent chance youll have a BRCA1 mutation .

If your family members with breast cancer or ovarian cancer arent alive or arent willing to be tested , a genetic counselor can help you decide if it would be useful to have BRCA1/2 testing or expanded panel testing.

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Stage One A Full Screen

The first stage of testing is to try to find out if one of the known altered genes runs in your family.

Altered genes can be difficult to find and it is much easier to find an altered gene in someone who has already been diagnosed with breast or ovarian cancer.

If you have been diagnosed with breast or ovarian cancer then the test can be done on you. If you havent had breast or ovarian cancer and no one in your family who has is available for testing, you may be able to have the test yourself. Your genetic counsellor will be able to tell you if this option is available.

The test involves taking a blood sample and sending it to a laboratory where the DNA is tested for the known altered genes. The results from this test are usually available within two to three months.

A positive result

If an altered gene is found, your genetics team will then know which one runs in your family and can search for it more easily in other family members .

A negative/inconclusive result

As it can be hard to find an altered gene, sometimes a genetic test produces a negative/inconclusive result. This means a known altered gene hasnt been found, but your family history may still be due to an altered gene that hasnt been identified yet. You will continue to be managed as high risk.

A variant of unknown/uncertain significance

What Are The Possible Results Of A Genetic Test

Patients are sometimes disappointed to find that the results of genetic testing may not be clear and may not provide the answers theyre looking for. Possible test results and what they mean include:

  • Positive: A positive test result means we found an inherited risk for cancer.
  • Negative: A negative test result means we found no differences in any of the genes that we looked at.
  • Inconclusive: An inconclusive test result means we found a genetic difference thats unclear. This result may also be called a variant of uncertain significance. This means we’re not sure whether the difference we found could contribute to the development of cancer.

When someone tests negative for a known mutation in their family, this is called a true negative test result. The vast majority of people with true negative test results are at average risk for cancer.

Sometimes negative and inconclusive results are referred to as uninformative results, meaning the genetic testing did not provide an explanation for the personal or family history of cancer. This means we found a difference in a gene, but its impact on that gene’s function, and therefore the risk for cancer, is unknown.

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Who Can Be Tested For Inherited Faulty Genes

You may be eligible for an NHS genetic test if cancer runs in your family and you are worried you may get it too. The test can tell you whether you have inherited a faulty gene that increases your risk of cancer.

Testing for genes that increase the risk of cancer is called predictive genetic testing. A positive result means you have an increased risk of developing cancer. But it doesn’t mean that you have cancer or will definitely develop it.

You may be eligible for an NHS genetic test if:

  • an inherited faulty gene has already been found in one of your relatives or
  • there is a strong family history of cancer in your family

You need to be referred for genetic testing by a specialist doctor .

You can have private genetic testing. But you need to think about this carefully. You can find out more about private genetic testing at the bottom of this page.

At the genetic clinic, you see a genetic specialist or counsellor. They will:

  • look in detail at your family history
  • work out your risk of developing cancer
  • work out whether you need a genetic test

Your first appointment might be at the clinic or over the phone. During this meeting, the counsellor will ask you questions about any members of your family who have had cancer. And how old they were when diagnosed.

Your genetic clinic appointment is your chance to ask questions. If youre not sure what to ask you can look at our questions for your doctor.

You could print them out and add any other questions that you might have.


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