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Types Of Genetic Testing For Breast Cancer

What Are The Benefits Of Genetic Testing

Genetic testing for breast cancer patients is becoming more common

For some women, genetic testing may help you make informed medical and lifestyle decisions while easing the anxiety of not knowing their genetic background. You can also make a decision regarding prevention, with both medications and prophylactic surgery. In addition, many women take part in medical research that, in the long run, may lower their risk of death from breast cancer.

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 60 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

Disadvantages Of Genetic Testing

Some genetic test results identify a variation in a gene. But it may not be clear whether it increases your cancer risk or not. This can be difficult to cope with.

You may have a constant worry about developing cancer if the test finds a faulty gene. If the test is positive, you may also need to tell other relatives that they may have inherited the same gene.

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Do I Need Genetic Testing If I Have Metastatic Breast Cancer

If youve been diagnosed with metastatic breast cancer, it may be helpful to learn whether an inherited mutation caused your cancer. Genetic testing can help guide your treatment. Certain cancer drugs only work or are more effective in breast cancers with specific gene mutations.

For example, the PARP inhibitor drugs olaparib and talazoparib are only FDA-approved to treat metastatic breast cancer caused by a BRCA gene mutation. People with these mutations may also respond better to the chemotherapy drug carboplatin than docetaxel.

Your gene status may also help determine what type of surgery you get and whether youre eligible to join certain clinical trials. It can also help your children or other close relatives learn whether they might be at higher risk for breast cancer and need extra screening.

Guidelines from the National Comprehensive Cancer Network recommend genetic testing for people with breast cancer who:

  • were diagnosed at or before age 50
  • have triple-negative breast cancer that was diagnosed at or before age 60
  • have a close relative with breast, ovarian, prostate, or pancreatic cancer
  • have cancer in both breasts
  • are of Eastern European Jewish descent

However, a 2019 guideline from the American Society of Breast Surgeons recommends that all people who are diagnosed with breast cancer be offered genetic testing. Talk to your doctor about whether you should get tested.

What If I Dont Have A Strong Family History

Genetic Testing for Breast Cancer

After looking at your family history, the genetic doctor might tell you that its unlikely that you have an inherited faulty gene. In this case, your risk of cancer is the same as other members of the population.

In certain situations, the genetic counsellor might suggest you have regular screening. This is more likely if members of your family have breast or bowel cancer.

You can find out about this in our information about:

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An Update On Genetic Testing For Breast Cancer Komen Perspectives

The link between family history and breast cancer was well known even before actress Angelina Jolie revealed she had a gene mutation that greatly increased her risk of the disease.

Ms. Jolies story has certainly pushed the issue to the headlines. Its sparked a great deal of interest in genetic testing for breast cancer, leaving many women to ask if it may be right for them and for their families.

In addition, the study of genetics and breast cancer has evolved rapidly over the past decade. In the past, genetic testing looked at only one or two genes, but now panel or multi-gene testing is becoming more common, even though the research in this area is still ongoing.

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

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How Is Genetic Testing For Breast Cancer Performed

Blood is drawn, saliva is taken, or a cheek swab is performed. The sample is sent to a laboratory for genetic testing. Testing is performed to look for specific breast cancer gene mutations. Testing may be specific in that it looks for a specific BRCA mutation when patients have a familial history of it. It may also focus on BRCA mutations that are common in people of Ashkenazi Jewish descent or Eastern European ancestry. If there is no familial history of gene mutations, genetic testing may look for many different gene mutations.

Personal And Family History

Genetic Testing for Breast Cancer

Collecting a personal and family history involves open-ended and targeted questions about personal health and each family member, with consideration of affected and unaffected individuals of paternal and maternal lineage for three generations. Information should include type of cancer, approximate age at diagnosis, current age of the person, or age and year at death. It is useful to obtain information about type of treatment, any germline genetic testing, and any environmental exposures that may have caused the cancer. Professional clinical judgment is often necessary to assess the validity of family health history that is self-reported by a patient or other family member. In some cases, a genetic counselor may try to obtain records or pathology results to corroborate the family history prior to ordering tests.

