BC Testing Archives

Testing is an ever-present part of the journey for breast cancer, helping identify stage, treatment options, progress, and potential recurrence. Breast Cancer Testing can also introduce a whole new vocabulary into your life. Don’t let jargon overwhelm you or undermine your grasp test options and results.

More resources for Breast Cancer Testing from Patient Empowerment Network.

Demystifying Breast Cancer:

Separating Fact from Fiction During Breast Cancer Awareness Month

Breast Cancer Awareness Month, which takes place each October, is a global campaign that aims to raise awareness about breast cancer, encourage early detection through regular screenings, and provide support to those affected by the disease. During this month, various organizations, foundations, and individuals come together to educate and inform the public about breast cancer prevention, treatment, and survivorship.

One of the significant challenges in combating breast cancer is the prevalence of myths and misconceptions surrounding the disease. These myths can contribute to fear, anxiety, and even misinformation, leading to delays in seeking medical help or pursuing necessary preventive measures.

In this article, we will focus on debunking some of the most common breast cancer myths.

Myth 1: Only Older Women Get Breast Cancer

Fact: While breast cancer is more prevalent among older women, it is a disease that knows no age limits. Breast cancer can strike at any stage of a woman’s life, including young adulthood. The diagnosis of breast cancer in young women can be particularly devastating, as they are often at the peak of their careers, building families, or pursuing their dreams.

Myth 2: You Can’t Get Breast Cancer if It Doesn’t Run in Your Family

Fact: Breast cancer is usually not directly inherited through genes. Having a family history of breast cancer can increase the risk, but most cases occur in women without any family history. Many factors, both genetic and environmental, can influence the development of breast cancer. Some genetic mutations like BRCA1 and BRCA2 are associated with higher risk, but these mutations are relatively rare and account for only a small percentage of all breast cancer cases. Therefore, even if breast cancer does not run in your family, it doesn’t mean you are immune to the disease.

Myth 3: Breast Cancer is Always Painful

Fact: Many women mistakenly believe that if they are not experiencing pain or discomfort in their breasts, they are free from the risk of breast cancer. However, this is far from the truth. One of the most deceptive traits of breast cancer is its ability to develop silently, often without causing pain or discomfort. By the time it becomes painful or symptomatic, it may have reached an advanced stage, making it more challenging to treat.

The presence of the following signs should raise concern:

  • Lumps or Masses: One of the most recognizable signs of breast cancer is the discovery of a lump or mass in the breast or underarm area.
  • Skin Changes: Changes in the skin over the breast, such as redness, dimpling, puckering, or an orange-peel-like texture, can be indicative of breast cancer. These changes may not be painful but should prompt immediate medical evaluation.
  • Nipple Changes: Unexplained changes in the nipples, such as inversion, scaling, crusting, or discharge (other than breast milk in nursing mothers), should be examined by a healthcare professional.
  • Breast Pain: While breast pain is not a reliable indicator of breast cancer, persistent, unexplained breast pain or discomfort should not be ignored. It is essential to seek medical advice to rule out any underlying issues.

Myth 4: If You Have a Lump in Your Breast, It’s Always Cancer

Fact: It’s important to understand that not all breast lumps indicate cancer. In fact, the majority of breast lumps are benign, meaning they are non-cancerous. While it’s always prudent to take any changes in your breasts seriously and consult a healthcare professional, it’s helpful to know that there are many other potential causes of breast lumps.

One common cause of benign breast lumps is cysts. Cysts are fluid-filled sacs that can develop in the breast tissue. They are typically round or oval in shape and can feel smooth or rubbery to the touch. Cysts may appear and disappear on their own or fluctuate in size with hormonal changes throughout the menstrual cycle. While cysts are usually harmless, they can sometimes be painful or uncomfortable.

Another benign condition that can cause breast lumps is a fibroadenoma. Fibroadenomas are solid, non-cancerous tumors that often occur in younger women. They are typically smooth, firm, and movable. Fibroadenomas are influenced by hormonal changes and can grow in size or become more tender during pregnancy or certain hormonal therapies. Although fibroadenomas are not cancerous, it is essential to have any new or changing breast lumps evaluated by a healthcare professional to confirm the diagnosis.

Other potential causes of benign breast lumps include breast infections (mastitis), lipomas (soft fatty tumors), and traumatic injuries to the breast tissue. In some cases, hormonal imbalances, such as those associated with certain medications or conditions like polycystic ovary syndrome (PCOS), can also contribute to the development of breast lumps.

Myth 5: Only Women Get Breast Cancer

Fact: Although rare, men can develop breast cancer. Men have breast tissue too, although it is typically less developed than women’s breast tissue. Any changes in the breast area should be monitored. These changes may include a lump or thickening in the breast or under the nipple, changes in the size or shape of the breast, nipple discharge (often bloody), or changes in the skin over the breast area.

