How Testing Can Help If Youve Already Been Diagnosed
If youve been recently diagnosed with breast cancer, your doctor may recommend genetic testing depending upon your age at diagnosis, your family history, what type of breast cancer you have and other factors.
However, some organizations, including the American Society of Breast Surgeons, say testing should be made available to all women after a breast cancer diagnosis regardless of family history and cancer subtype and a growing number of physicians are offering patients the choice. The genetic testing would be in addition to biopsy results that reveal which type of cancer you have or a tumor-profiling test that looks for specific mutations in tumor cells.
Genetic testing can help you and your health care provider make decisions about treatment. If you need chemotherapy, for example, your test results can help determine which specific drugs the tumor is most likely to respond to. And women with some gene mutations can benefit from a new type of medication called PARP inhibitors. Personalized medicine this is really what were moving towards, Larsen Haidle says.
A positive test result may also influence a womans decision about surgery.
Take Ellen Rostker, 59, of Ann Arbor, Michigan. She was diagnosed with stage 2 breast cancer in her left breast in late 2020. Both her oncologist and her surgeon recommended genetic testing before her surgery.
Im so glad I had the testing because it made my surgery decision so much easier, Rostker says.
Genetic Counseling And Testing For Breast Cancer Risk
Some people inherit changes in certain genes that increase their risk of breast cancer . Genetic testing can look for mutations in some of these genes. While it can be helpful in some cases, not everyone needs to be tested, and each person should carefully consider the pros and cons of testing. Its very important to understand what genetic testing can and cant tell you before these tests are done.
How Is Hboc Identified
Mutations in the BRCA1 or BRCA2 genes can be identified through a blood or saliva test. The usual method of testing, called standard gene sequencing, can find most BRCA mutations. There are other types of mutations called rearrangements, which include deletions or duplications in BRCA1 and BRCA2 that also may cause an increased risk for these cancers. Testing is also available for large rearrangements in BRCA1 and BRCA2.
After initial BRCA1 and BRCA2 genetic testing, additional testing may be recommended if:
- The results were negative, meaning no genetic mutation was detected
- A variant of uncertain significance was detected, which means that there is a genetic change, but it is not known how that change could affect cancer risk
Talk with your health care team and/or a genetic counselor for more information.
Most, but not all, insurance providers, including Medicare and Medicaid, cover the cost of complete BRCA1 and BRCA2 testing. Many genetic specialists offer multigene panels, which may include 6, 20, 40, or more genes depending on your personal and family history. The multigene panel tests may often be done at the same time as BRCA1 and BRCA2 testing. Talk with your genetic counselor for more information on the type of testing you will have and your insurance coverage before testing begins.
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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.
Other Cancer Risks For People With Hboc
Anyone with mutations in the BRCA2 gene may be at an increased risk of other types of cancer, including melanoma and pancreatic, stomach, esophageal, and bile duct cancers.Mutations in other genes may be associated with an increased risk of developing breast and other cancers, including the Li-Fraumeni syndrome , Cowden syndrome, and others. The pattern of cancers in the family is often a clue to the specific gene that may explain the hereditary cancer for that family. Multigene panels are available for people with a strong personal and family history of cancer. Multigene panel tests include BRCA1 and BRCA2 and many other genes that increase the risk of breast, ovarian, and other cancers. If your BRCA1 and BRCA2 test was negative, then you may or may not have mutations in other genes. A newer type of testing, called next generation sequencing, massively parallel sequencing, or deep sequencing, has made testing for multiple genes at the same time faster and less expensive. If a genetic mutation is found, this could explain the cancers in a specific family and provide information about who is at risk and the appropriate types of monitoring and prevention/risk reduction methods.
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What Is Genetic Testing
Genetic testing looks for specific inherited changes in a persons genes. Genetic variants can have harmful, beneficial, neutral , or unknown or uncertain effects on the risk of developing diseases. Harmful variants in some genes are known to be associated with an increased risk of developing cancer. These inherited variants are thought to contribute to about 5 to 10% of all cancers.
Cancer can sometimes appear to run in families even if it is not caused by an inherited variant. For example, a shared environment or lifestyle, such as tobacco use, can cause similar cancers to develop among family members. However, certain patterns that are seen in members of a familysuch as the types of cancer that develop, other non-cancer conditions that are seen, and the ages at which cancer typically developsmay suggest the presence of an inherited susceptibility to cancer.
