When you get a genetic test, the results are deeply personal, but they also tell a story about your family. Because genes are shared, the information in your report has implications for your parents, siblings, and children. Sharing this knowledge can be one of the most powerful things you do, giving your loved ones the opportunity to be proactive about their own health. Of course, starting these conversations can feel complicated. This article will help you sort through the details, not only for your own peace of mind but also to help you talk with your family. A key part of understanding genetic test results for breast cancer is knowing how to share this important information with the people you care about most.
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Key Takeaways
- Understand the three possible outcomes: A genetic test can result in a positive, negative, or a Variant of Uncertain Significance (VUS) finding. Each result has unique implications for your health, so it’s crucial to discuss the specifics with your doctor instead of making assumptions.
- Your results help personalize your medical care: This information allows you and your healthcare team to move from a general health strategy to a customized one. This can mean changing your screening schedule, discussing preventive options, or tailoring cancer treatments to your specific genetic makeup.
- Sharing your results can help protect your family: Since hereditary gene mutations are shared among relatives, your test results contain valuable information for them too. Informing your family gives them the chance to speak with their own doctors about their risk and potential testing.
What are genetic tests for breast cancer?
Genetic testing for breast cancer is a way to look at your DNA for specific changes, called mutations, that can be passed down through a family. Think of your genes as instruction manuals for your body’s cells. When there’s a mutation in a certain gene, it’s like a typo in the manual, and the instructions don’t work quite right. This can increase your risk of developing certain types of cancer, including breast cancer.
The most well-known genes linked to breast cancer are BRCA1 and BRCA2. Everyone has these genes, and their job is to help repair DNA damage and prevent tumors from growing. When you have an inherited mutation in one of them, that protective function is less effective. While these are the most common genes tested, they are not the only ones. Modern genetic tests often look at a whole panel of genes at once to get a more complete picture of your inherited risk.
It’s important to remember that having one of these gene mutations does not mean you will definitely get cancer. It simply means your risk is higher than average, and this information can empower you and your healthcare team to make a proactive plan for your health. Understanding your genetic makeup is one more tool you can use to stay on top of screenings and preventive care.
Should you consider genetic testing?
Deciding to get a genetic test is a personal choice, and it’s a conversation you should have with your doctor or a genetic counselor. They can help you understand your personal and family history to see if testing is a good option for you. Many people with a family history of breast or ovarian cancer have discussed genetic testing with their doctors.
You might consider genetic testing if you have:
- A personal history of breast cancer, especially if you were diagnosed before age 50.
- A close relative (like a mother, sister, or daughter) diagnosed with breast cancer before age 50.
- A personal or family history of ovarian, pancreatic, or metastatic prostate cancer.
- A male relative with breast cancer.
- Ashkenazi Jewish ancestry, as certain mutations are more common in this population.
What genes are tested besides BRCA?
While BRCA1 and BRCA2 get most of the attention, our understanding of genetics has grown significantly. We now know about many other gene mutations beyond BRCA that can affect your breast cancer risk. Because of this, doctors often recommend multi-gene panel tests, which look for mutations in several different genes at the same time.
Some of the other genes included in these panels are PALB2, CHEK2, ATM, TP53, and PTEN. Like the BRCA genes, these genes are involved in cell growth and DNA repair. A mutation in any of them can increase your lifetime risk of developing breast cancer and potentially other cancers. Knowing about these specific mutations helps you and your doctor create a more personalized screening and prevention plan.
What are the three types of genetic test results?
After you have genetic testing, your results will fall into one of three categories: positive, negative, or variant of uncertain significance (VUS). Each one provides different information about your genetic makeup and potential cancer risk. Understanding what each result means is the first step in working with your healthcare team to create a personalized health plan that feels right for you. Let’s walk through what each of these results means for you and your health.
What a positive result means
A positive result means the test found a specific, inherited change (also called a mutation) in one of your genes that is known to increase the risk of developing cancer. This doesn’t mean you have cancer or will definitely get it, but it does mean your risk is higher than average. This information is powerful because it helps you and your doctor make informed decisions. A positive result can clarify your risk for breast cancer and potentially other cancers, such as ovarian, pancreatic, or prostate cancer. Learning about understanding genetic test results can help you prepare for conversations with your doctor about next steps for screening and prevention.
What a negative result means
A negative result means the test did not find any known mutations in the genes that were analyzed. If you have a family history of a specific gene mutation and you test negative for it, this is called a “true negative.” This is reassuring news, as it means your cancer risk is likely similar to that of the general population. However, it’s important to remember that this result only applies to the genes that were tested. You can still develop cancer, so it’s essential to continue with regular screenings and maintain a healthy lifestyle. Discussing your genetic test results with a provider can help you understand your overall risk.