When it comes to breast cancer in men, many of the risk factors are similar to those for women. Age is a significant factor, with the risk increasing as men get older. Family history of breast cancer, genetic mutations such as BRCA2, exposure to estrogen, and certain medical conditions such as Klinefelter syndrome or liver disease are also known to increase the risk for male breast cancer.

Although breast cancer in men is relatively uncommon, it is still important to raise awareness and provide education about this topic. Men should be encouraged to understand their breast health, know the potential risk factors, and be proactive in seeking medical attention if any concerns arise. Early detection and intervention can greatly improve the prognosis and outcome for men diagnosed with breast cancer.

Myth 6: Bras with Underwire Cause Breast Cancer

Fact: Numerous scientific studies have been conducted to investigate the potential link between underwire bras and breast cancer. The results consistently show that there is no credible evidence supporting the notion that wearing underwire bras increases the risk of developing breast cancer.

Myth 7: Deodorants Can Cause Breast Cancer

Fact: Similarly there is no scientific evidence to support the claims that deodorants and antiperspirants cause breast cancer. These products are used by millions of people worldwide, and rigorous scientific research has not established any direct link between their use and the development of breast cancer. Rather than worrying about everyday products, we should focus on known breast cancer risk factors, such as genetics, family history, lifestyle choices, and regular breast health checks. These factors have a more significant impact on breast cancer risk, and understanding and addressing them can contribute to overall breast health and well-being.

Myth 8: Breast Cancer Is A Single Disease

Fact: Breast cancer is not a singular disease but rather a diverse and complex group of different types of tumors. These tumors can vary in their biological characteristics, behaviors, and responses to treatment.

The classification of breast cancer takes into account various factors, including:

  • Receptor Status: Breast cancer tumors can be classified based on the presence or absence of hormone receptors, such as estrogen receptors (ER) and progesterone receptors (PR), as well as human epidermal growth factor receptor 2 (HER2). These classifications guide treatment decisions and are crucial in determining the most effective therapies.
  • Histology: Breast cancer tumors can have different histological characteristics, which means they can look different under a microscope. For example, some breast cancers are invasive ductal carcinomas, while others are invasive lobular carcinomas, each with its distinct features.
  • Genetic Subtypes: Advances in genetic research have led to the identification of specific genetic subtypes of breast cancer, such as triple-negative breast cancer (negative for ER, PR, and HER2) and HER2-positive breast cancer. These subtypes may respond differently to targeted treatments.
  • Stage and Grade: Breast cancer is staged based on the size of the tumor, lymph node involvement, and whether it has spread to other parts of the body. The grade of the tumor also reflects its aggressiveness.

Recognizing the diversity within breast cancer is important because different types of breast cancer may require different treatment approaches. Treatment plans are tailored to the specific characteristics of the tumor and the individual patient, taking into account factors like age, overall health, and personal preferences.

Additionally, ongoing research into the molecular and genetic aspects of breast cancer continues to reveal more about the complexity of the disease, leading to more precise treatments and improved outcomes. By dispelling the myth that breast cancer is a single disease, we highlight the importance of accurate diagnosis and individualized treatment plans, ultimately contributing to better care and outcomes for those affected by breast cancer.

Myth 9: Mammograms Cause Breast Cancer

Fact:  Mammograms, a type of X-ray imaging, are a tool in the early detection of breast cancer, identifying abnormalities that may not be noticeable during a physical examination. However, concerns about the potential risks associated with radiation exposure have been raised.

Radiation can be harmful, particularly at high doses, but the dose used in mammography is extremely low. The level of radiation involved in a mammogram is carefully regulated and tailored to minimize any potential risks. Modern mammography machines are designed to deliver the lowest radiation dose possible while producing clear and detailed images.

It is understandable to have concerns about radiation exposure, but it’s essential to consider the bigger picture. The benefits of regular mammograms far outweigh the minimal radiation exposure involved. Early detection of breast cancer through mammography can significantly increase the chances of successful treatment and improve long-term outcomes.

Myth 10: Stress Causes Cancer

Fact: While it is well-established that chronic stress can have a negative impact on overall health and well-being, including weakening the immune system, there is no conclusive scientific evidence to support the claim that stress directly causes cancer.

While stress may contribute to an individual’s overall health, it is only one piece of the puzzle when it comes to cancer development. That being said, managing stress and adopting healthy coping mechanisms are still important for overall well-being. Engaging in activities such as exercise, meditation, or pursuing hobbies can help reduce stress levels and improve mental health.