Genes involved in many of the known inherited cancer susceptibility syndromes have been identified. Testing whether someone carries a harmful variant in one of these genes can confirm whether a condition is, indeed, the result of an inherited syndrome. Genetic testing is also done to determine whether family members who have not developed a cancer have inherited the same variant as a family member who is known to carry a harmful variant.
Genetic Testing For Breast/ovarian Cancer Risk
It is possible to detect mutations in some cancer predisposing genes. Some mutations may not be detected using current technology.
Genetic testing involves first searching for a gene mutation. The genes most commonly tested are BRCA1 and BRCA2. After genetic counselling, a sample of blood is usually taken from a woman in the family who has developed breast cancer or ovarian cancer. The DNA is searched for a gene fault. This testing may take some months.
If a gene fault is not detected after a mutation search, then testing for the family should be considered as inconclusive. However, if a fault is detected, then other family members can be tested to see if they carry the same gene fault or not. The testing for other family members is known as predictive genetic testing. This is a relatively quick test since the laboratory only has to determine the presence or absence of the family gene mutation in a predictive test.
Genetic testing is offered only through a family cancer clinic. If a woman is referred to a family cancer clinic, the availability, limitations, potential benefits, and possible consequences of genetic testing will be discussed with her.
*In July 2011, National Breast and Ovarian Cancer Centre amalgamated with Cancer Australia to form a single national agency, Cancer Australia, to provide leadership in cancer control and improve outcomes for Australians affected by cancer.
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Should My Children Be Tested
Genetic testing is not available to children under 18 years of age. Since the cancers associated with hereditary breast and ovarian cancer typically occur in adulthood, test results will not change the health care provided to children. Those being tested should be old enough to decide whether or not genetic testing is right for them, as it can impact their lives on many levels.
Do I Need Genetic Testing For Breast Cancer
Why Breast Cancer Genetic Testing Could Benefit More Women
Breast and ovarian cancer survivors and women from certain ethnic backgrounds should be evaluated for possible genetic screening, according to new guidelines.
For more than 20 years, experts have recommended genetic screening for breast cancer for certain women who have a family history of breast or ovarian cancer. Now the U.S. Preventive Services Task Force says women who have survived breast or ovarian cancer and women with Ashkenazi Jewish ethnicity might also benefit from screening.
These women should talk to their primary care providers about genetic counseling and testing. Primary care providers are recommended to look for red flags for hereditary cancer, says John Zimmerman, M.S., a certified genetic counselor at UT Southwestern Medical Center. These red flags include breast cancer diagnosed before age 50, multiple family members with breast cancer, the presence of breast and ovarian cancer in a single individual, and Ashkenazi Jewish ancestry. The presence of these red flags should prompt a referral to a genetic counselor to discuss how genetic testing might help them.
Genetic testing can help clarify the level of cancer risk a woman faces. Depending on the gene, a woman might face up to a 60% risk of breast cancer in her lifetime if she tests positive.
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How Can I Determine If The Breast Cancer In My Family Is Hereditary
Important factors in determining if the breast cancer in a family is hereditary include: the age of onset of breast cancer the presence of certain other types of cancer in a family and the number of relatives with cancer and their relationship to you. A genetic counselor will look at your family’s medical information including the medical information on first-degree relatives , second-degree relatives, and third-degree relatives .
How Do I Interpret The Genetic Test Results
A negative genetic test means that a breast cancer gene mutation was not identified. If other genetic testing has identified a mutation in your family, a negative test means you do not have the specific mutation. Therefore, your risk of cancer is the same as someone in the general population who has a family history of breast cancer.
If a BRCA1 or BRCA2 mutation has not been previously found in your family, a negative result should be interpreted cautiously. There is still a chance that you may be at higher risk for breast cancer because of changes in genes other than those that doctors can test for.
A positive test result means that a mutation known to raise the risk of breast and ovarian cancer was identified.
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Why It Is Done
A BRCA gene test is done to find out if you have BRCA gene changes that increase your risk of breast and ovarian cancer.
The results of a BRCA gene test can help you find out how high your cancer risk is. If it is high, you might decide to take steps to lower your risk. There are several things you might do, such as:
- Have checkups and tests more often.
- Have surgery to remove your breasts.
- Have surgery to remove your ovaries.
- Take medicines that may help prevent breast cancer.
If you have a family member who has breast or ovarian cancer, you may want to ask that family member to have a gene test first. If your relative’s test finds a changed BRCA gene, you and other family members can then be tested for that specific gene change. But if your family member’s test is negative, it is not likely that you carry the gene change.
