TAKE CONTROL OF YOUR GENES
Know your risk and treatment plan for hereditary breast cancer through genetic testing.
A Message from Cynthia
Stage 2B Survivor, Founder & CEO of Learn Look Locate
“Genetic testing is important if you have a family history of cancer. Getting tested may help you understand your risk for breast cancer, or it can help your physician identify potential treatment options based on your unique genetic markers. I had no idea the importance of genetic testing until after I was diagnosed. I am honored and grateful to work with Dr. DiPasquale and Lauren Sferrazza MS, CGC to help educate everyone on the importance of genetic testing and the genes associated with breast cancer.”
What is Genetic Testing for Hereditary Cancer Risk?
Research has shown that up to 10 percent of cancers are due to factors that are passed from one generation to the next. These syndromes are known as hereditary cancers, and there are genetic tests that can determine an individual’s risk for developing them.
Hereditary cancer genetic testing is a type of genetic test that can help you and your healthcare provider find out if you’re at higher risk for developing cancer due to certain types of genetic changes that may have been passed down through your family.
There are many benefits to getting tested. If one of your family members — however distant — had cancer, there is a chance that you inherited a gene mutation that not only increases your personal risk of cancer but could also be passed to the next generation. Those who are carriers of hereditary cancer gene variants could be at risk of getting cancer earlier in life than the general population. The sooner genetic testing is done, the more likely it is that the risk can be managed appropriately.
- If you have a genetic change, your parents, children, and siblings have a 50% chance of having the same genetic change.
- Other blood relatives (aunts, uncles, and cousins) on the same side of the family are at risk of carrying the same genetic change.
- Testing is the primary way to identify gene changes, which could impact your medical management, including options that may reduce your risk of developing cancer.
Is Testing Recommended for Everyone?
Anyone interested in getting tested CAN get tested. However, only people who have cancer in their family or a personal history of the disease NEED to be tested. If you are not eligible for genetic testing your insurance may not cover the cost, which will require you to pay the full price of the test.
Who is Eligible for Testing?
There are multiple professional societies that make recommendations on who should receive genetic testing. The American Society of Breast Surgeons (ASBrS) recommends testing of ALL patients diagnosed with breast cancer, while other professional societies recommend people with certain types of breast cancer or diagnosed at certain ages receive testing. If you do not have breast cancer, but it runs in your family, it is essential to discuss your family history with your healthcare provider as genetic testing guidelines also include recommendations for testing those with certain family histories of cancer.
Red flags to look out for include
- 1. Cancer diagnosed at an age that is younger than the average age of diagnosis for that specific cancer
- 2. You and/or your family member were diagnosed with a rare cancer like pancreatic cancer or ovarian cancer
- 3. Multiple cancers in the same person or the same cancer type in multiple family members
Why should I get tested?
Join Dr. DiPasquale for a discussion on LLL and genetic testing
“I am beyond honored to join the rockstar team of medical advisors at LLL. In a world of readily available information on the internet this company is the absolute best that I have seen to get the correct, physician-vetted information directly into your hands. Wherever you are on your journey, LLL can be the ultimate source of information to help you gain knowledge and support as well as meet others just like you.”
Frequently Asked Questions
Genetic testing is one of the most valuable tools for identifying and understanding cancer risk, along with providing personalized information to tailor your screening and/or treatment plan.
I do not have cancer, but my family members do, why should I pursue hereditary cancer genetic testing?
Testing for a hereditary cancer risk helps you and your healthcare professional understand your risk, so you can make the best choices for preventative care. Knowing your family history is an important first step, but testing can give you a more accurate picture of your risk. For example, people positive for a mutation or pathogenic variant in the BRCA1 gene are at increased risk for multiple cancers, including breast, ovarian, prostate, and pancreatic. Knowing you are at an increased risk of developing one of these cancers allows your healthcare team to personalize your care, such as recommending annual breast MRI and mammograms which leads to early detection of cancer. Knowing your genetic status allows your team to suggest preventive, prophylactic screening, and procedures that can reduce your risk of developing cancer.
I already have cancer, why should I pursue genetic testing?
Genetic testing allows your healthcare professional to better understand the potential cause of your cancer, along with personalized treatment options. Because these genetic mutations cause an increased risk for multiple cancers, genetic testing can help you understand your risk for developing a second primary cancer. This information can allow you to make the best choices for preventive care.
How do I get tested?
Ask your healthcare professional if genetic testing is right for you. If so, your healthcare professional will draw a small amount of your blood or take a saliva sample and send it to the lab of choice. Although saliva samples are just as accurate as blood samples, sometimes saliva samples may not collect enough DNA to complete the test and a blood sample may be needed.
Testing can be ordered by many healthcare providers, such as primary care doctors, OBGYNs, oncologists and surgeons. Genetic counselors are specially trained healthcare professionals that specialize in genetics and are available to answer questions related to genetic testing and your test results. To find a genetic counselor near you please visit here.
Are all tests created equal?
The short answer is NO. Today, popular retail genealogy companies offer personalized health insights in addition to helping customers track their family lineages. Direct-to-consumer genetic tests can provide an idea of what your risk level might be for certain diseases, including breast cancer, but their results do not include a comprehensive look at the gene or alterations which can impact cancer risks. If you have received this type of testing, it is important to note that it may not provide a full picture of risk.
Medical grade genetic tests are designed to give healthcare providers and patients the most accurate answer possible. As the science of genetics continues to evolve, genetic testing companies are constantly reviewing and evaluating new developments and providing insights for personalized treatment
What is the cost of genetic testing?
Most patients with insurance coverage and who meet genetic testing criteria pay $0 for genetic tests. Those who are uninsured or under-insured have affordable options through Financial Assistance Programs, such as reduced or eliminated out-of-pocket costs based on income and household size.
