Tag Archive for: HER2

Breast Cancer Treatment Side Effects | What Are They and How Are They Managed?

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Breast Cancer Treatment Side Effects | What Are They and How Are They
Managed? from Patient Empowerment Network on Vimeo.

What should breast cancer patients know about treatment side effects? Expert Dr. Bhuvaneswari Ramaswamy shares common treatment side effects and explains her perspective on how to manage specific side effects for improved quality of life.

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 this expert here.

See More from Thrive Breast Cancer

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What Are the Treatment Options for Early Stage Breast Cancer?

 How Is Metastatic Breast Cancer Treated?

 Why Should Breast Cancer Patients Engage in Care Decisions?

Transcript:

Katherine:

Dr. Ramaswamy, along with treatment can also come side effects. What are some common side effects of breast cancer treatment?

Dr. Ramaswamy:          

Yeah, great question. Again, an important question for you all to consider. So, let’s divide our treatment  to targeted therapy and chemotherapy. The targeted therapy could be the estrogen receptors and then the  HER2 because the HER2, again, remember that biomarker. And then the chemotherapy that any patient with breast cancer could get, including, of course, the triple-negative. And then we’ll touch base  a little bit later on with the immunotherapy. So, when we look at the targeted therapy with estrogen receptor, anti-estrogen receptors, of course, it’s like putting you into menopause again. It’s like so you could have hot flashes, you could have some emotional liability and you could have vaginal dryness and sexual libido could be lower.

And also you could have joint aches and pains and your bone density could go down and cause osteopenia and osteoporosis and fractures. So, those  are some of the – and we can address all of those that we’ll come to later. With the HER2-targeted therapies, one of the main things will be the heart. These can affect the heart because there are some receptors that are present there that these HER2 therapies can affect the myocardial function. So, they don’t cause increase in heart attacks, but just the pumping action of your heart could go down. We keep checking your heart function to help with that. And then with the chemotherapies, other than your blood counts going down, these are acute events. Those blood counts could go down, which could put you at higher risk for infections. Again, some of the heart chemotherapies can affect the heart. So, we’ll keep an eye on that.

And, of course, fatigue that comes with all of these treatments that can happen. But some of those chronic things that can happen is also neuropathy. So, tingling, numbness in your hands and feet, even sometimes pain in your hands and feet. And then this can stay on for a little bit longer and can cause some trouble buttoning your shirt or playing the piano or putting your earrings. So, it can affect your  daily quality of life and cause pain. The other important thing, which we do have now an option is  also hair loss. I know that is something hard for age.  It’s so hard for women to lose hair and the consequence of being identified differently and not having that – when you look at the mirror, it’s a constant reminder.

So, we do have something called a scalp cooling that you could take an option and discuss with your doctors whether that how helpful that’ll be for your  type of chemotherapy and whether you could use it and you can – but 60 percent of the time not lose all your hair and need a wig. So, that is something that you can address. So, broadly, these are the issues that can happen. Again, this is very broad. Depending on your treatment, you still need to talk to your doctors.

Katherine:

How can some of these side effects be managed?

Dr. Ramaswamy:      

So, the key thing is to be first thing that I want to advise all our patients is that be vocal about your side effects. Okay? Sometimes we all think, okay, they did tell me I’m supposed to have all the side effects. I just need to keep quiet about it. That’s not what is important. And I think I did miss mentioning the GI tract changes like nausea, vomiting, or diarrhea. Again you think, oh, this is our part of all chemotherapy, I just need to keep quiet. No, that’s not the case because we actually give you anti-nausea medications before the   chemotherapy. So, if it’s not effective, you need to have to tell your doctors, “Okay, this time I had a couple of sensations of nausea, but no vomiting.”

Or “No, I was vomiting a lot.” Whatever it is. Even if you had just nausea, it’s important to tell your doctors. If it’s diarrhea, you need to tell them. We do give you some medications, but if it’s not working, you need to tell them. And again, we always underplay the issues with sexual side effects because you don’t want to talk about that. I mean, it’s not important. No, it is important.

It’s important for your intimacy, it’s important for your life, and it’s important for you to speak because there are supportive care therapies that we can provide. Neuropathy, again, I think your doctors will always ask you, but being vocal about it, being honest about it, and talking about it is important. So, again, fatigue.