What a VUS (variant of uncertain significance) result means
Receiving a VUS result can feel confusing, but it’s quite common. It means the test found a gene change, but researchers don’t yet have enough information to know if it affects your cancer risk. Think of it as an “inconclusive” finding for now. Most VUS results are eventually reclassified as harmless as more research becomes available. Because the significance is unknown, a VUS result typically doesn’t change your medical care plan. Your doctor will continue to make recommendations based on your personal and family health history. It’s a waiting game, but you and your healthcare team can manage this uncertainty together.
What does a positive result mean for your breast cancer risk?
Receiving a positive result from a genetic test means that a specific change, or mutation, was found in a gene linked to a higher risk of developing breast cancer. While this news can feel overwhelming, it’s important to remember that this is powerful information. It doesn’t mean you have cancer or will definitely get it. Instead, it gives you and your healthcare team a clearer picture of your personal risk, allowing you to make proactive and informed decisions about your health. This knowledge is the first step toward creating a personalized plan for screening and prevention.
How BRCA1 and BRCA2 affect your risk
BRCA1 and BRCA2 are the most well-known genes associated with hereditary breast cancer. If your test shows a positive result for a mutation in one of these genes, it means you have a gene change that significantly increases your lifetime risk of developing breast and other cancers. For women, this can mean up to a 72% chance of developing breast cancer, compared to about 12% for the average woman. It also increases the risk for ovarian, pancreatic, and prostate cancer, as well as melanoma. Knowing you carry one of these mutations is a key piece of your health puzzle, helping you and your doctor plan for more frequent or specialized screenings.
How other gene mutations can affect your risk
While BRCA1 and BRCA2 get the most attention, they aren’t the only genes that can impact your breast cancer risk. Genetic panels often test for a range of other genes, including ATM, PALB2, CDH1, CHEK2, and TP53. A positive result for a mutation in any of these other genes also means you have an increased risk of developing breast cancer and sometimes other types of cancer. Each gene carries a different level of risk and may be associated with different cancers, so it’s important to discuss the specifics of your result with your doctor or a genetic counselor. They can explain what the particular finding means for you.
How a positive result can guide your medical decisions
A positive genetic test result is more than just a number; it’s a guide for your future medical care. This information helps you and your doctor build a personalized health plan. You have several options to lower your cancer risk, which may include starting screenings at an earlier age, having them more often, or adding different types of imaging, like a breast MRI. It can also open the door to risk-reducing medications or preventive surgeries. If you have been diagnosed with breast cancer, your result can even help doctors choose specific treatments, such as PARP inhibitors, that are more effective against cancers caused by certain gene mutations.
How should you interpret a negative genetic test result?
Receiving a negative genetic test result can bring a wave of relief. It feels like good news, and in many ways, it is. However, a negative result isn’t always a simple “all clear.” It’s important to understand what this result means for your health and what it doesn’t. The interpretation can depend a lot on your personal and family health history. Talking with your doctor or a genetic counselor is the best way to put your specific results into context and create a health plan that feels right for you. They can help you sort through the details and understand your individual risk for breast cancer, even with a negative result in hand.
What a negative result does and doesn’t tell you
A negative result means that the test did not find any known, harmful mutations in the specific genes it looked at. Think of it this way: the lab searched for specific, well-documented genetic changes linked to a higher risk of breast cancer and didn’t find any of them. This is often reassuring information.
However, it doesn’t mean you have zero risk of developing breast cancer. Most breast cancers are not hereditary. A negative result also doesn’t rule out the possibility of having a mutation in a gene that wasn’t included in your test panel or a mutation that science has not yet discovered. Genetic testing for cancer is a powerful tool, but it only provides answers about what is currently known.
Why you may still be at risk for breast cancer
Your personal and family health history still play a huge role in your overall breast cancer risk. If you have a strong family history of breast cancer but your test result was negative, it’s considered an “uninformative negative.” This means that while no known mutation was found, there might be a genetic factor in your family that current tests can’t detect. In this case, your doctor will likely still consider you to be at a higher risk based on your family history.
On the other hand, if a specific gene mutation is known to run in your family (for example, your mother has a BRCA1 mutation) and you test negative for that same mutation, that is considered a “true negative.” This is very good news, as it means you did not inherit that specific high-risk gene. Your risk of breast cancer is likely the same as the general population’s.
What are the limits of genetic testing?
