Tag Archive for: genetic mutations

What Is the Role of Next-Generation Sequencing in MPNs

What Is the Role of Next-Generation Sequencing in MPNs? from Patient Empowerment Network on Vimeo.

 Myeloproliferative neoplasm (MPN) patients can take advantage of a medical advancement called next-generation sequencing. Watch to learn about next-generation sequencing, what it means for MPN patient care, and potential future developments from next-generation sequencing.

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Transcript:

Next-generation sequencing is a DNA analysis process that allows for sequencing of a portion of a patient’s genome. The process allows for processing of multiple DNA sequences in parallel. Next-generation sequencing also can identify hereditary cancer mutation carriers, cancer mutations, and other things.

Next-generation sequencing is another medical advancement that helps improve MPN patient care. By identifying cancer mutations and hereditary cancer mutation carriers, next-generation sequencing helps oncologists to further refine targeted therapies and personalized medicine – leading to optimal patient care.

As more research continues in next-generation sequencing, it’s possible that new genetic mutations will be discovered to further enhance quality of life with patient symptoms and treatment side effects.

Please remember to ask your healthcare team what may be right for you.

What Do Telegenetic Consultations Mean for MPN Patients?

What Do Telegenetic Consultations Mean for MPN PAtients? from Patient Empowerment Network on Vimeo.

Myeloproliferative neoplasm (MPN) patients have a telegenetic consultation as another option that has emerged for the telemedicine toolbox. Watch to learn about telegenetic consultations, what they mean for MPN patients, and future developments.

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Transcript:

Telegenetic consultations are those that can be carried out via telemedicine with genetic counselors. With the rise of genetic mutations playing a factor in cancer care and treatment decisions, it’s a natural progression for telegenetic consultations to become another option in the telemedicine tool box that protects patients from exposure to viruses and potential infections and saves them valuable time, energy, and travel costs.

With personalized medicine becoming an integral part of MPN patient care that analyze genetic mutations like JAK2 mutations and MPL mutations, telegenetic consultations make sense as another part of the tools for MPN care. The future of MPN care looks brighter with these virtual care options as part of the equation.

A form of tattoos called e-skins have now emerged as part of remote health monitoring. Used for detecting physical and electrical functions including heart, muscle, and brain activity, e-skins have shown reliability in monitoring tests even under body stress situations like sweating and while consuming spicy foods.

Please remember to ask your healthcare team what may be right for you.

Does Acute Myeloid Leukemia Prognosis Vary by Age?

Does Acute Myeloid Leukemia Prognosis Vary by Age? from Patient Empowerment Network on Vimeo.

With acute myeloid leukemia (AML), does prognosis change according to age? Watch as expert Dr. Catherine Lai explains factors that can impact AML treatment options and methods for optimal patient care.

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Advice for Acute Myeloid Leukemia Patients Seeking a Clinical Trial

Advice for Acute Myeloid Leukemia Patients Seeking a Clinical Trial 


Transcript:

Sasha Tanori:

Does prognosis of AML vary by age?

Dr. Catherine Lai:

So, yes and no. So let me answer that in two steps, so it does in the sense that older patients are more likely to have more comorbidities, so more medical problems, and so therefore have a higher likelihood of having complications, and also as patients get older, they acquire more mutations and more abnormality, so those molecular abnormalities, and so therefore, older patients then are become more challenging to treat as well. What I would say though, is that we typically risk-stratify based on molecular factors, so the different mutation than somebody has and the age and the comorbidities don’t necessarily play into that role of stratification, so for example, whether or not you’re receiving a transplant or not…age is a factor, if you’re kind of in that little risk category, the intermediate risk category, the other thing I would say is that for young patients, they are able to tolerate because many don’t have medical problems, so they are able to tolerate treatment better, so when I’m talking about numbers and likelihood of response and overall survival, those…all those mediums assume that somebody is in their mid-60s, and so I adjust the numbers because for younger patients that those numbers are likely higher…

Because they’re less likely to have complications.

Could Genetic Mutations Impact Your Prostate Cancer Treatment Options?

Could Genetic Mutations Impact Your Prostate Cancer Treatment Options? from Patient Empowerment Network on Vimeo.

Can prostate cancer treatment options be impacted by a patient’s genetic mutations? Expert Dr. Tomasz Beer defines precision oncology and explains how DNA repair and mutations can affect treatment options.