Rather than living our lives in fear that stress alone will lead to cancer, it is more helpful to prioritize overall health through a balanced diet, regular physical activity, and appropriate cancer screenings. These proactive measures have been shown to have a more direct impact on reducing cancer risk.

Breast Cancer Awareness Month serves as a reminder that knowledge is power. By dispelling these myths and promoting accurate information, we can empower women to make informed decisions about their breast health. Breast cancer is a complex and multifaceted disease, and understanding the facts is essential in the journey toward prevention, early detection, and improved outcomes.

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What Is a Breast Cancer Genetic Mutation?

What Is a Breast Cancer Genetic Mutation? from Patient Empowerment Network on Vimeo.

Breast cancer patients may learn that they have a “genetic mutation”—so what does that mean exactly? Dr. Jame Abraham defines the term and explains what mutation status could reveal about a patient’s individual disease.

Dr. Jame Abraham is the chairman of the Department of Hematology & Medical Oncology at Cleveland Clinic and professor of medicine at Cleveland Clinic Lerner College of Medicine. Learn more about Dr. Abraham.

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What’s the Difference Between Germline and Somatic Breast Cancer Mutations? 

What Is Breast Cancer Genomic Testing

What Is Breast Cancer Genomic Testing? 


Transcript:

Dr. Abraham:

So, genetic mutation is, the change is happening within the tumor, which is making it more aggressive, or less aggressive. So, what’s driving this tumor? Let us think, it’s like a machine, and the machine has, probably, different parts, and we know, every part plays a role in driving that engine, but some part may be playing a major role in driving that engine, and the question is, can we knock that off with certain medicine? 

So, select genetic testing. If the tumor has, what we call, it’s an ESR1 mutation, then we can use some medicine, which can block that ESR1. That’s a new drug, which just got approved recently, to see if they have some kind of an immune marker, what we call as, a PD-L1 marker. Then, it can be used like an immunotherapy, to stop that cell growth. So, let’s just say, if I have somebody with BRCA1 somatic mutation, in some patients, even certain medicines, like PARP inhibitors, may be helpful. So, identifying that, what’s turning them on, and trying to identify a medicine which can turn that off. 

What’s the Difference Between Germline and Somatic Breast Cancer Mutations?

What’s the Difference Between Germline and Somatic Breast Cancer Mutations? from Patient Empowerment Network on Vimeo.

Breast cancer expert Dr. Jame Abraham reviews the key differences between germline and somatic genomic testing and explains the role they play in treatment, care, and predicting a recurrence.

Dr. Jame Abraham is the chairman of the Department of Hematology & Medical Oncology at Cleveland Clinic and professor of medicine at Cleveland Clinic Lerner College of Medicine. Learn more about Dr. Abraham.

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What Is Breast Cancer Genomic Testing? 


Transcript:

Katherine:

Dr. Abraham, what’s the difference between germline and somatic genetic mutations?   

Dr. Abraham:

Sure. So, germline, as I said, to see if we carry that gene, and it means, I’m born with that. I’m inherited. I carry that gene. That’s in my DNA. Somatic is, the change is happening within the tumor, within the tumor. 

So, it’s kind of – sometimes, it can be acquired. So, let’s just say, if I’m seeing a patient with breast cancer, and then, it can be early stage. So, I’ll kind of say that – let’s just say, if I’m seeing somebody with a stage II breast cancer, we can do a genomic testing of the tumor to identify the risk of recurrence for the next nine years or so. We do that, mainly in what we call as ER-positive, HER2-negative tumors. So, hormone-positive, HER2-negative tumors. 

In early-stage setting, we do genomic testing to classify the risk of recurrence. And I found the high risk, or low risk, that’s one. And second, this genomic testing will tell us the benefit from chemotherapy. 

So, share prognosis, and treatment decision.  

So, the other genomic testing we commonly do is, let’s just say, she has seen somebody who is metastatic, means the cancer already spread to other part of the body. Again, we can do the genomic testing from the tumor, and then, that’ll kind of give us what, the changes happening within the tumor. That’ll help us to identify potential, and what particular targets within the tumor, so that we can treat them with new treatments, or screen them for clinical trials. 

And then, some of the new treatments have specific mutations that’ll identify if patients benefit from certain medications. So, the genomic testing will help us to select patients for these new treatments, or even clinical trials. 

What Is Breast Cancer Genomic Testing?

What Is Breast Cancer Genomic Testing? from Patient Empowerment Network on Vimeo.

What do results of breast cancer genomic testing reveal? Expert Dr. Jame Abraham explains this type of testing and common breast cancer genetic mutations and discusses how tests are typically administered.

Dr. Jame Abraham is the chairman of the Department of Hematology & Medical Oncology at Cleveland Clinic and professor of medicine at Cleveland Clinic Lerner College of Medicine. Learn more about Dr. Abraham.