It’s helpful to remember that genetic testing has its limits. The technology is constantly evolving, but it can’t identify every single genetic change that might contribute to cancer risk. As we discussed, a negative result doesn’t give much new information if you already have a strong family history of cancer but no known mutation has been identified in your family.
Sometimes, a test finds a genetic change, but experts aren’t sure if it affects your cancer risk. This is called a variant of uncertain significance (VUS), which is neither a positive nor a negative result. Genetic testing is complex, and the results are not always a straightforward “yes” or “no.” That’s why follow-up conversations with a genetic counselor are so valuable for understanding what your results truly mean for you.
What should you do if you get a VUS result?
Receiving a genetic test result that isn’t clearly positive or negative can feel confusing, but it’s a common outcome. A Variant of Uncertain Significance, or VUS, simply means that a change was found in one of your genes, but researchers don’t yet have enough information to know if that specific change affects your risk of developing cancer.
Think of it as an “in-between” result. It doesn’t mean you have a higher risk, nor does it mean you don’t. It just means more research is needed. Your medical team will typically not recommend major medical decisions, like preventive surgery, based on a VUS result alone. Instead, they will base your screening plan on your personal and family health history.
Why VUS results happen and what they mean
A VUS result occurs when genetic testing identifies a change, or variant, in a gene, but science hasn’t yet determined its effect on health. Our understanding of genetics is constantly growing, and there are countless variations in human genes. Most of these variations are harmless, but some can be linked to a higher risk of certain diseases. A VUS is a variant that is still under investigation.
It’s important to remember that a VUS is not a positive result. It simply signals an area of uncertainty. Getting one is quite common, and it’s a normal part of the genetic testing process as scientists continue to learn more about how our genes work. Your genetic test results are a snapshot in time, reflecting current scientific knowledge.
How VUS classifications can change over time
One of the most important things to know about a VUS is that its classification can change. As researchers gather more data from more people, they may be able to determine if your specific variant is benign (harmless) or pathogenic (harmful and associated with increased cancer risk). Over time, many VUS results are reclassified, and a large number of them are ultimately found to be harmless.
This is why staying in touch with your healthcare provider or genetic counselor is so important. The laboratory that performed your test will update your provider if the classification of your variant changes. This process can take years, but it’s a key part of understanding genetic test results and managing your long-term health.
How to manage uncertainty with a VUS result
Living with uncertainty can be challenging, but you can take proactive steps. The best first step is to have a detailed conversation with your genetic counselor and oncologist. They can explain what the VUS means in the context of your personal and family medical history and help you create a screening plan that feels right for you.
It’s also a good idea to check in with your provider every couple of years to see if there have been any updates on your variant. Your healthcare team is there to help you through this process and provide guidance. While you wait for more definitive information, you can focus on the risk factors you can control and follow the personalized screening plan recommended by your doctor for understanding your genetic test results.
How do your results change your medical care?
Genetic test results are more than just information; they are a practical tool for shaping your health plan. They provide you and your healthcare team with a clearer picture, allowing you to make proactive and personalized decisions. This knowledge is empowering because it helps you move forward with confidence. Whether you are looking at your future risk or currently have a cancer diagnosis, these results can directly influence your medical care. The changes often fall into three key areas: how you are monitored for cancer, what preventive steps you might consider, and if you have cancer, which treatments might be most effective for you. Think of it as shifting from a general health plan to one that is highly customized to your unique genetic makeup. Your doctor will use this information to discuss new options and next steps, ensuring your care is as precise as possible. This is one of the most significant benefits of genetic testing, as it helps align your care with your specific biological profile. It’s about taking control of what you can and working with your team to build the safest path forward.
Your new screening and monitoring plan
If your test comes back positive for a gene mutation, your screening plan will likely change. Instead of starting mammograms at a standard age, your doctor might recommend you begin much earlier, sometimes as young as 25. You may also need more frequent check-ups, like a clinical breast exam every six months. Your plan could also include different types of imaging, such as adding a breast MRI to your yearly mammogram for a more detailed look. These changes are designed to catch any potential issues as early as possible, which is a key part of managing a higher risk. Your doctor will help create a new screening schedule that’s right for you.
Considering preventive surgery
A positive genetic test result also opens up conversations about preventive measures, including surgery. Some people with a high-risk mutation choose to have a risk-reducing mastectomy, which is surgery to remove both breasts. This can significantly lower the chance of developing breast cancer. It’s important to remember that this is a deeply personal choice with physical and emotional considerations, and it’s not the only option. Other strategies, like taking certain risk-reducing medications, may also be part of your prevention plan. Your healthcare team can walk you through the pros and cons of each approach to help you decide what feels right for you.