Dr. Tomasz Beer is Deputy Director at OHSU Knight Cancer Institute. Learn more here: https://www.ohsu.edu/people/tomasz-m-beer-md-facp.

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Prostate Cancer Treatment Decisions: How Do Genetic Test Results Impact Your Options?


Transcript:

Katherine:

Are there genetic mutations that affect the choices for prostate cancer treatment?

Dr. Beer:                     

Increasingly so. So, this is an exciting era in terms of those kinds of approaches. You may have heard the term “precision oncology” or “personalized oncology.” The ideas behind precision oncology is that each individual patient’s tumor is analyzed in detail for their biologic differences, and for the most part, those are mutations; although, it can be other. And that treatments may be available that work particularly well for patients whose cancers have a particular mutation. And so, today, there are a couple of categories of treatments that are FDA-approved and that can be used in prostate cancer treatment if the right mutations are present.

And one of those is a class of drugs called PARP inhibitors and those are indicated in patients with advanced prostate cancer who received some of our most commonly used routine treatments and who harbor mutations in a series of genes that are responsible for DNA repair. BRCA-2 or BRCA-2 is the most common of those, and that may be a gene that is familiar to people because it’s also a significant gene in terms of conferring risk of breast and ovarian cancer.

So, that’s the same gene we’ve been thinking about for breast cancer is also important in prostate cancer. There are other DNA repair genes as well that may sensitize a cancer to PARP inhibitors. Another area is something called microsatellite instability, which is a measure of how mutation prone a cancer is.

And cancers that acquire a large number of mutations are more likely to respond to immune therapies. And one might ask why that is, and it’s an interesting question. We believe it’s because, as a large number of mutations accumulate, we see more and more abnormal proteins that are made from those mutated genes, and those abnormal proteins, some of them are different enough from our native proteins, to cause the immune system to recognize them. And when we have an immune system that actually recognizes our cancer as foreign, we’re often able to amplify that immune signal and turn it into a potent anticancer weapon.

So, those are the two categories of mutations that we use in the clinic today, DNA repair and this microsatellite instability, but others are coming as we develop more targeted, specific agents designed for people with specific cancers who have specific mutations.

Katherine:                  

Dr. Beer, why should prostate cancer patients ask their doctor about genetic testing?

Dr. Beer:                     

Well, there are a couple main reasons for that. One is, of course, to examine their cancer and determine if they’re eligible for one of these targeted therapies. If we find those mutations, those patients have an extra treatment available to them. They can still be treated with all the hormonal therapies, chemotherapy, radiation-based treatments, but in addition to those, they have an additional targeted option. And so, that’s a real advantage for those patients who harbor those mutations. So, that’s really reason number one reason, number two is to potentially protect their families.

So, if a germline mutation is identified, that mutation can be passed on to kids. It may also be in other family members, brothers and sisters, and potentially be passed onto their kids. Important to understand that these mutations, as I alluded to earlier, are not just prostate cancer mutations. They can be passed through the mother. They can predispose folks to bre  ast cancer. So, a germline mutation may be something the family would benefit from knowing about. It’s a complicated area, learning about inherited cancer mutation in the family, could be very stressful and frightening.

So, I wouldn’t say this lightly. I think it needs to be done within the context of genetic counseling and good advice about how to communicate things like that and what to do with them. We want to be able to help people reduce their risk of cancer without taking an emotional toll on multiple members of the family.

So, it’s important, and it’s also important to do it thoughtfully and carefully.  

 

                  

 

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

How Do Genetic Mutations Impact Breast Cancer Risk, Prognosis and Treatment? from Patient Empowerment Network on Vimeo.

For breast cancer patients, how do genetic mutations impact risk, prognosis, and treatment? Expert Dr. Sarah Sammons provides insight about currently known genetic mutations and their impact on breast cancer care.

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:

What are the known genetic mutations that can increase breast cancer risk?

Dr. Sammons:

Very good question. So, about 5 to 10 percent of all breast cancers are related to inherited genes. The most common ones that most patients have heard of, or most people have heard of in the media, are the BRCA1 and BRCA2, the BRCA genes. Those genes make patients highly susceptible to developing breast cancer throughout their lifetime. We’re talking 60 to 80 percent risk.