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What is the Role of Genetic Testing in Breast Cancer


Transcript:

Katherine:

Dr. Abraham, for breast cancer patients who don’t understand the term, what is genomic testing?   

Dr. Abraham:

So, genomic testing, there are two types of genomic testing, what we call as, germline testing. And then, there’s another one, what we call as, somatic testing. So, germline testing means, the question is, if I carry a gene which can make me high risk for breast cancer. So, one of the most common questions I get from our patients when I see them is, “Oh, do I carry a gene? Why did I get this breast cancer?” And then, the other question is, “What’s the risk for my kids, my daughter?” 

So, I’ve seen, about 5 to 10 percent of breast cancers are due to an abnormal gene. To find that, we do, what we call as, the germline testing. That’s the first – when we say genomic testing, that’s the most commonly understood nomenclature. 

So, do I carry this gene? It’s a blood test, or we can take a mouth swab. That will give us an answer, if that person carries a gene. 

Usually, we test several genes, and I’m sure, most of the people have BRCA1, BRCA2, PALB2, CDH1. Those are some of the genes we test, and BRCA1 and BRCA2 are the most common, and 80 percent of heredity, or those who are transmitted to the next generation, is attributed to BRCA1 and BRCA2.  

Katherine:

How is this testing administered?  

Dr. Abraham:

So, it’s a blood test. 

Most of the time, we can draw – usually, the way we do is, I like to say, if I’m seeing a patient who has – and this is a patient who’s 45 years old and has a strong family history, or in patients under the age of 50, with a triple-negative breast cancer, or any person under the age of 50, can be considered for genetic counseling. And then, based upon the conversation with a genetic counselor, we will recommend the genetic testing. Usually, it’s a blood draw. 

How Do Biomarker Test Results Impact a Breast Cancer Patient’s Prognosis?

How Do Biomarker Test Results Impact a Breast Cancer Patient’s Prognosis? from Patient Empowerment Network on Vimeo.

What role do biomarker test results play in a breast cancer patient’s prognosis? Dr. Bhuvaneswari Ramaswamy reviews important biomarkers, such as hormone receptor status, and how they affect care.

Dr. Bhuvaneswari Ramaswamy is the Section Chief of Breast Medical Oncology and the Director of the Medical Oncology Fellowship Program in Breast Cancer at The Ohio State College of Medicine. Learn more about Dr. Ramaswamy.

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How Do Genetic Mutations Impact Breast Cancer Risk, Prognosis, and Treatment?


Transcript:

Katherine: 

How do biomarker test results impact prognosis? 

Dr. Ramaswamy:

All of them do because it’s important to understand that that’s why this – these biomarkers carry a lot of weight. Biomarkers are good, are important, but when the most important biomarkers are that are going to impact outcomes. And then even more important is whether they’re going to predict the efficacy of a treatment, the outcomes used by the success of a treatment, right?  

So, in that way, if your tumor is estrogen and progesterone receptor- positive, then you generally tend to do a little bit better. And they are slightly better tumors for sure, and you know that the anti-estrogens would work. So, these – there’s two ways. They are prognostic and predictive. Now, the whole two positive tumors previously used to have a worse prognosis, but we have such wonderful anti HER2 therapies now that we can use. Now we know that if you use those therapies, the outcomes are better.   

So, it’s predictive again, that predictive of the treatment and prognostic. Now the triple negatives are usually a little bit more difficult to treat because as you can understand, they don’t have any of these targets for us to use targeted therapy at this point. There is definitely some improved outcomes using immunotherapy, but you know that we don’t have those proteins. So, slightly worse outcomes for sure, triple negative among all of these subtypes. And also there is no biomarkers.  

We do use immunotherapy, which is helping certain percentage of those patients, but we still need to understand why it’s not helping other people. So, yeah. 

Genetic Testing VS Biomarker Testing: What’s the Difference?

Genetic Testing VS Biomarker Testing: What’s the Difference? from Patient Empowerment Network on Vimeo.

What do breast cancer patients need to know about the differences between genetic testing and biomarker testing? Dr. Bhuvaneswari Ramaswamy explains how the test types differ and discusses how the results may impact care.
 
Dr. Bhuvaneswari Ramaswamy is the Section Chief of Breast Medical Oncology and the Director of the Medical Oncology Fellowship Program in Breast Cancer at The Ohio State College of Medicine. Learn more about Dr. Ramaswamy.

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What Is the Role of Genetic Testing In Breast Cancer?


Transcript:

Katherine: 

Patients are often confused about the difference between hereditary genetic testing and biomarker testing. Would you explain the difference? 