They are going talk to you about exercise, because exercise does overcome that fatigue. But if you’re not able to do it again, it’s honest to say, “No, but I didn’t do what you said last time.” So don’t feel bad about it. And there could be other ways we can improve your fatigue too. So, again, sharing those side effects is important and we can. We can address all of these side effects. Now, I’m not saying the minute we address these side effects it’s all going to go away completely, but they can get better. And it’s important for you to talk about it and  get those supportive care measures.

What Biomarkers Affect Lung Cancer Care and Treatment?

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What Biomarkers Affect Lung Cancer Care and Treatment? from Patient Empowerment Network on Vimeo.

Lung cancer driver mutations can have an impact on therapy choices for patients. Dr. Grace Dy discusses the various lung cancer driver mutations and how treatment options may target specific markers.

Dr. Grace Dy is Chief of Thoracic Oncology and Professor of Oncology in the Department of Medicine at Roswell Park Comprehensive Cancer Center in Buffalo, New York. Learn more about Dr. Grace Dy.

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Why Do Lung Cancer Patients Need Molecular Testing Before Choosing Treatment?

Transcript:

Katherine Banwell:

How does testing impact treatment and care? 

Dr. Grace Dy:

So, back in like maybe more than two decades ago, I was still in school. The treatment paradigm is sort of like a one size fits all. You come in with a lung cancer diagnosis. Everybody gets treated the same.  

But with advancements in technology and understanding of actually what we call lung cancer is really genetically very different from one patient to another. We are actually not even still able to tease out all the particular details, but there are some improvements that have been made along the way. And so, defining, for example, mutations in cancers, there are what we call driver mutations that have a matched targeted therapy.  

In certain patients, actually the target therapy works so much better than chemotherapy, for example. And that’s why we have it in guidelines based on the results of clinical trials showing that in the appropriate setting, if you have a mutation that we discovered through molecular testing, and then you use the matched target therapy, survival is so much better compared to, for example, chemotherapy.  

Same with immunotherapy. If we use a biomarker to test out which patients may actually respond well to immunotherapy alone – so, that’s a major treatment paradigm change within the less than 10 years wherein we define there’s a group of patients where that’s all they need. Non-chemo, just immunotherapy, and they will do well. 

Katherine Banwell:

What are some of the mutations that are being targeted? 

Dr. Grace Dy:

Right. So, it seems like every year, it’s growing. So, it started off with the poster child in lung cancer story of EGFR. So, we have EGFR mutations. Even EGFR mutations, they’re a subtype of mutations for – there are certain drugs that work better for certain mutations.  

So, we have the classical EGFR mutations, the atypical EGFR mutations. But EGFR mutations as a group are probably the most characterized given the longevity of the research that has been done. But there’s a lot more. 

So, for example, ALK, KRAS, BRAF, HER2, NTFK, NRG, RET, MET. Even those mutations, they’re all these new ones. It’s between the subtype of mutations. For example, we talked about EGFR. Same thing with MET. You have MET exon 14 skip mutations. But in the absence of MET skip mutations, there are also what we call MET gene amplification, MET protein over-expression that have matching therapies that may actually work better. 

But we’re still kind of scratching the surface. There’s a whole lot more being characterized and developed. Case in point, just a little over a year ago, there’s an LTK Fusion that was described. Very rare. But there’s a target therapy for it. So, unless you test it, you won’t find a matching targeted therapy. 

What Guidelines Exist for Lung Cancer Genomic Biomarker Testing?

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What Guidelines Exist for Lung Cancer Genomic Biomarker Testing? from Patient Empowerment Network on Vimeo.

What lung cancer guidelines are there for genomic biomarker testing? Expert Dr. Jessica Bauman from Fox Chase Cancer Center explains developments in genomic biomarker testing and mutations that are checked for in testing.

Download Resource Guide

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Transcript:

Dr. Nicole Rochester: 

So I’m going to start with you, Dr. Bauman. Can you discuss existing guidelines for genomic biomarker testing for lung cancer?

Dr. Jessica Bauman: 

Sure. I’d be happy to. So genomic and biomarker testing in general has really been at the forefront of many conversations about lung cancer over the course of the last decade or longer, 20 years. Because it has really changed our approach to patient care and individualized the way that we treat and make decisions about patients with lung cancer. And so what this means, is for every single person who has a new diagnosis of lung cancer, essentially everybody is now recommended to have molecular testing on their individual tumor samples to help us decide what treatment decisions are the best for them. Now, it used to be that this was really only recommended for patients with a new diagnosis of metastatic lung cancer, but now we’re seeing this really influenced decision-making earlier on than the metastatic setting.