There are, over time, other genes that we have found also predispose patients to developing breast cancer.

There are over 10 at this point. Some of the most common ones are CHEK2, PALB2, PTEN, TP53, and CDH1. There are a few others, but those are kind of the main ones.

So, really when you develop a diagnosis of breast cancer, your oncologist and/or your surgeon will take a family history. They’ll keep into account your age, the type of breast cancer that you have, and we really have specific criteria now in which patients would qualify for genetic testing.

Genetic testing not only has become important to understand if you have a gene that could predispose you or your family to breast cancer, but we now have drugs that specifically target or are biomarkers for BRCA1 and BRCA2.

So, now it’s going to become even more important to test patients with early state and metastatic breast cancer because we have drugs that could actually specifically target BRCA.

Katherine:

How do these mutations impact a metastatic breast cancer patient’s treatment path?

Dr. Sammons:

Sure. Well, we can start with germline. So, really, right now, the only germline mutations that really impact a patient’s treatment are the BRCA1 and the BRCA2 genes. So, for patients that have germline mutations in BRCA1, we have a class of drugs called PARP inhibitors, that have been

shown to be more effective than chemotherapy in those patients. So, really, any patient that has a HER2-negative breast cancer – these genes are approved in HER2-negative breast cancer, so triple-negative or hormone receptor-positive breast cancer in patients that have a BRCA mutation.

It’s pretty critical to have this germline testing done because if they do have a mutation, then we would have a therapy for them that was more effective than chemotherapy. So, that’s why it’s important in that setting.

We’re also learning more and more, and research is evolving, that probably patients that have germline PALB2 mutations also may benefit from PARP inhibitors, but that data is still evolving.

In terms of somatic gene mutations, or next generation sequencing, your doctor might say that, “I want to send your tumor to look at the genes in the tumor that will help me decide what could be the next best therapy for you.” So, we would get a biopsy or use an old biopsy, and send your tumor to a variety of different companies that do this type of sequencing.

Some of them include FoundationOne, Curis, Tempus. And it would come back with a panel that would show what genes were mutated in your breast cancer.

About 40 percent of patients with hormone receptor-positive breast cancer have something called a PIK3CA mutation. And we have a drug called alpelisib (Piqray) that specifically targets that mutation.

Germline mutations usually also show up in the somatic testing. So, a BRCA mutation may also show up. The next generation sequencing also tests something called tumor molecular burden, which tells us basically how many mutations are altered in the DNA of your cancer. And we know that if you have many mutations, that you might be more likely to benefit from immunotherapy.

So, that’s another thing that we look at when we send that genomic sequencing. So, there are a variety of mutations and biomarkers that we can learn from sequencing the breast cancer, that will help us decide what’s the next best treatment for you in your metastatic breast cancer course.

Katherine:

What about prognosis, Dr. Sammons? Do these genes impact how a patient’s cancer may behave?

Dr. Sammons:

That’s a good question. The short answer is: Research is still evolving in this area, but I would say yes.

Katherine:

It sounds like it’s a qualified yet.

Dr. Sammons:

It’s a qualified yes. So, I would say for germline BRCA1 – we know that patients with germline BRCA1 are more likely to have triple-negative breast cancer.

So, in terms of early-stage disease, we know that triple negative breast cancer has a worse prognosis, a higher risk of coming back. But the FDA actually just approved PARP inhibitors in the early-stage setting for patients with BRCA mutations because it reduced the risk of recurrence.

So, where that settles out: Yes, we know that BRCA1 carriers are more likely to have triple-negative. Triple-negative is more likely to relapse, but every year we have newer and newer therapies that reduce the risk of relapse.

In the metastatic setting, BRCA carriers sometimes actually have been shown to live longer than patients without BRCA mutations because they’re more likely to respond to chemotherapy. We have the PARP inhibitor option – for all of those reasons.

In terms of gene mutations in the tumor, we do know that patients that have something called ESR1 mutations – so, if you have a hormone receptor-positive breast cancer, you have something called an ESR1 mutation.

We know that that means that you would be resistant to many of our endocrine therapies. And patients that have ESR1 mutations do usually have a shorter prognosis than patients that don’t.

So, there are a variety of mutations that are appearing to have impact on prognosis. 

Could CLL Be Inherited?