Dr. Ramaswamy:

Absolutely. So, the hereditary genetic testing is what are the genes that you got from your parents? It could be mother or father. And we all think that because it’s breast cancer should be just from mother. It doesn’t matter. It can be from mom or dad. And that influences your breast cancer risk. So, if you have some mutations or some changes in certain genes that can increase your risk of breast cancer. And the well-known ones are the BRCA1, BRCA2, but we also now know a few more like the PALB, ATM and CHEK2 and other things.  

So, now when you do have a family history, or sometimes even based on your age and your oral history, we do test for this hereditary risk factors that you might have and that may influence your surgery and some type of treatments that we give as well.  

Now as far as biomarkers, biomarkers are more proteins that we check in your tumors. The breast cancer that you already have, and that we may do the biopsies. We look for these tumor proteins that influences the growth of your cancer cells. So, we can target these biomarkers and decrease the growth of your cancer cells. 

What Do You Need to Know About Metastatic Breast Cancer Genetic Testing?

What Do You Need to Know About Metastatic Breast Cancer Genetic Testing? from Patient Empowerment Network on Vimeo.

Why is it important to ask about metastatic breast cancer genetic testing? Find out how test results could reveal more about YOUR breast cancer and could help determine the most effective treatment approach.

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Transcript:

Why should you ask your doctor about metastatic breast cancer genetic testing?

The National Comprehensive Cancer Network – also known as the NCCN – recommends that every metastatic breast cancer patient undergo genetic testing. The test results can help predict how your cancer may behave and could indicate that one type of treatment is more effective than another.

This testing identifies specific gene mutations, proteins, chromosomal abnormalities, and/or other molecular changes that are unique to YOU and YOUR breast cancer.

There are two main types of genetic tests used in breast cancer:

  • Germline or hereditary genetic testing, which identifies inherited gene mutations in the body. These mutations are present from birth, can be shared among family members and be passed on to subsequent generations.
  • The second is somatic or tumor genetic testing, which identifies markers that are unique to the cancer itself. It is also commonly referred to as genomic testing, biomarker testing, or molecular profiling. Somatic mutations are NOT inherited or passed down from family member to family member.
  • Depending on your history, your doctor may order one–or both–of these types of tests.

So why do the test results matter?

  • If you have specific gene mutations – such as the BRCA1 or BRCA2 inherited gene mutations – it could indicate that a targeted treatment approach may be the most effective option. For example, there are two oral targeted therapies that are approved specifically for use in metastatic patients with BRCA1-positive or BRCA2-positive breast cancer.
  • Results of these tests may also help you to find a clinical trial that may be appropriate for your particular cancer.
  • Additionally, results from germline genetic testing may suggest that close family members should also be tested to determine their risk.

How can you insist on the best breast cancer care?

  • First, always speak up and ask questions. Remember, you have a voice in YOUR breast cancer care.
  • Ask your doctor if you have had–or will receive–genetic testing, including germline and somatic testing.
  • If you have already undergone genetic testing, bring a copy of your results to your current doctor, so they can understand your results and determine whether additional testing is needed.
  • Have a discussion with your healthcare team about the test results – including which markers were detected and how results may impact your care and treatment plan.
  • Ask whether your family members should meet with a genetic counselor or undergo testing to help gauge their risk of developing breast cancer.
  • And, finally, bring a friend or a loved one to your appointments to help you process and recall information.

To learn more about breast cancer and to access tools for self-advocacy, visit powerfulpatients.org/breastcancer

What Do Metastatic Breast Cancer Patients Need to Know About Genetic Testing?

What Do Metastatic Breast Cancer Patients Need to Know About Genetic Testing? from Patient Empowerment Network on Vimeo.

What do metastatic breast cancer patients need to learn about genetic testing? Expert Dr. Sarah Sammons explains the difference between germline testing versus somatic testing and defines key terms, including biomarker testing and genetic mutations.

Dr. Sarah Sammons is an oncologist at Duke Cancer Institute and Assistant Professor of Medicine at Duke University School of Medicine. Learn more about Dr. Sammons here.

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Transcript:

Katherine:

Many patients are confused by genetic testing. Let’s look at the difference between germline and somatic testing.

Dr. Sammons:

Yes, that’s a really good question and one that comes up in the clinic quite frequently. When I tell a patient that I want to get some sort of genetic testing, they often are confused, and say, “Well, I’ve already had genetic testing, maybe when I was first diagnosed with early-stage breast cancer.” And so then, I do often times need to explain what the difference between germline and somatic genetic testing is.