In addition to collecting a comprehensive family history, the counseling session includes a genetic risk assessment and determination of any appropriate genetic tests. The informed consent discussion includes implications for cancers in other organs as well as the impact on extended family members, regardless of the result. When the primary care team is not comfortable or skilled with this level of detail, a genetic counseling referral will allow for comprehensive care of the patient.

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What Are Genomic Tests

First things firstbefore we compare different genomic testing options, it can help to understand what genomic tests are. Genomic tests are able to detect how active certain genes are in a cancer tumor by analyzing a sample of the tumor.

What the activity level of the genes in a cancer tumor are like can affect how cancer behaves, grows, and spreads. Doctors use genomic test results to help them determine what treatments are necessary to pursue post-surgery.

Can Hboc Be Avoided

There are options available for people with HBOC who are interested in having a child and reducing that childs risk of this hereditary syndrome. Preimplantation genetic diagnosis is a medical procedure done along with in-vitro fertilization . It allows people who carry a specific known genetic mutation to reduce the likelihood that their children will inherit the condition. For PGD, a womans eggs are removed and fertilized in a laboratory. When the embryos reach a certain size, 1 cell is removed and tested for the specific hereditary condition. The parents can then choose to transfer the embryos that do not have the mutation. PGD has been used for over 2 decades for several hereditary cancer syndromes. However, it is a complex procedure with financial, physical, and emotional factors to consider before starting. For more information, talk with an assisted reproduction specialist at a fertility clinic.

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How Does Genetic Testing Work

Testing for BRCA1, BRCA2 and other inherited gene mutations requires a blood or saliva sample.

Its best to have genetic testing done in a clinically-approved lab certified by the Clinical Laboratory Improvement Amendments . You can get this testing through your health care provider or a genetic counselor.

Your health care provider or a genetic counselor can help you understand the test results and give you the most up-to-date medical recommendations.

If you use a direct-to-consumer genetic test, have the findings confirmed by genetic testing done in a clinically-approved lab certified by the CLIA . This ensures the results are complete and correct. Your health care provider or a genetic counselor can arrange this testing for you.

Who Should Consider Genetic Counseling And Testing For Brca1 And Brca2 Variants

Is Genetic breast cancer testing of all women worth the cost?

Anyone who is concerned about the possibility that they may have a harmful variant in the BRCA1 or BRCA2 gene should discuss their concerns with their health care provider or a genetic counselor.

Tests are available to see if someone has inherited a harmful variant in BRCA1 and BRCA2. However, testing is not currently recommended for the general public. Instead, expert groups recommend that testing be focused on those who have a higher likelihood of carrying a harmful BRCA1 or BRCA2 variant, such as those who have a family history of certain cancers. Testing can be appropriate for both people without cancer as well as people who have been diagnosed with cancer. If someone knows they have a mutation in one of these genes, they can take steps to reduce their risk or detect cancer early. And if they have cancer, the information about their mutation may be important for selecting treatment.

Before testing is done, a person will usually have a risk assessment, in which they meet with a genetic counselor or other health care provider to review factors such as which of their relatives had cancer, what cancers they had, and at what ages they were diagnosed. If this assessment suggests that someone has an increased risk of carrying a harmful BRCA1 or BRCA2 gene variant, their genetic counselor can discuss the benefits and harms of testing with them and order the appropriate genetic test, if the individual decides to have genetic testing .

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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.

What Are The Benefits Of Genetic Testing For Brca1 And Brca2 Variants

There can be benefits to genetic testing, regardless of whether a person receives a positive or a negative result.

The potential benefits of a true negative result include a sense of relief regarding the future risk of cancer, learning that one’s children are not at risk of inheriting the family’s cancer susceptibility, and the possibility that special check-ups, tests, or risk-reducing surgeries may not be needed.

A positive test result may allow people to make informed decisions about their future health care, including taking steps to reduce their cancer risk.