Could CLL Be Inherited? from Patient Empowerment Network on Vimeo.

Can chronic lymphocytic leukemia (CLL) be inherited directly from parents? Dr. Jennifer Woyach discusses the likelihood of passing down CLL to children and the difference between genetic mutations and acquired mutations in CLL.

Dr. Jennifer Woyach is a hematologist-oncologist specializing in chronic lymphocytic leukemia (CLL) at Ohio State’s Comprehensive Cancer Center – James Cancer Hospital & Solove Research Institute. Find out more about this expert here. 

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Transcript:

Katherine:                  

We have another question from a patient who wants to know if their children will inherit CLL. Is there any link between inherited mutations and CLL?

Dr. Woyach:               

That’s a very, very common and really important question. I would say of the hematologic cancers, CLL is one with higher linkage in families, which means that people with CLL are more likely to have another family member with CLL though it’s still not very common.

And it’s very different from breast cancer or the solid tumors where we know that these specific mutations indicate families that are going to have risk of disease. There has actually been a lot of study over the years of families that tend to have multiple people with CLL. Unfortunately, there really have not been genes identified that are the reason for those family linkages. I think there has been only one family that I know of where they’ve actually found a gene that was likely the cause of multiple family members’ illnesses. So, yeah, there is no indication to test family members.

I tell people do not worry that you’re going to pass this to your children or your grandchildren. CLL is not something that we should be using as like a marker of whether you should have kids or should have anything like that.

So, maybe a little more likely in family members but not enough to really be worried about that.

Katherine:                  

What are the differences or difference between inherited and acquired genetic mutations?

Dr. Woyach:              

So, inherited mutations are those that you get from your parents. And there are lots of inherited mutations that, actually, can predispose to cancer. Specifically, I mentioned the TP53 mutation and CLL cells. Well, there are also people who inherit a TP53  mutation have risk factors for multiple cancers. And CLL, specifically, every mutation that we talk about is an acquired mutation. So, that’s also known as a somatic mutation. So, they’re mutations in the cancer cells. But if you did DNA sequencing of the normal cells, they would not be there.

What Should You Know About CLL Genetic Testing?

What Should You Know About CLL Genetic Testing? from Patient Empowerment Network on Vimeo.

In chronic lymphocytic leukemia (CLL) diagnosis and disease management, genetic testing plays a key role. Dr. Jennifer Woyach explains what is examined in CLL genetic testing, the timing and administration of testing, and testing advances.

Dr. Jennifer Woyach is a hematologist-oncologist specializing in chronic lymphocytic leukemia (CLL) at Ohio State’s Comprehensive Cancer Center – James Cancer Hospital & Solove Research Institute. Find out more about this expert here. 

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Transcript:

Katherine:                  

Before we get deeper into our conversation about genetics, there are a few terms that patients are often confused by. As a primer, I thought we could start by defining some of these terms. First, what is genetic or molecular testing?

Dr. Woyach:               

So, all cancer cells will have a collection of mutations or abnormalities in the DNA that either make the cell a cancer cell or make it behave in a certain way. And so, these mutations are referred to as the genetic abnormalities of the CLL cells. So, when we talk about genetic testing in CLL, we use it to mean a number of things. We can use it to look specifically for types of mutations so types of genetic abnormalities.

 We also sometimes use that as a kind of catch-all term like genetic or molecular testing also to refer to looking at changes in the chromosomes inside of a CLL cell. That’s also called cytogenetic testing. And then, we also use a number of tests in CLL where we look at specific, not necessarily abnormalities, but just changes in the cell that can indicate a certain type of behavior.

Katherine:                

How is this different from genomic testing?

Dr. Woyach:               

So, genetic and genomic testing, I think, are usually used interchangeably. But sometimes, we use them in different contexts but they really mean the same thing in this case.

Katherine:                  

Okay. And what is a chromosome change?

Dr. Woyach:              

So, as you might remember from biology class maybe a long time ago, as it was for me, inside a cell, so a normal cell or a cancer cell, you have the nucleus, which holds the DNA.

And the DNA is organized into chromosomes. And so, when a cell goes through division, it takes those chromosomes, copies them and then, breaks them apart into two different cells. So, changes can happen in the level of the DNA itself. So, a mutation where one base is changed to something different. So, that would be just like a single nucleotide change. And that’s something you’re not going to see as a change to a chromosome. Another thing that can happen in CLL and in other cancers, too, is that during that process of cell division, an entire chromosome could be duplicated. It could be absent.