And so we now have treatment approaches that change based on molecular testing for early stage one cancer as well. And so, although it used to be more of a later stage, necessity, now we really…we really now need the information sooner than ever before. And when we say molecular testing, this is really looking at the individual tumor and what is potentially driving the cancer to grow. So to look for oncogenic drivers that change treatment. So I call this with my patients, I call this the alphabet soup. But this includes, EGFR mutations, ALK, ROS1, RET, HER2 as well as many others that influence the potential treatment options that we have for our patients.

Dr. Nicole Rochester: 

Awesome, thank you. That is a great overview. Do you have anything to add to that, Dr. Bazhenova?

Dr. Lyudmila Bazhenova:  

No, I think that was very nicely summarized. I think an important thing is that we have to test, we cannot guess. We have to know what our patients…what mutations our patients have, and then we have to know what to do with that. That’s kind of a second part of the question. 

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Three Promising Areas of Lung Cancer Research

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What are three promising areas of lung cancer research? In the “Emerging Therapies| Hope for the Future of Lung Cancer Care” program, expert Dr. Jyoti Patel from Robert H. Lurie Comprehensive Cancer Center of Northwestern University shares updates about emerging research and insights about the future of lung cancer care. 

1. Identification of Oncogenes

Identification of oncogenes is an active area of lung cancer research efforts. HER2 mutations and EGFR Exon 20 mutations are a couple examples of oncogenes that are targeted in research to develop more effective treatments against them. The epidermal growth factor receptor (EGFR) gene mutation that adds the exon 20 mutation is rare, but when the mutation occurs it’s more likely to occur in those with a non-small cell lung cancer (NSCLC) type of adenocarcinoma, in women, in those of Asian descent, and young adults with NSCLC.

 2. Mitigate Resistance in Targeted Therapies

Drug resistance is also under study to mitigate issues for those who receive targeted therapies. Unfortunately, those who are treated with targeted therapies eventually develop resistance, so this is why this is another focus of current research efforts. There are three generations of EGFR treatments, and now fourth-generation tyrosine kinase inhibitor treatments are being researched to provide an additional line of treatments.

3. Understanding Tumor Microenvironment

The tumor microenvironment is under study to understand more about the different types of responses to immunotherapies. Though some patients have positive and vigorous responses to immunotherapies, other patients exhibit immunity to the impact of immunotherapies. Researchers are looking at the tumor microenvironment for potential ways to co-stimulate vigorous and durable immunotherapy responses for improved lung cancer care.

Lung cancer research is currently investigating many areas of research, and recent lung cancer treatment advances have increased patient survival rates and quality of life. Researchers are also investigating many areas for further screening and treatment advances, including potential blood tests for early detection. If you want to learn more about lung cancer care and treatments, check out our lung cancer information.

Navigating Treatments and Prognosis for Stage 3 Breast Cancer

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Editor’s Note: This resource, Navigating Treatments and Prognosis for Stage 3 Breast Cancer, was originally published by MyHealthTeam.

During a breast cancer diagnosis, your doctor will determine the stage of your cancer. Stages range from 0 to 4, based on the size of the breast tumor and whether the cancer has spread to other organs. If your doctor determines you have stage 3 breast cancer, that indicates you have advanced breast cancer that has begun to impact the tissue surrounding the breast.

Knowing the stage can help your doctor choose the best treatment and predict your prognosis (estimated outlook).

How Is Breast Cancer Stage Determined?

Breast cancer is staged using the TNM staging system, where TNM stands for tumor, node, metastasis. The system looks at the following:

  • Tumor — How large is the primary tumor?
  • Node — Are there cancer cells in nearby or distant lymph nodes?
  • Metastasis — Has the cancer metastasized (spread) to other parts of the body?

A higher degree of cancer spread corresponds to more advanced-stage disease. Understanding the nature of the disease and determining the best treatment options also requires additional information, such as:

  • Hormone receptor status — Does the cancer contain estrogen receptors (ERs) or progesterone receptors (PRs), which are types of proteins?
  • Tumor grade — How do the abnormal cancer cells look compared to the normal cells?
  • Human epidermal growth factor receptor 2 (HER2) status — How high are your levels of the protein HER2?

