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.

INSIST! Metastatic Breast Cancer Resource Guide

Download This Guide

PEN-122_ResourceGuide_BCInsist

Download This Guide

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


Related Resources:

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.

How Can Breast Cancer Genetic Testing Empower Women?

How Can Breast Cancer Genetic Testing Empower Women? from Patient Empowerment Network on Vimeo.

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.

Dr. Stephanie Valente is the Director of the Breast Surgery Fellowship Program at Cleveland Clinic. More about this expert here.

See More From INSIST! Metastatic Breast Cancer

Related Resources:

 

Transcript:

Dr. Valente:                

So, genetic testing in this day and age is really empowering to a lot of women. So, it allows women to take control of their health from the beginning. So, if somebody has a strong family history of breast cancer, and that woman doesn’t have breast cancer but wants to know if she’s at an increased genetic risk for developing breast cancer in her lifetime – Knowing that risk and if a gene is identified, that woman could undergo high-risk screening.

So, saying if she develops breast cancer, it would be caught early, and she can go into a high-risk program. Or she can elect to prophylactically – meaning before cancer – remove her breasts. That would be both of the breasts with a mastectomy – Again, with or without reconstruction. And so, that decreases the risk.

Nothing in life is 100%. But it essentially decreases the risk of getting breast cancer. Some of the genes, like the BRCA gene – that’s a very common gene – is a 60% to 80% lifetime risk of developing breast cancer. And so, that would take that lifetime risk down to about 5% risk of developing breast cancer. And so, that’s empowering for a lot of women. And so, some women do elect to have that procedure.

The other thing for genetic testing is that for women who are diagnosed with breast cancer, sometimes the triple-negative breast cancer – finding out whether or not they carry a BRCA gene. We know that certain genes in triple-negative breast cancer allow patients to have better treatment outcomes with certain chemotherapy. So, the medical oncologist may opt to add a specific chemotherapy based on whether or not that patient actually carries a genetic mutation.

Essential Testing Following A Metastatic Breast Cancer Diagnosis

Essential Testing Following a Metastatic Breast Cancer Diagnosis from Patient Empowerment Network on Vimeo.

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

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

See More From INSIST! Metastatic Breast Cancer

Related Resources:

 

Should You See a Breast Cancer Specialist?

Are You Prepared for Your Breast Cancer Appointment?

What Do Breast Cancer Patients Need to Know About COVID?

 

Transcript:

Dr. Flaum:                  

When someone has either a diagnosis or a suspected diagnosis of metastatic cancer, meaning a diagnosis of cancer that has spread somewhere outside of the breast. And the most important initial step is establishing a tissue diagnosis. So, we could have our suspicions based on imaging, based on symptoms, but the most important thing is to confirm it. And usually that confirmation involves some type of tissue biopsy. So, collecting cells, examining them under the microscope, making sure that the diagnosis in fact, is cancer. Making sure that the cancer has spread from the breast, which is something that is definable under the microscope for the most part. And then evaluating various molecular markers within the tumor itself that are critical to guiding treatment.

So, in addition to the tissue diagnosis, the other important first step is what we call cancer staging. So, establishing the extent of the tumor within the body, which typically involves some type of scans, which may be variable depending on the situation or depending on the physician often could be a CT scan and a bone scan, maybe a PET scan. There may be an MRI.

So, a number of different tests that help us establish where the tumor is at baseline, so we can better understand the anatomy, but also to follow down the road to establish whether any given treatment is working. There are also maybe discussions of other types of molecular testing beyond what we determined in terms of the traditional biologic markers. You might hear the terms next generation sequencing tests like Foundation, Guardant, Tempus, which better define the cancer’s biology, which increasingly is becoming useful in terms of targeting treatment to someone’s specific cancer.

So, the molecular tests are looking at a few different things. So, first and foremost from a breast cancer standpoint, the most important basic molecular markers are what we consider to be the four main receptors, which is the estrogen and progesterone receptor, which dictates whether a given tumor is driven by estrogen and importantly dictates whether anti-estrogen therapy is going to be an appropriate component of the treatment. The other basic marker is called HER2, which is a protein that’s over-expressed.

In about 20% of breast cancer patient cells, and it’s also very critical in terms of guiding treatment. For specific types of breast cancer, once we know those preliminary molecular markers, then there’s an array of other types of anomalies within the tumor itself that could help to guide specific treatment. So, a couple of examples, and I can talk about that when you talk about treatment. If someone has a genetic predisposition to breast cancer with a BRCA mutation, there’s a specific treatment that might be appropriate. More recently, there’s another abnormality that can be detected by these tests called a PI3-Kinase mutation that identifies a population of patients who could be appropriate for another type of targeted therapy. So, for an individual, knowing what their particular profile is, whether or not those treatments are going to be indicated right at the beginning of treatment or maybe something that we use down the road. Inevitably, they’re going to help us understand what our tools are when we’re helping to make those decisions.