More commonly, parts of chromosomes can change. This is all because cancer cells just do a very poor job of editing their division.

An in normal cells, there are multiple steps along the way from the process of copying the genes to copying the chromosomes to doing the division. And every step along the way, if something happens incorrectly, which happens a lot, the cell usually just dies. But a cancer cell is not going to do that because it has so many signals that keep telling it to stay alive that it can tolerate a lot of different abnormalities. And so, you end up with cells that are just very different from what you would see normally.

Katherine:                  

All right. Well, that’s a great way for us to start. Let’s go into the discussion of the relationship between testing and CLL. How is testing administered?

Dr. Woyach:               

So, almost all testing, in terms of molecular genomic testing in CLL, can be done on a blood sample. So, that’s one important thing.

The CLL guidelines recommend that testing for certain prognostic factors be done before the administration of therapy. So, at the very least, before somebody starts treatment, they should have these tests performed. In my practice and I think most CLL specialists find it really helpful to do these tests, not necessarily just at the time of treatment but really at the time of diagnosis or the time we first see the patient because CLL is a very heterogenous disease, which means that it behaves very differently in different people. So, there are some people that are diagnosed and will go 10 or 20 years before they need any treatment.

And many don’t need treatment at all. Whereas other people are very likely to need treatment within the first few years after diagnosis. Some of the genetic tests that we do can help counsel patients on where they’re likely to fall in that spectrum.

And so, I think that’s helpful for people to know early on in the disease course. But really, the tests can be performed at any time before treatment

Katherine:              

Have there been advances in testing?

Dr. Woyach:               

Absolutely. I think in every cancer, we’ve learned so much more about the biology of the disease, specific mutations that cause specific behaviors of cells, and really much more in CLL about the common genetic changes and what those means to response to therapy.

What Is CLL and How Is It Diagnosed?

What Is CLL and How Is It Diagnosed? from Patient Empowerment Network on Vimeo.

What exactly is chronic lymphocytic leukemia (CLL), and what factors help determine a diagnosis? Dr. Jennifer Woyach explains how CLL originates and transforms, the tests involved in diagnosis, and shares a common misconception about CLL.

Dr. Jennifer Woyach is a hematologist-oncologist specializing in chronic lymphocytic leukemia (CLL) at Ohio State’s Comprehensive Cancer Center – James Cancer Hospital & Solove Research Institute. Find out more about this expert here. 

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What Should You Know About CLL Genetic Testing?

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What Does It Mean to Have High-Risk CLL?

 

Transcript:

Katherine:                  

Well, Dr. Woyach, let’s start by understanding CLL. Would you briefly walk us through what CLL actually is?

Dr. Woyach:               

Sure. CLL is a cancer of the blood, the lymph nodes, and the bone marrow.

And it happens when a particular type of white blood cell called a B lymphocyte acquires genetic mutations and transforms into a cancer cell. And then, over time, those cancer cells continue to grow and divide. And they can cause symptoms such as enlarged lymph nodes if the cells get stuck in the lymph nodes and continue to grow there. It can cause a high white blood cell count, which usually doesn’t cause any symptoms but is one of the things that we see often in CLL. And then, it can also cause the bone marrow to not be able to produce normal cells because it can get so infiltrated or so full of CLL cells.

And this can cause things like anemia, which is lowering of the red blood cell count and thrombocytopenia, which is lowering of your platelet count.

Katherine:                  

What are the steps involved in reaching a diagnosis?

Dr. Woyach:               

CLL is an interesting disease because it’s one of the only cancers that does not require a biopsy of something for a diagnosis.

So, we can, actually, make the diagnosis of CLL based on the peripheral blood. So, just a blood draw in somebody’s doctor’s office. Usually, CLL is diagnosed in the asymptomatic stage. So, somebody goes to their primary care doctor, has blood drawn usually for another reason, and is found to have a high white blood cell count or sometimes even a fairly normal white blood cell count but a high percentage of lymphocytes. That certain type of cancerous white blood cell. So, the next step in the diagnosis then is something called peripheral blood flow cytometry, which is a specialized test where we look at the markers or antigens on the surface of white blood cells.