What Is Stage 3 Breast Cancer?

Also called locally advanced breast cancer, stage 3 breast cancer is a more advanced form of invasive breast cancer. Cancer cells have spread from the milk ducts into the nearby lymph nodes, the skin of the breast, or the chest wall.

Stage 3 breast cancer may further be classified into substages — stage 3A, 3B, or 3C — depending on the size of the breast tumor and the extent of the cancer spread. Notably, breast cancer stages are sometimes referred to using Roman numerals, such as stage III instead of stage 3.

Stage 3A Breast Cancer

Stage 3A breast cancer refers to one of the following situations:

  • The doctor doesn’t find a tumor in the breast, or if there is a tumor, it may be of any size. Additionally, cancer is found in four to nine axillary lymph nodes (those that are in the armpit region) or in the lymph nodes closest to the breastbone
  • The tumor is larger than 5 centimeters, and there are small groups of breast cancer cells between 0.2 millimeters and 2 millimeters in size in the lymph nodes.
  • The tumor is larger than 5 centimeters, and the cancer has spread to one to three axillary lymph nodes or to the lymph nodes near the breastbone.

Stage 3B Breast Cancer

In stage 3B breast cancer, the cancer has spread to the lymph nodes and the chest wall, referring to the protective structures around the lungs. The cancer is also in the skin of the breast, resulting in ulcers or swelling.

Stage 3C Breast Cancer

In stage 3C breast cancer, there may be no sign of cancer in the breast. If there is a tumor, it may be any size and may have spread to the chest wall and/or the skin of the breast. Additionally, the cancer must have spread to one or more of the following places:

  • Ten or more axillary lymph nodes
  • Lymph nodes above or below the collarbone
  • The axillary lymph nodes or lymph nodes near the breastbone

Inflammatory Breast Cancer

Stage 3 breast cancer is classified as inflammatory breast cancer (IBC) when the cancer cells block vessels in the skin of the breast, causing the skin to feel warm and change in appearance.

Treatments for Stage 3 Breast Cancer

Stage 3 breast cancer treatment often starts with chemotherapy, followed by surgery. For cancers with certain genetic mutations, targeted drugs are also used in treatment.

Chemotherapy

Chemotherapy is often the first approach for treating stage 3 breast cancer. Chemotherapy is usually administered as neoadjuvant therapy, meaning it is given prior to surgery. This approach is beneficial in that it can:

  • Shrink the tumor to make it easier to remove
  • Test that a particular chemotherapy is effective
  • In some cases, allow for a less extensive surgical procedure

Mastectomy or Lumpectomy

A mastectomy, which is the removal of the breast tissue, is often required to treat stage 3 breast cancer. Alternatively, a lumpectomy — also referred to as breast-conserving surgery or partial mastectomy — involves the removal of only the breast tumor and some of the surrounding normal tissue.

Many people with stage 3 breast cancer are not eligible for a lumpectomy and likely need a mastectomy to get rid of the tumor completely. However, if neoadjuvant chemotherapy can shrink the tumor enough, a lumpectomy might become a viable option.

Following surgery, some people may choose to have reconstructive surgery to restore the appearance of their breasts.

Radiation

Radiation therapy is often administered following an operation to kill off any remaining breast cancer cells that may have been missed by treatment.

Lymph Node Dissection

Lymph nodes containing cancer cells must also be removed. An axillary lymph node dissection is done to remove the lymph nodes in the armpit. The procedure is usually performed at the same time as a mastectomy.

Hormonal Therapy

Some breast cancers contain proteins called hormone receptors on the surface of breast cancer cells. The hormone receptors that play a role in breast cancer progression are the estrogen receptors and progesterone receptors.

Hormone receptor-positive stage 3 breast cancers can be treated with hormonal therapy drugs such as tamoxifen or exemestane (sold as Aromasin), which specifically target the hormone receptors.

Targeted Therapy

Targeted therapy drugs work by stopping the function of a particular protein or group of proteins. HER2 is a protein that is present at high levels in some breast cancers and affects how the cancer grows. HER2-positive stage 3 cancers may be treated with drugs that specifically target the HER2 protein.

Immunotherapy

If breast cancer cells are negative for ER, PR, and HER2, the cancer is called triple-negative breast cancer. Triple-negative breast cancer is difficult to treat effectively with standard treatments, so newer forms of treatment like immunotherapy may be used to improve outcomes.