What is the Role of Genetic Testing in Breast Cancer?

What is the Role of Genetic Testing in Breast Cancer? from Patient Empowerment Network on Vimeo.

Breast cancer expert Dr. Julie Gralow discusses the role of genetic testing in metastatic breast cancer care, reviewing the impact of inherited–and acquired–genetic mutations on treatment options.

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:

 

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

What Are Essential Genetic Tests for Metastatic Breast Cancer Patients?

Metastatic Breast Cancer: Debunking Common Misconceptions

 

Transcript:

Katherine:                  

All right. Dr. Gralow, when you meet with patients, what are some of the more common misconceptions that you hear related to diagnosis?

Dr. Gralow:                

Well, I think people do confuse – especially at an early diagnosis – that the metastases, the travel to the local lymph nodes, is not the same as a metastatic breast cancer, so we spend some time talking about how it’s still curable and not considered a distant metastasis if the lymph nodes are in the armpit or up above the collarbone, and so, that’s something that we spend some time talking about.

This whole term of “metastatic recurrence” – unfortunately, when you start looking online and get your information from Dr. Google, you read right away that it’s no longer curable, and in 2020, yes, that’s true. That’s probably the most specific statement that we can make. We are not going with curative intent, which means we treat for a defined amount of time, and then all the disease goes away, and we stop treatment, and then you go on with your life, and it never comes back. That would be cure.

But, I think it’s really important to point out that much of metastatic breast cancer can be highly treatable, and what we hope to do – and certainly, at least a subset of metastatic breast cancer – we want to convert it more to what we would call a chronic disease, and so, think of it more like hypertension, high blood pressure, or diabetes. These are diseases that we generally don’t cure with treatment, but that we can control with drug therapy, which sometimes has to be adjusted, and if we don’t control it, we can get some bad complications.

So, that’s not all metastatic breast cancer, unfortunately – we can’t convert all of it to something where we can use a therapy for a long time that keeps it in check and where you have a pretty good quality of life – but we’re hoping that more and more, we’re getting targeted therapies and more specific treatments to patients so that we can convert more patients to a more chronic kind of situation.

Katherine:                  

Many people are confused about genetic testing. They often think that it relates to ancestry or physical traits like hair and eye color. What’s the role of genetic testing in breast cancer?

Dr. Gralow:                

Well, you can do genetic testing of the patient’s inheritance, which is how most people think of genetic testing, and that’s actually really important and increasingly important in metastatic breast cancer to do your own inheritance. Have you inherited a gene that was associated with how your cancer developed? Because now, we actually have a class of drugs called PARP inhibitors that are approved for tumors that have a BRCA1 or BRCA2 mutation with them. Most of those mutations were inherited, but not all. Sometimes they can develop as well.

So, now, when my patient – if she didn’t previously have genetic testing for an inherited risk for breast cancer either coming from mom or dad’s side of the family, a lot of people do have that up front, especially if they’re younger at diagnosis or they have a lot of family members with breast cancer. If she didn’t have that genetic testing done previously, at the time of the metastatic occurrence, I’m going to recommend that that be done because knowing if the cancer is associated with one of these DNA repair genes – BRCA1, BRCA2, some other genes – we have a new treatment option, which is an oral pill that actually is highly effective if the tumor has a mutation in one of these.

But, we can also – so, that’s genetic testing of the patient’s own DNA, but we can also do what we call genetic testing – or genomic testing, if you will – of the genes of the cancer. What were the changes in the DNA at the gene level that caused a normal breast cell over time to develop into a cancer cell that’s now growing without responding to our body’s checks and balances? So, what were those mutations, deletions, or amplifications in the tumor itself?

So, we’ve got the patient’s genetics, we’ve got the tumor’s genetics, and both of those come into play when we’re making our best treatment recommendations and trying to understand what the right approach is.

Katherine:                  

How is testing administered?

Dr. Gralow:                

So, for our inherited testing, those gene changes can be found in every cell in the body, so we can do that from a simple blood test where we just look at the blood cells. We can actually do it with our sputum and with a cheek swab, even. You can get enough of the DNA from the inside of the mouth to do that.

For a tumor’s genetics, we need some of the tumor, so that’s either done with a biopsy into the metastatic site or, as I mentioned before, increasingly, we’re exploring the potential for a liquid biopsy – so, drawing some blood and then trying to find pieces of the tumor that are shed into the blood.

How Genetic Mutations Affect Metastatic Breast Cancer Prognosis and Treatment

How Genetic Mutations Affect Metastatic Breast Cancer Disease Progression and Prognosis from Patient Empowerment Network on Vimeo.

Dr. Julie Gralow explains the impact of genetic mutations on metastatic breast cancer progression and prognosis, including how DNA repair genes function. 