So, germline testing is testing that’s done on cells in your body that actually don’t have cancer. And the purpose of germline testing, which we often do in early-state breast cancer or in metastatic breast cancer, is to understand if you have inherited genes that could pre-dispose you to developing breast cancer. But also, in the metastatic setting, it’s important to do germline testing because we do have drugs that are approved for patients that have germline mutations in the BRCA genes. And research is evolving, but there are other germline genes of interest that could be biomarkers for other therapies.

Somatic testing is basically genetic testing on the breast cancer cells themselves. So, most often we will get a biopsy, usually of a metastatic area, like the liver, or bone, or lung. Really the safest, most accessible place. If we’re able to safely get a biopsy, oftentimes we’ll send somatic testing – that’s also referred to as usually next generation sequencing – is all somatic testing. And that tests mutations that have developed in the breast cancer itself. It could potentially be biomarkers for optimizing and tailoring personalized treatment approaches to the patient’s cancer.

Katherine:

I’d like to define a few terms. First of all, what is biomarker testing?

Dr. Sammons:

That’s a really good question. So, a biomarker is really anything – it could be a gene; it could be a protein – that is expressed on a patient’s cancer, that makes them a good candidate for a certain drug, essentially.

So, one of the earliest biomarkers that we’ve had in breast cancer – and still, I would argue, the most important biomarkers – are estrogen receptor and HER2.

Now, we test all breast cancers for estrogen receptor and HER2 because we know for estrogen receptor – if a patient has estrogen receptor high positivity at their initial diagnosis, that is the best biomarker for endocrine therapies, whereas HER2 present on a breast cancer cell – patients that overexpress HER2, they are great candidates for drugs that specifically target HER2.

So, it simply means that we found something on their breast cancer cell that makes them a good candidate for a treatment.

Katherine:

What is a genetic mutation?

Dr. Sammons:

So, genetic mutations are a permanent change in the DNA of a gene, in either a cancer cell or a cell that somebody was born with. So, it’s a change in the DNA sequence. And some gene mutations drive cancers to grow. Some mutations do not drive cancers to grow. Generally, in the treatment of all advanced cancers, we only target with drugs those gene mutations that we know are what we call “driver mutations.” So, mutations that actually cause the cancer to grow.

How Can You Ensure You’ve Had Essential Metastatic Breast Cancer Testing?

How Can You Ensure You’ve Had Essential Metastatic Breast Cancer Testing? from Patient Empowerment Network on Vimeo.

How can metastatic breast cancer patient ensure they receive essential testing? Dr. Jane Lowe Meisel explains how tests can vary by patient and shares advice for key questions to ask to help ensure optimal care.

Jane Lowe Meisel, MD is an Associate Professor of Hematology and Medical Oncology at Winship Cancer Institute at Emory University. Learn more about Dr. Meisel here.

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Transcript:

Katherine:

We’ve talked about several key tests. Some patients may be confused about whether they’ve received these tests. So, what questions should they ask their physician to make sure they’re getting appropriate testing?

Dr. Meisel:

I think it’s probably useful because not everybody needs every test, and I think there are often things you hear about online or from friends or even in a webinar like this and there may be a good reason why you haven’t had that particular test. So, I wouldn’t assume that if you haven’t had everything that we’ve talked about today even, that someone’s made a mistake or that you need that and aren’t getting it. But I would ask. I think it’s always helpful to know more, knowledge is power. And so, if you have never had a CT scan or a CA27-29 level or a genomic testing.

I think it’s not a bad thing if you’re curious about it, to just ask your treating team, “Hey, I heard about genomic testing, is there a reason I haven’t had that? Or have I had that?” Maybe you have, and they called it something else. I think it is complicated, but I think it helps to understand what you’ve had done and what you haven’t had done. And sometimes, asking about something like that may prompt the team to do things that my benefit you. 

How Does Biomarker Testing Impact Metastatic Breast Cancer Treatment Options?

How Does Biomarker Testing Impact Metastatic Breast Cancer Treatment Options? from Patient Empowerment Network on Vimeo.

How are metastatic breast cancer treatment options impacted by biomarker testing results? Dr. Jane Lowe Meisel explains germline testing versus somatic testing – and how results may be used to help determine optimal treatment.

Jane Lowe Meisel, MD is an Associate Professor of Hematology and Medical Oncology at Winship Cancer Institute at Emory University. Learn more about Dr. Meisel here.

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Transcript:

Katherine:

What is biomarker testing, and how do results impact treatment options?

Dr. Meisel:

Great question. So, I think people often confuse germline mutations and somatic mutations. So, I’ll talk about that a little bit as we talk ab out biomarkers. So, I think biomarkers in general are factors within the tumor that allow us to make treatment decisions. So, if a biomarker in the tumor can predict response to a certain type off treatment, we want to know what that biomarker is so we can better treat the patient and more elegantly design a regimen. So, for example, having an estrogen-positive tumor, estrogen positivity is a biomarker suggestive of response to anti-estrogen treatments, which is why we give anti-estrogen therapy to ER-positive breast cancers.