Immunotherapy drugs work by interacting with a person’s immune system so that it can recognize and fight the cancer cells. Pembrolizumab (sold as Keytruda) is an immunotherapy drug that can be used along with chemotherapy to treat triple-negative stage 3 breast cancer that has returned or spread after surgery.

Prognosis for Stage 3 Breast Cancer

Stage 3 breast cancer is an advanced stage disease, so prompt treatment is crucial for improving the prognosis.

Overall, stage 3 breast cancer has a somewhat favorable prognosis with a five-year survival rate as high as 86 percent. This means 86 percent of people with the condition live at least five years after being diagnosed. This rate can vary depending on the exact substage of cancer. For instance, IBC has a markedly lower survival rate, closer to 41 percent.

Hormonal therapy and other targeted drugs have helped to improve outcomes for cancers with specific genetic features. Some people may be encouraged to participate in clinical trials, which can advance the discovery of new effective treatments for stage 3 breast cancer.

Talk With Others Who Understand

MyBCTeam is the social network for people with breast cancer and their loved ones. On MyBCTeam, more than 58,000 members come together to ask questions, give advice, and share their stories with others who understand life with breast cancer.

Have you or a loved one been diagnosed with stage 3 breast cancer? Share your experiences in the comments below, or start a conversation by posting on MyBCTeam.

Expert Update: Bladder Cancer Treatment & Research News

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Expert Update: Bladder Cancer Treatment & Research News  from Patient Empowerment Network on Vimeo.

Dr. Fern Anari reviews highlights from the ASCO 2022 meeting and shares her expert perspective on the future of bladder cancer treatment.

Dr. Fern M. Anari is a genitourinary medical oncologist and assistant professor in the department of hematology/oncology at Fox Chase Cancer Center. Learn more about Dr. Anari, here.

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Transcript:

Katherine Banwell:

Dr. Anari, cancer researchers recently came together for the 2022 ASCO meeting. Were there any highlights from that meeting that bladder cancer patients should know about?  

Dr. Anari:

Yes. So, our annual meetings are always a really exciting time to learn about and share the results of really cutting-edge research that’s been going on. And this year at ASCO 2022, I think there were several standout studies for various stages of bladder cancer. 

So, in patients with localized bladder cancer, again, similarly to what we discussed with immunotherapy and what we call BCG unresponsive bladder cancer, they looked at combining BCG with another new drug. And what they found is that the cancer shrunk down completely in over two-thirds of cases. 

And those responses tend to last over two years of follow-up. The drug was shown to be safe and tolerable. So, I think that’s a really exciting potential future treatment for people. There was another study that looked at a targeted treatment called enfortumab vedotin, which is typically used in the metastatic setting after someone’s received chemotherapy and/or immunotherapy. They looked at using that before surgery in localized muscle-invasive bladder cancer. 

The reason it’s important to look at drugs like this is because the standard of care right now is to give cisplatin-based chemotherapy before surgery to remove the bladder.  

But not everyone is eligible to get that cisplatin drug for various reasons. So, the current standard of care is to just go straight to surgery. But we know that by giving some form of a chemotherapy before, that helps increase cure rates. 

And what they actually found in this study looking at enfortumab vedotin is that they were able to shrink down cancer completely, meaning at the time of surgery there was no cancer left in the bladder 36% of the time, which is actually on par with our standard of care treatment that we use today.  

So, I think this also shows a lot of promise in patients who historically would need to go straight to surgery without any preoperative treatment. And then, lastly, HER2 is a type of targeted therapy as well that’s most commonly known in the breast cancer treatment world. But it’s also been looked at in bladder cancer.  

And there’s a new drug that’s being studied that really strongly targets HER2, which is expressed on some bladder cancer cells. So, they’re looking at this new drug in combination with immunotherapy, which is already approved in bladder cancer. And, again, I think this is another really promising combination for patients who’ve already received other treatments for their bladder cancer.   

Katherine Banwell:

It sounds like a lot of progress is being made in the field.  What are you excited about when it comes to bladder cancer research?   

Dr. Anari:

I think what excites me the most is being able to offer patients both the standard treatment options where, really, the clinical trials of yesterday are our standard treatments today. So, I’m excited to be able to offer them the standard treatment but also give them the background of why that’s approved and why we use it but also give them the hope that we have these really promising drugs.  