How results can guide treatment if you have cancer
If you already have a breast cancer diagnosis, your genetic test results can be a powerful tool in shaping your treatment. Knowing you have a specific gene mutation, like in BRCA1 or BRCA2, helps your oncology team select the most effective therapies. For example, certain cancers with these mutations respond very well to a class of drugs called PARP inhibitors. This genetic information allows for a more personalized treatment approach, moving beyond one-size-fits-all care. It helps ensure you’re getting a treatment plan targeted to the specific biology of your cancer, which can lead to better outcomes.
What are your next steps after getting your results?
Receiving your genetic test results can bring up a mix of emotions and a lot of questions. It’s completely normal to wonder, “What now?” The good news is that these results are not just a piece of information; they are a tool. They can help you and your healthcare team create a proactive, personalized plan for your health. Think of this as the next chapter in managing your well-being, one where you have more knowledge to guide your decisions. The key is to work closely with your medical providers to understand what these results mean specifically for you and to map out a clear path forward.
How to talk to your healthcare team
Genetic test results can be complex, and it’s important not to try and interpret them on your own. Your first step should be to schedule a follow-up appointment to discuss them with your doctor or a genetic counselor. Before your appointment, it can be helpful to write down any questions you have. No question is too small. This conversation is your opportunity to fully understand your results and what they mean for your health. Your healthcare team can translate the technical language of the report into clear, actionable information that applies to your life and your medical history.
Making a personal screening and prevention plan
Your genetic test results are a key piece of the puzzle in creating a health plan that’s right for you. If you test positive for a gene mutation like BRCA1 or BRCA2, your lifetime risk of developing breast cancer could be higher. Because of this, your doctor may recommend a more personalized screening schedule. This could mean starting mammograms at an earlier age, having them more frequently, or adding other imaging tests like a breast MRI to your yearly plan. If you have already been diagnosed with breast cancer, these results can also help guide your treatment plan.
How a genetic counselor can help
A genetic counselor is a specialist trained to help you make sense of genetic information. They play a vital role both before and after testing. If you haven’t spoken with one already, now is a great time. A genetic counselor can walk you through your report, explain the specific risks associated with your results, and discuss the potential health implications for you and your family members. They provide a supportive space to process this information and can connect you with resources. This kind of genetic counseling is key to making informed decisions about your future health and prevention strategies.
Should you share your genetic test results with family?
Receiving your genetic test results can feel very personal, but the information has ripple effects for your family. Sharing what you’ve learned is your decision, but it can be one of the most helpful things you do for your relatives. Because you share genes, a mutation found in your DNA could also be present in theirs. This information allows them to make proactive decisions about their own health. It opens up a conversation that could have a lasting, positive impact on their well-being.
How your results can affect your family
Your genetic makeup is a family affair. If your test is positive for a gene mutation linked to breast cancer, like BRCA1 or BRCA2, your biological children have a 50% chance of having that same mutation. This knowledge is powerful, as it can help them understand their own health risks. It’s not just about your children, either. Your parents and siblings may also carry the same gene mutation. That’s why it’s so important for your close relatives to understand their own risks and consider getting tested themselves. Sharing your results gives them this opportunity.
Deciding who to tell in your family
Thinking about who to tell and how to tell them can feel overwhelming, and it’s okay to take your time. Generally, it’s a good idea to start with your closest relatives, like your parents, siblings, and children, as they are the most likely to be affected. From there, you can consider extending the conversation to other family members like aunts, uncles, and cousins. It’s important to share your results with family members, since they could also be at risk. You don’t have to tell everyone at once; you can approach these conversations one at a time.
How to support family members who may need testing
Starting this conversation can be tough, but your support can make a huge difference. You can help by explaining what your results mean in simple terms and encouraging your relatives to speak with their own doctors. It’s important to discuss with them how BRCA gene changes can affect cancer risk and what their options are for testing. For many families, speaking with a genetic counselor is also incredibly helpful. A counselor can provide guidance, answer questions, and help your family members understand what the results might mean for them. Offering to share resources can be a wonderful way to show your support.
Clearing up common myths about genetic testing
Genetic testing can feel like a big step, and it’s easy to get tangled up in confusing information. Let’s clear the air and look at what these tests really tell you about your health. Understanding the facts can help you feel more confident as you talk with your healthcare team and make decisions that are right for you.
What genetic tests can (and can’t) predict about your risk
It’s a common belief that a genetic test can tell you for sure whether you will get breast cancer. The truth is, these tests aren’t a crystal ball. They look for specific inherited changes (mutations) in your genes, like BRCA1 and BRCA2, that are known to increase the risk of developing certain cancers.