But more recently, we’ve been able to move a little bit beyond estrogen, HER2 and triple-negative as our subtypes and think a little bit more in some patients about more sophisticated biomarkers. And that’s where somatic mutation testing comes in. So, there are germline mutations, which are inherited mutations that’re present in every cell in your body. So, for example, if your mother was a BRCA mutation carrier and based that BRCA mutation down to you, you would have a germline BRCA mutation. So, your cancer would carry a BRCA mutation, but so would every other cell you have.

And that’s a biomarker. That would make you a candidate for something like a PARP inhibitor. But in cancers, which the genes in the cancer have gone awry by definition, there are often other biomarkers within that tumor that may make you a candidate for certain treatments. And so, those mutations that arise in the cancer itself are called, somatic mutations. Those are mutations in the tumor, can’t be passed down to your offspring or anything like that and were not inherited by your parents. But mutations that’ve accumulated over time as these cancer cells have gone awry.

And so, genomic testing, or biomarker testing can be done often on a metastatic specimen. So, to be specific about it, say you had a metastatic breast cancer to the liver. You could have a liver biopsy done and that tissue from the liver biopsy could be sent for genomic testing. There are a lot of companies that do this and there are also some larger cancer centers that actually do in house testing for genomics. So, this testing can be done and what it does then is, it helps you determine, do you have a biomarker that predisposes you to a certain treatment.

So, if that metastatic liver tissues, for example contained high levels of PBL1 expression for example and you were triple-negative, that would say to your doctor ooh, this is a great candidate for immunotherapy along with chemotherapy. Or if you’re estrogen-positive for example and your tumor contains a mutation in the gene called PIK3CA and that might make you a candidate for a drug called, Alpelisib. So, these mutations could often be paired to a drug or treatment options, or sometimes to a clinical trial to allow patients to come take advantage of more targeted therapies. That sometimes, because they’re targeted, have fewer side effects than drugs that are a little more discriminate.

Katherine:

Marie sent in this question prior to the program, “Are there some genetic tests that’re more accurate than others?”

Dr. Meisel:

That’s a good question. I would say most genetic testing platforms have been heavily vetted and approved by national organizations and laboratories that’ve been tested multiple times before they’re allowed to be marketed. So, I wouldn’t say that one genetic testing program is necessarily better than another. I think that any of the commercially available platforms that’re used are probably pretty accurate.

I was just going to add one thing to that, if that’s okay. I was going to say that I think it’s important when you’re using genetic testing platforms though to know what you’re testing for. So, there are some platforms that will just test for say, the three most common mutations in BRCA1 and BRCA2 that Ashkenazi Jews have.

And so, if you get that testing back and you’re negative, you might think, “Oh, I don’t have a mutation in those genes.” Well, we know from that testing, just as an example, is that you don’t have a mutation in those three alleles of that gene. But if you haven’t had full gene sequencing, you could have a mutation somewhere else in that gene. So, I would say all genetic testing that’s commercially available is probably pretty accurate. But it is important when you get testing done to know what you’re testing for and what you’re not testing for so you can interpret your results accurately. And genetic counselors, as well as your doctors can help you do that. 

What is Metastatic Breast Cancer and How Is It Diagnosed?

What is Metastatic Breast Cancer and How Is It Diagnosed? from Patient Empowerment Network on Vimeo.

Metastatic breast cancer (MBC) may progress differently than the earlier stages of breast cancer. Dr. Jane Lowe Meisel defines metastatic breast cancer and discusses key tests involved in an MBC diagnosis.

Jane Lowe Meisel, MD is an Associate Professor of Hematology and Medical Oncology at Winship Cancer Institute at Emory University. Learn more about Dr. Meisel here.

See More From INSIST! Metastatic Breast Cancer

Related Resources:

Metastatic Breast Cancer: Debunking Common Misconceptions

Metastatic Breast Cancer Staging: What Patients Should Know

How Can You Advocate for the Best Breast Cancer Care?


Transcript:

Katherine:

This webinar is focused on metastatic disease, would you define metastatic breast cancer for us?

Dr. Meisel:

Absolutely. And I think metastatic breast cancer is one of those terms that as doctors, we throw around a lot and often times don’t stop to check understanding as to what that means.

And what metastatic breast cancer is and means, is breast cancer that is spread outside of the breast and surrounding lymph nodes to another organ system. So, metastatic breast cancer, some of the most common places where it spreads are to the bone, to the skin, to the lungs, to the liver, to the brain. There are other places it can spread to. I’ve seen it on the ovaries, in the GI tract. But basically, when breast cancer spreads outside of the breast and surrounding lymph nodes to another organ system, that’s when we consider it metastatic.