And, luckily, at our cancer center, we have access to a lot of these before they’re approved by the FDA. So, it’s really exciting to be able to offer this cutting-edge research in the form of treatments to our patients. 

What Questions Should Metastatic Breast Cancer Patients Ask Before Starting a Treatment Plan?

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What Questions Should Metastatic Breast Cancer Patients Ask Before Starting a Treatment Plan? from Patient Empowerment Network on Vimeo.

Before metastatic breast cancer treatment begins, it’s important to speak up and ask questions. Expert Dr. Sarah Sammons shares key questions patients should ask to ensure a personalized approach to their care and treatment.

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.

See More From INSIST! Metastatic Breast Cancer

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Transcript:

Katherine:

What key questions do you think patients should ask about their proposed treatment plan, to make sure they’re getting the most personalized approach for their disease?

Dr. Sammons:

That’s a great question. So, first and foremost – when you get an initial diagnosis of metastatic breast cancer, it can be nearly debilitating mentally at first, so it’s a little bit hard to be an advocate for yourself.

But it is so important, eventually, to become an advocate for yourself and the first thing that I would say is it’s very important that you have had a biopsy of a metastatic site. So, if something shows up on a scan that looks abnormal – maybe a liver legion or a lung legion – it’s very important that that area is biopsied and checked again for estrogen, progesterone, and HER2. And the reason for that is – there’s a phenomenon called subtype switching. So, a patient can – maybe her early-stage breast cancer was estrogen receptor-positive. There’s a 15 to 20 percent chance that her metastatic disease could be estrogen-negative, and it’s critical that we know what the estrogen and the HER2 are, so that we can treat them with the initial best treatments.

So, that’s number one. I think it’s very important to have a biopsy of your metastatic site, to repeat that estrogen and HER2.

Next, pretty important to have had at least germline BRCA testing. And the reason for that is: We now have drugs, the PARP inhibitors that I talked about before, that specifically benefit patients that have a BRCA mutation.

And then, the next would be – is there a role for next generation sequencing, which is the somatic gene testing of the patient’s tumor.

I would say practice patterns differ. For HER2-positive breast cancer, it’s probably not important to have that upfront because we have a very – it’s critical that we know that you’re HER2-

positive, so that we can give you those best HER2 targeted therapies in the first few lines. But we’re really not going to use that genomic sequencing information for really the first couple of years in metastatic, HER2-positive breast cancer.

For hormone receptor-positive breast cancer, I do think it’s pretty important to know what your genomic testing is – your next generation sequencing is – upfront. If you have an ESR1 mutation, then we know that you’re resistant to certain types of endocrine therapy, and we would not give you them. If you have a PI3-Kinase, then we would give you that if you qualified, otherwise we would give you that drug that targeted the PI3-Kinase mutation probably in the second line.

So, next generation sequencing is pretty important, either in first or second line, in hormone receptor-positive breast cancer.

Triple-negative breast cancer – the most important thing upfront is to know what your PDL1 status is. And it’s very important that if you’re PDL1-positive, you get immunotherapy with your first treatment because we know that immunotherapy, if you get it in later lines of treatment, does not work as well as if you get it in the first line.

So, it’s always really tough for patients to wait a couple weeks to get started on treatment, but as long as your disease is not growing so rapidly that your physician is concerned, which is on the rare end, it’s good to get all your ducks in a row, get all of the information that you need, so that you can be started on the best treatment.

Katherine:

Dr. Sammons, why should patients feel like they should speak up and that they have a voice?

Dr. Sammons:

Patients should feel like they should speak up and have a voice because this is their life. This is your life. This is your treatment. This is – nobody is going to advocate for you as well as yourself. If you’re lucky, you’ll find a physician that is an advocate, and many of us are, but nobody will advocate for you as well as you will advocate for yourself. So, that’s reason number one.

And reason number two would be: we’re all humans. Your doctors are humans. Some physicians, especially physicians in the community, may not only treat breast cancer. They may treat every single type of cancer, and it’s very hard to stay specifically on top of all of the new drugs and new options coming out in every tumor type; it’s virtually impossible.

So, I just think it’s important to be an advocate. Never be afraid to ask a question. Most physicians should not feel threatened by that. We like a patient to be engaged. So, never worry or be fearful about that. 

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

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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.