So, there is kind of a code of these markers on the surface of all of your blood cells that can tell what type of cells they are. So, for CLL in particular, we’ll see that the cells express some of the normal markers we would see on a normal B lymphocyte.

Things like CD19, CD20, CD23. But they also express a marker called CD5, which is found on normal T lymphocytes but shouldn’t be found on B lymphocytes.

And so, this collection of surface markers can make the diagnosis of CLL. Sometimes, we do need to do extra studies like a bone marrow biopsy or a lymph node biopsy. But often times, those are not necessary at the time of diagnosis.

Katherine:                  

When you meet with patients, Dr. Woyach, what are some common misconceptions that you hear about?

Dr. Woyach:               

I think the biggest thing that I hear, and granted I see a lot of patients after they’ve been diagnosed by someone, gone to see an oncologist and then, come to me after, but one of the common things that I hear is that somebody has told them along the way that they have the good type of cancer, which I think is not a very helpful thing to hear as a patient because, of course, no cancer is a good type of cancer.

I think it’s important to note that CLL is one that has a lot of treatment options and usually extended survival. But I think that’s one of the most common misconceptions that I hear.

How Can You Advocate for the Best Breast Cancer Care?

How Can You Advocate for the Best Breast Cancer Care? from Patient Empowerment Network on Vimeo.

Breast cancer expert Dr. Julie Gralow explains how you can advocate for the best metastatic breast cancer care, through speaking up, utilizing care team members and taking key steps to achieving better care.

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 here.

See More From INSIST! Metastatic Breast Cancer


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How Genetic Mutations Affect Metastatic Breast Cancer Disease Progression and Prognosis

Factors That Guide a Metastatic Breast Cancer Treatment Decision

What Could Metastatic Breast Cancer Genetic Testing Advances Mean for You?


Transcript:

Katherine:                  

For patients who may be hesitant to speak out for themselves and advocate for their own care and treatment, what advice do you have?

Dr. Gralow:                

You have a whole team who’s behind you, and I’m the MD on the team, but I’ve got a nurse practitioner, and a nurse, and a scheduler, and a social worker, and a nutritionist, and a physical therapy team, and financial counselors. I’ve got a whole team who works with me. And so, a patient might be hesitant to speak up during the actual appointment with their physician. It’s a short amount of time. I would recommend come into it with written-down questions because things go fast. You don’t get a lot of time with your doctor.

Things go fast, but don’t come in with 25 questions, either. Pick your top few that you want to get taken care of this visit because if you come in with 25 or 30, you’re going to lose the answers to most of them. Maybe bring somebody with you who’s an advocate and a listener for you who could be taking notes, so you can process and you don’t have to write it down, or ask if you can record it. It’s really important if you’re newly diagnosed or maybe there’s a progression and you’re going on a new treatment. That’s okay too.

But, I would also say you have a whole team behind you, so sometimes, if you don’t have time or if you’re hesitant to speak up in your doctor’s visit, you can ask the nurse, or maybe you can ask the social worker for help, even. See if there’s support groups around.

Interestingly, we’ve got a peer-to-peer network where patients can request to talk to somebody else who’s matched to them by some tumor features, and their stage, and things like that. Maybe finding somebody else who’s gone through something similar, and somebody independent to talk to instead of relying on your family.

It can also be really helpful to talk to a therapist or a psychologist about your fears, and sometimes, you want to be strong for your family, strong for your children and all, but you need a safe space with somebody that you can just express your fears and your anger if that’s what’s going on, or your depression or anxiety to while you’re trying to hold a strong face for others in your family. So, I would encourage patients to look at who is the whole team and talk to the other members of the team as well, and sometimes, they can help advocate.

Also, find somebody who might be able to come to your appointments with you, somebody who will help you advocate or remind you – “Didn’t you want to ask this question?” – or be another set of ears that you can process it with afterwards.

Katherine:                  

Dr. Gralow, we’ve covered a lot of useful information today for patients. Thank you so much for joining us.

Dr. Gralow:                 

Thank you, Katherine.

Katherine:                  

And, thank you to all of our partners. To learn more about breast cancer and to access tools to help you become a proactive patient, visit powerfulpatients.org. I’m Katherine Banwell.

What Are Essential Genetic Tests for Metastatic Breast Cancer Patients?