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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.

Who Should Consider Genetic Testing

Genetic Testing for Breast Cancer

Genetic testing is only recommended for people whose personal or family history of breast cancer shows they might have a genetic mutation that increases the risk of breast cancer.

For example, testing is recommended if :

  • There is a known BRCA1/2 mutation in your family
  • You had breast cancer at age 50 or younger
  • A woman in your family had breast cancer at age 50 or younger
  • A woman in your family had breast cancer in both breasts
  • A woman in your family had ovarian cancer
  • A man in your family had breast cancer
  • Your family is of Ashkenazi Jewish descent and you or someone in your family had breast cancer

Websites such as the Centers for Disease Control and Preventions Know:BRCA can help you work through your family history to see if testing may make sense. However, such tools should only be a starting place.

There are many things to consider before genetic testing. So, its important to talk in detail with a trained physician or genetic counselor to see if testing is right for you.

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Types Of Genetic Testing Available For Breast Cancer

Breast cancer is the most common form of cancer diagnosed in women in the US. Like many types of cancer, the risk for breast cancer is heavily influenced by a personâs genetics. Whether you have a family member with breast cancer or you want to know more about its causes, letâs understand what science has to say about the genetics behind the disease.

Orchid offers advanced genetic testing for couples who want their child to have the best shot of a healthy life. âGenetics for Humansâ is where we unpack how genetics impacts our everyday lives and the latest tools to help you build a healthier family.

What is breast cancer, and how does it impact individuals?

The breast is made up of several types of tissue that can become cancerousâ lobes produce milk and ducts carry the milk to the nipple.Breast cancers can vary in their aggressiveness, from non-invasive types like ductal carcinoma in-situ , which is restricted to the duct tissue and is generally non-life threatening, to highly invasive carcinomas that spread quickly to neighboring tissues, the lymph nodes, and other organs.

How common is breast cancer?

In the US, breast cancer is the most common form of cancer in women, affecting about 1 in 8 women during their lifetime. In 2020 alone, 276,480 American women were estimated to be diagnosed with breast cancer.

Does breast cancer run in families?

What are the genetic causes of breast cancer?

Single-gene mutations
Combination of many genetic variants

Key takeaways

How Much Does Genetic Testing Cost

According to, the cost of genetic testing for cancer can vary greatly and can be between $300 and $5,000. How much genetic testing costs can depend on the type of test as well as how complex it is.

What exactly is covered will depend on your specific health insurance plan. Many plans will offer some coverage if genetic testing is considered medically necessary.

If youre considering genetic testing for cancer, contact your insurance provider before getting tested. They can help inform you about what is and isnt covered.

Recently, home-based genetic testing has increased in popularity. These tests typically involve using a swab to collect a sample from your mouth. You then mail this sample back and get your results by:

  • mail
  • secure website

You may be curious if home-based genetic tests are good for determining your cancer risk.

Overall, its best to talk with a healthcare professional if youre interested in genetic testing to assess your cancer risk. Some reasons for this include:

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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.39 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 inhibitors4042 and prophylactic breast and/or ovarian surgery. Preventive surgical interventions can reduce breast cancer incidence more effectively than chemoprevention or surveillance.43 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%.44 Breast cancers in BRCA2 carriers are more likely to be estrogen receptor positive and the surgery eliminates the bodys main source of estrogen.

What Genes Are Linked To Breast Cancer

23andMe and breast cancer gene testing: What you should know

The term breast cancer genes means genes that, when altered , increase your risk of getting breast cancer. These gene mutations shut down some of your natural cancer-fighting genes. When you dont have your full army of genes fending off cancer, your risk of certain cancers goes up.

BRCA1 and BRCA2 are the most common breast cancer genes when mutated, followed closely by PTEN mutations, says Dr. Eng. But several other breast cancer gene mutations exist. We know of at least 14 different genes right now, and we are currently exploring several others, too.

These gene mutations arent limited to breast cancer risk. Some of these gene mutations may also increase the risk of:

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