Katherine:

How can a patient ensure they are getting an accurate diagnosis?

Dr. Meisel:

Another good question. And I think the most important thing when you’re considering whether or not you have a diagnosis of metastatic breast cancer is to get a biopsy of that metastatic site. So, you wouldn’t want to assume, just based on a CT scan that shows something in the bone that you have metastatic disease. Ideally, we would biopsy that spot or some spot that was indicative of metastatic disease to actually prove that there is metastatic cancer in that distant site.

Because sometimes it’s nothing. Sometimes you get scans and a little bone abnormality, maybe a scar from a prior fall. And then also, sometimes if it is metastatic, sometimes the breast cancer, the hormone receptor status for example can change from the primary site to the metastatic site. And that might impact treatment. So, it’s important to both get a metastatic biopsy to confirm diagnosis. And also, to understand what the treatment plan might be. And I think also for patients, just to make sure that you understand what your stage is, ask your doctor.

Say, what is my stage? Because sometimes doctors think people understand and they don’t actually, so checking that understanding is important. But if your doctor or provider is not actively checking your understanding, you can check it with them to make sure that if you are metastatic or have Stage IV disease, which is another way we define metastatic or talk about metastatic cancer, that you make sure you have the definition right.

Katherine:

Right, right. So, once someone has been diagnosed with metastatic disease, are there key tests that’re used to help understand how their disease may behave and progress?

Dr. Meisel:

Absolutely. So, I think the first thing as I said is that metastatic biopsy. Another thing that’s very important is understanding the hormone receptor status and the HER2 status of the breast cancer. And probably for a lot of you listening, if you have listened to metastatic breast cancer webinars before or maybe know someone or have had a diagnosis yourself, you’re well versed in this. But for some who may not be, I think a quick overview is maybe helpful. Breast cancer can be divided into three different subtypes. So, triple-negative, estrogen-positive or HER2-positive. And estrogen-positive breast cancer is the most common kind.

That tends to be driven by hormones and often treated with what we call, endocrine therapy. So, anti-estrogen pills, things like Tamoxifen or aromatase inhibitors are examples of that. And that’s one kind. And then there’s HER2-positive breast cancer, which is a type of breast cancer that over expresses a marker called HER2. And we now, since we know about that marker, have been able to develop a lot of different treatments that target HER2 selectively.

And can be used to treat that subtype. And then triple-negative is basically estrogen-negative, progesterone-negative and HER2-negative. And that type of breast cancer traditionally was treated essentially only with chemotherapy. But now we’ve had some breakthroughs, which we’ll talk about I think later in this program talking about immunotherapy and more targeted therapy for that. But those subtypes help determine how we treat patients. And it also can sometimes predict behavior.

I would say one of the other things that helps us predict behavior of metastatic disease is, if a patient had early-stage disease before, how quickly they developed metastatic disease. So, for example, someone who develops estrogen-positive metastatic breast cancer 12 years out from their original diagnosis is statistically more likely to have a slower progressing course of disease than someone who develops triple-negative metastatic disease very soon after their initial treatment. So, I would say that’s the primary thing we look at in terms of determining treatment plan and then predicting overall course. 

What Are Essential Genetic Tests for Metastatic Breast Cancer Patients?

 

Following a metastatic breast cancer diagnosis, what tests are essential? In this podcast, Dr. Lisa Flaum reviews the role of key tests, and the impact of molecular (genetic) test results on treatment decisions.

About the Guest:

Dr. Lisa Flaum is a Medical Oncologist at the Robert H. Lurie Comprehensive Cancer Center of Northwestern University.

Metastatic Breast Cancer: Accessing the Best Treatment For YOU

How could genetic testing results impact your metastatic breast cancer treatment options? In this podcast, Dr. Julie Gralow will discuss essential testing, the latest targeted therapies and emerging breast cancer research.

About the Guest

Dr. Julie Gralow is the Jill Bennett Endowed Professor of Breast Medical Oncology at the University of Washington, Fred Hutchinson Cancer Research Center, and the Seattle Cancer Care Alliance. More about this expert: https://www.seattlecca.org/providers/julie-r-gralow.

How Can Breast Cancer Genetic Testing Empower Women?

In this podcast, Dr. Stephanie Valente explains how breast cancer genetic testing results can help women learn about their breast cancer risk and guide prognosis and treatment choices. 

About the Guest:

Dr. Stephanie Valente is the Director of the Breast Surgery Fellowship Program at Cleveland Clinic. More about this expert: https://my.clevelandclinic.org/staff/16420-stephanie-valente.

See More from INSIST! Breast Cancer