What Are Essential Genetic Tests for Metastatic Breast Cancer Patients? from Patient Empowerment Network on Vimeo

Genetic tests can help guide metastatic breast cancer care. Dr. Julie Gralow discusses essential genetic tests for metastatic breast cancer, and how results impact treatment decisions.

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 here.

See More From INSIST! Metastatic Breast Cancer

Related Resources:

 

How Genetic Mutations Affect Metastatic Breast Cancer Disease Progression and Prognosis

Metastatic Breast Cancer: Debunking Common Misconceptions

What Could Metastatic Breast Cancer Genetic Testing Advances Mean for You?

 


Transcript:

Katherine:                  

For a patient to get diagnosed, what are the essential tests?

Dr. Gralow:                

So, we’re talking about metastatic breast cancer here, and in the U.S., maybe up to 10% or slightly less of breast cancer is technically Stage 4 or metastatic at diagnosis. That means at the time we first found it in the breast, it had already spread beyond. So, an important thing that we’ll do with a newly diagnosed breast cancer is especially if there are a lot of lymph nodes are involved or the patient has symptoms that might say there’s something in the bone, liver, or lung is staging.

So, we’ll use scans – maybe a CAT scan, bone scan, or PET scan – and we will look at whether the disease has gone beyond the breast and the lymph nodes, and if so, where. So, maybe 8-10% of breast cancer diagnosed in the U.S. already has some evidence that it has spread beyond the breast, but the most common way that metastatic breast cancer happens is that a patient was diagnosed possibly years and years ago, treated in the early-stage setting, and now it comes back, and that is the most common presentation for metastatic breast cancer, and sometimes that can be due to symptoms.

As I said, if it comes back in the bone, maybe that’s bone pain. If it’s in the lung, it’s a cough. There are symptoms. Sometimes, it’s because we’ve done a blood test or something and we find some changes there.

And so, when a breast cancer has recurred, it’s really important to document that it’s really breast cancer coming back, first of all, and so, if we can, we generally want a biopsy, and we want to stick a needle in it if it’s safe to do, and look and verify that it looks like breast cancer, and also, it’s really important that we repeat all those receptors that we talked about from the beginning because it can change.

So, a cancer up front 10 years ago could have been positive for estrogen receptor, but the only cells that survived – mutated, changed – were estrogen receptor negative, so what comes back could be different. So, it’s really critical to get that biopsy, repeat the estrogen/progesterone receptor and HER2, and also, in an ideal world, now that it’s 2020 and we’re moving more toward genomics, to do a full genomic profile and look for other changes and mutations that could drive our therapeutic options.

So, staging, knowing where the cancer is, getting a good baseline by understanding where it is and how big it is so that we can follow it and hopefully see that it’s responding to treatment, and then, repeating all of the biology components so that we know what the best options are for treatment are really critical.

Katherine:                  

Right. How can patients advocate for a precise breast cancer diagnosis, and why is that important?

Dr. Gralow:                

Well, all those things I just mentioned are key. Knowing exactly where it is so that we can monitor it – for example, if the cancer has come back in the bones, we would add what we call a bone modifying agent, a drug like zoledronic acid or denosumab – Zometa or Xgeva – which can suppress bone destruction from the cancer, but if it’s not in the bone, we wouldn’t add that.                                   

And, we want to have a good look everywhere so that we can see if it’s responding because sometimes, the tumor can respond differently in one area than another. Also, I think it’s really important to know what your treatment options are by doing that biopsy, getting a full panel, and looking at potentially hundreds of genes that could be mutated, deleted, or amplified so that we know what our treatment options are.

And, we’re not going to use all the treatment options up front, so it’s helpful for knowing that if this treatment doesn’t work or is too toxic, what are the second-line or third-line options? So, we make sure that there’s what we call good staging up front so we know where the cancer is, and then we make sure that we’ve looked at it as best we can in 2020 with all the genomics.

 That would give us the best chance of being tailored – individualized – to the tumor. Sometimes, if we can’t biopsy it, like with a needle that would go into a liver spot, then increasingly, we’re looking at what we call liquid biopsies, and that can be drawing the blood and seeing if we can find parts of the tumor, whether it be the DNA or the RNA that’s floating around in the blood, and sometimes we can get that information out of the blood as well.