What are the Possible Results?
Genetic testing reports typically provide results in three main categories: Positive, Negative, or VUS (Variants of Unknown Clinical Significance).
Positive
A positive result means your test found a variant in a specific gene that is associated with a hereditary cancer syndrome. This may indicate an increased risk of developing cancer in the future and can be used to guide medical management. It is important to remember that testing positive does not mean you will develop cancer but rather shows that your risk for developing cancer is significantly increased. For patients with a cancer diagnosis, these results may guide eligible treatments. It is important to discuss these results with your ordering healthcare provider to determine the most appropriate screening and treatment options based on your results and personal/family history. It’s also important to let your family members know your results, so they can pursue genetic testing for the same variant.
Genetic Counselors are a good resource for individuals who want to understand more information about their positive genetic testing results. Genetic Counselors are specially trained healthcare professionals that specialize in genetics and discussions about genetic testing.
Negative
A negative result means no genetic variants associated with hereditary cancer syndrome have been found in the genes analyzed. Negative results rule out hereditary cancer, but cancer can still occur due to other factors such as the environment or family history. A negative result does not mean someone cannot develop cancer during their lifetime, but rather they do not have a hereditary cancer syndrome that would greatly increase their risk. All appropriate cancer screening options should still be discussed with your healthcare provider.
Variant of Unknown Clinical Significance (VUS)
A VUS result means that your test found a variant in a gene that has an unclear association with cancer risk. The reason it is called of unknown clinical significance is because there is not enough information to indicate if the variation causes an increased risk to develop cancer-we are unsure if there is any clinical significance to this change. More information about the variant is needed to better understand its association with cancer. It is important to note that individuals carry MANY variants, and variants are common. The reason this variant is being called out on a test report is because it is in a gene that has a known link to hereditary cancer risk.
VUS results are typically managed the same as negative results as most (90%) of VUS are not cancer causing. Many labs regularly review VUS and reclassify results when they know the variant is a negative (benign) genetic change or whether it is associated with cancer.
Genes Associated with Breast Cancer
There are over 10 genes currently being tested in many labs with a known association to breast cancer. Knowing the status of these genes through genetic testing can help you manage your risk for developing breast cancer and can guide treatment options such as targeted therapies and surgical treatments.
As of, January 1, 2024, the following genes are linked to an increased risk of developing breast cancer and have increased screening and treatment recommendations if you are positive for a variant.
| Gene | Breast Cancer Risk | Management |
|---|---|---|
| ATM | Up to 30% | Annual Mammogram at 40+ consider breast MRI w/ contrast at 30-35. No recommendation for risk-reducing mastectomy. |
| BARD1 | Up to 30% | Annual Mammogram and consider breast MRI w/ + w/o contrast at 40. No recommendation for risk-reducing mastectomy. |
| BRCA1 | >60% Up to 1.2% by age 70 (Male Breast) |
Extensive guidelines include screening recommendations, treatment indications and risk reducing surgeries |
| BRCA2 | >60% Up to 7.1% by age 70 (Male Breast) |
Extensive guidelines include screening recommendations, treatment indications and risk reducing surgeries |
| CDH1 | Up to 60% | Annual mammogram and consider breast MRI w/ + w/o contrast starting at 30. Discuss option of risk-reducing mastectomy. |
| CHEK2 | Up to 40% | Annual Mammogram and consider breast MRI w/ + w/o contrast at 30-35. No recommendation for risk-reducing mastectomy. |
| NF1 | Up to 40% | Annual mammogram starting at age 30 and consider breast MRI w/ + w/o contrast ages 30-50 |
| PALB2 | Up to 60% .9% by age 70 (Male Breast) |
Annual mammogram and breast MRI w/ + w/o contrast at 30. Discuss option of risk-reducing mastectomy. |
| PTEN | Up to 60%, possibly >60% | Extensive guidelines include screening recommendations, and risk reducing surgeries |
| RAD51C, RAD51D | Up to 30% | Annual mammogram and consider breast MRI w/ and w/o contrast at 40 |
| STK11 | Up to 54% | Extensive guidelines include screening recommendations, and risk reducing surgeries |
| TP53 | >60% | Extensive guidelines include screening recommendations, and risk reducing surgeries |
Table Adapted from Societal Guidelines and only highlights breast cancer risk associated with these syndromes. For information about additional cancer risk please speak with your healthcare provider.
As cancer research evolves, our understanding of hereditary cancer risk and associated genes changes. Click here for more information about genes linked to hereditary cancer risk.
Please note that data changes regularly and it is recommended to check the most recent guidelines and recommendations here and have further discussion with your healthcare provider.
Knowledge is Power
Knowing if you are at higher risk for developing cancer allows you to make potentially life-saving medical decisions. You and your healthcare provider can work together to create a personalized plan to help reduce your risk of developing cancer or increase the likelihood of finding cancer at an earlier and more treatable stage.
Your personalized prevention or treatment plan may include the following:
Additional screening
Additional or modified screening such as increased mammograms or the addition of breast MRIs may find cancer at an earlier and more treatable stage.
Risk-reducing medications
There are medications that can lower your risk for certain cancers.
Risk-reducing surgery
Certain surgeries can greatly lower your risk.
Treatment options
If you’ve been diagnosed with cancer, your test results may help determine appropriate treatment options for you.
Preventative Genetic Testing for Breast Cancer
Discussion with Lauren Sferrazza about preventative genetic testing, genetic testing that is done before somebody develops cancer. Lauren Sferrazza, MS, BCGC, is a Medical Science Liaison at Myriad and is a Board-Certified Genetic Counselor by training.
This page is sponsored by Myriad Genetics. Find out if you are meet criteria for the Myriad Genetics MyRisk® Hereditary cancer test.