What If I Dont Have A Strong Family History
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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Preparing For Your Appointment
In advance of your appointment, you may want to collect information about your family history. Specifically, our genetic counsellors will be asking about the types and ages at diagnosis of cancer for your relatives. There may be some information you do not know, but any information you provide can be helpful.
If your appointment is a telephone consultation, you will be called at the number provided on your referral at the date and time of your appointment. Please note, all hospital phone numbers display as private numbers.
If this appointment is scheduled in person, please arrive 10 minutes prior to your scheduled appointment with your valid OHIP card. The Familial Breast Cancer Clinic is in the main Mount Sinai Hospital building at 600 University Avenue. Take the Murray street elevators to the 12th floor, and check-in at the Marvelle Koffler Breast Centre reception desk.
Appointments typically take approximately 30-60 minutes.
Cancer genetic testing is a laboratory test that reads our DNA to search for mutations in genes that can cause a higher risk to develop cancer. . It is important to know that not all breast cancers are hereditary. In fact, most cancers happen sporadically – due to environmental exposures, lifestyle factors, or by chance. It is possible that genetic testing will not show a mutation in the genes tested.
Individuals who are eligible for entry into this program are:
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.
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Genetic Mutations Linked To A Higher Risk Of Breast Cancer
Scientists studying cancer genetics continue to find and evaluate inherited mutations that may increase a familys cancer susceptibility.
The inherited genes most commonly tested because of their association with an increased risk of breast cancer include:
BRCA1: Between 55 percent to 72 percent of women who inherit the BRCA1 genetic mutation will develop breast cancer during their lifetime, according to the NCI. These same women have a 39 percent to 44 percent chance of developing ovarian cancer, compared to approximately 1.2 percent of women in the general population.
BRCA2: Between 45 percent to 69 percent of women who inherit the BRCA2 genetic mutation will develop breast cancer in their lifetime. Their risk of developing ovarian cancer ranges from 11 percent to 17 percent.
Women with BRCA1 and/or BRCA2 mutations are also at increased risk for pancreatic cancer.
Men who inherit one of these BRCA genetic mutations are at higher risk of developing male breast cancer, as well as pancreatic cancer and prostate cancer.
CHEK2: About 1 percent of people carry this mutation. Its more common than the BRCA mutations, but the risk of developing a cancer associated with it is lower. A woman with a mutation in the CHEK2 gene has a 23 to 48 percent lifetime risk of developing a first breast cancer and a 29 percent chance of developing a second breast cancer within 10 years of the first.
Having this mutation is also associated with a higher risk of colon cancer.
How Is Genetic Testing Done
Genetic tests are usually requested by a persons genetic counselor, doctor, or other health care provider who has reviewed the individuals person and family history. The genetic test options from which a health professional may select include those that look at a single gene and those that look for harmful variants in multiple genes at the same time. Tests of the latter type are called multigene tests.
Testing is done on a small sample of bodily fluid or tissueusually blood, but sometimes saliva, cells from inside the cheek, or skin cells. The sample is then sent to a laboratory that specializes in genetic testing. The laboratory returns the test results to the doctor or genetic counselor who requested the test. It usually takes several weeks or longer to get the test results.
Health insurance typically covers genetic counseling and many genetic tests, if they are considered medically necessary. A person considering genetic testing should discuss costs and health insurance coverage with their doctor and insurance company before being tested.
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Consider Your Personal And Family History
Not everyone who has had breast cancer or who has a relative with breast cancer needs to have a breast cancer genetic test.
You may be a candidate for genetic testing for BRCA mutations if any of your relatives know they carry a mutation. Or if you, or any of your first degree relativesparents, siblings, and childrenhave any of the following:
A diagnosis of breast cancer at age 50 or earlier.
Triple negative breast cancer at age 60 or earlier.
More than one case of breast cancer or cancer in both breasts.
For those of Ashkenazi Jewish heritage, breast or ovarian cancer at any age.
A diagnosis of ovarian cancer.
If you have been diagnosed with breast, ovarian or pancreatic cancer, and two other relatives on the same side of your family also have one of those cancers , it may also be a sign that youre a candidate for BRCA testing.
Finding out you have a genetic mutation can help your other family members decide if they should get tested, because they may be at higher risk. And even if you already have cancer, knowing your BRCA mutation status can inform the decisions you make about treatment. For instance, a woman with breast cancer and a BRCA mutation may consider removing her ovaries, to reduce the risk of ovarian cancer.