If you test positive for a gene mutation, it means you have a higher chance of developing breast cancer, but it is not a guarantee. Many people with these mutations never get cancer. Think of it as information about risk, not a diagnosis. For those who already have breast cancer, these results can also help your doctor choose the most effective treatment options.
Why genetic testing is more than just a “yes” or “no” answer
Genetic test results are not always a simple positive or negative. Sometimes, the result is a “variant of uncertain significance,” or VUS. This means a change was found in one of your genes, but at this time, experts don’t know if it affects your cancer risk or if it’s just a harmless variation that makes you unique.
Receiving a VUS result can feel confusing, but it’s quite common. Most of these variants are eventually found to be harmless as more research becomes available. Because the results can be complex, it’s so important to understand your genetic test results with the help of a genetic counselor or your doctor. They can explain what your specific results mean for you and your family.
Moving forward with your health plan
Getting your genetic test results is a major step, but it’s just one part of your health journey. Now you can use this information to create a proactive plan with your healthcare team. This plan is about more than just medical appointments and screenings. It’s also about finding the resources and support you need to feel confident and cared for as you move forward. Taking the time to learn about new research and connect with others can make a big difference in how you manage your health and well-being.
How to stay informed about new research
The field of breast cancer genetics is always evolving, which means your care plan may evolve, too. Staying informed can help you have more productive conversations with your doctor about your health. Researchers are constantly making top breast cancer research advances that help define and reduce risk. Plus, new technologies like artificial intelligence are providing new insight into how breast cancer cells behave and respond to treatment.
Your healthcare team is your best resource for understanding what new findings mean for you. You can also follow reputable organizations online for updates. This knowledge can empower you to ask informed questions and feel like an active partner in your healthcare decisions.
Finding support for your emotional well-being
It’s completely normal to feel a wide range of emotions after getting your results, from relief to anxiety. Whatever you’re feeling is valid. Finding the right emotional support is just as important as your medical plan. Many people find comfort in talking with a genetic counselor or a mental health professional who can help them process the information.
Connecting with others who have similar experiences can also be incredibly helpful. Support groups, either online or in your community, provide a safe space to share your thoughts and learn from others. Remember, you don’t have to go through this alone. Leaning on your support system of friends, family, and healthcare professionals can help you feel more grounded as you take your next steps.
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View your personalized treatment plan in the Outcomes4Me app
Use your diagnosis to unlock personalized NCCN Guidelines®-aligned recommendations.
Frequently Asked Questions
What’s the main difference between having a family history of breast cancer and having a positive genetic test result? Think of your family history as an important clue that suggests there might be a pattern of cancer in your family. A positive genetic test result is like finding the specific reason for that pattern. It confirms an inherited gene mutation that increases your risk. This confirmation allows you and your doctor to move from general recommendations based on family history to a highly personalized health plan based on your specific genetic makeup.
My result was a ‘variant of uncertain significance’ (VUS). What does this actually mean for me? A VUS result can feel confusing, but it simply means the test found a genetic change that researchers don’t have enough information about yet. It is not a positive result. For now, this finding won’t change your medical care; your doctor will continue to make screening recommendations based on your personal and family health history. Many VUS results are eventually reclassified as harmless as more research becomes available, so it’s a good idea to check in with your provider every few years for any updates.
If my genetic test is negative, does that mean I won’t get breast cancer? A negative result is definitely reassuring news, but it doesn’t mean you have a zero percent chance of developing breast cancer. It means the test did not find any of the known, high-risk mutations it was looking for. Most breast cancers happen by chance and are not linked to an inherited gene mutation, so it’s still essential to continue with regular screenings and follow the health plan you and your doctor have established.
If I test positive for a gene mutation, does that mean I have to have preventive surgery? Not at all. A positive result opens up a conversation about all of your options for managing your risk, and surgery is just one of them. Other strategies include starting screenings at an earlier age, having more frequent check-ups, adding different imaging tests like an MRI, or taking risk-reducing medications. The decision is deeply personal, and your healthcare team is there to help you understand every option so you can choose the path that feels right for you.
How can I talk to my family about my results without scaring them? Starting this conversation can be tough, but framing it as empowering information can help. You can explain that you’re sharing what you’ve learned so they can also be proactive about their health. It can be helpful to be direct and calm, encouraging them to speak with their own doctor or a genetic counselor. Providing them with a clear next step gives them a sense of control and a professional resource to turn to, which can make the news feel much more manageable.