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:

 

Metastatic Breast Cancer Staging: What Patients Should Know

What Are Essential Genetic Tests for Metastatic Breast Cancer Patients?

Metastatic Breast Cancer: Debunking Common Misconceptions

 

Transcript:

Katherine:                  

You’ve been referring to a number of terms. Patients may have heard the BRCA or “braca” that relate to breast cancer in genetics. Would you give us an overview of common mutations in breast cancer?

Dr. Gralow:

So, of the mutations that we can inherit, the first two that were discovered were BRCA1 and BRCA2, and for all breast cancer – not just metastatic, but all breast cancer – we think that maybe 5-10% of breast cancer is the direct result of the inheritance of a strong gene that gives you a high – not 100%, but a high likelihood of developing breast cancer.

So, for BRCA1 and 2, these two genes are associated predominantly with breast and ovarian cancer, and if you live out your normal lifespan, you could have up to a 75-80% chance of getting one of those two cancers, and breast cancer being more common. Also, some association with some other cancers including, interestingly, prostate cancer, which we’re learning more about.

So, BRCA1 and 2 are the most common, and they tend to be found – because they have such a high association with the risk of breast and ovarian cancer, they tend to be found in families that have a lot of other breast cancers, and also breast and ovarian cancer presenting at a younger age. So, you’ve inherited a gene that leads to a high predisposition, and the cancer occurs earlier.

So, whereas the average age of diagnosis of breast cancer in the U.S. is 61-62 most commonly, in a patient who’s inherited a BRCA1 or 2 gene mutation, it’s closer to 40-42 – so, a lot younger. And then, there are a variety of other genes that can be inherited that are either much less common or have a weaker link. So, for example, there are genes called CHEK2 or PALB2, ATM, P53 – I just mention that because some of the listeners will potentially have one of those mutations or have heard it. Those are either rarer or they’re associated with a weaker chance of getting cancer.

So, those might be more commonly found in a family that doesn’t have a lot of cancer in it because a carrier – the mother or the father – and their other relatives would have maybe only a 30% chance of getting breast cancer in some cases. So, there would be a lot of carriers who don’t get cancer.

So, as I mentioned earlier, I think it’s really important – especially right now in metastatic breast cancer – that pretty much everybody, even if you didn’t have a strong family history, even if you weren’t diagnosed at a young age, get tested because if we find one of these inherited mutations, we now have some additional treatment options, especially right now, approved for BRCA1 or 2, but clinical trials going on for many of these other genes.

Katherine:                  

How do these mutations affect disease progression and prognosis?

Dr. Gralow:                

So, most of the genes I’ve mentioned – in their normal state, they’re critical, actually. They’re called DNA repair genes, and their job in our life is when we accidentally make a mistake when we’re replicating our DNA and two cells are dividing, if there’s a mistake in the DNA, they go in and repair it. And, we’ve got all kinds of mechanisms to try to prevent mutations from happening as cells divide, and BRCA1 and 2 are a key part of that, and so, they’re fixing it.

So, if you inherit a mutation in one of those genes, you still have some ability to repair any routine mistakes that are being made, but over time, you have less ability, and then, if you get a cancer that has a deficiency in BRCA1 or 2, those cancers can be more sensitive to certain kinds of chemotherapy that affects DNA repair.

So, for example a class of chemotherapy agents called the platinum drugs – carboplatin and cisplatin – may be more effective in BRCA1- or 2-mutated cancers, also more generally in triple negative breast cancer because they can be more similar to BRCA1-mutated cancers in a lot of ways.

So, to go back to your original question, once a cancer has developed in a patient who has a BRCA1 or 2 mutation, we treat that cancer for what it is. So, it might have developed estrogen – have estrogen receptor on the surface or HER2, so we treat it as the subtype that developed, and actually, the chance of cure is just the same for BRCA1-associated breast cancer as it would be for one that doesn’t have a BRCA.

But, the chance of getting a second breast cancer – a totally new breast cancer – would be higher unless you chose to remove both of your breasts and the bulk of your breast tissue. So, decisions like surgery – if you had a known BRCA1 mutation, we’d treat the cancer you have now aggressively and for cure, but when you talk about your surgery options, we’d say doing more aggressive surgery, like removing both of your breasts – that’s not going to improve your chance of surviving the cancer you have now, but it will markedly reduce the chance of getting a second breast cancer.

So, you could consider that as an option for surgery – not to improve your chance of this cancer, but to reduce the chance of another breast cancer. So, your surgery decisions might be impacted by knowing your BRCA1 or 2 mutation. And then, clearly, if you had metastatic breast cancer, knowing if you had the option of a PARP inhibitor, one of the drugs in that class could be – you could have a different treatment option for drug therapy.

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

What Could Metastatic Breast Cancer Genetic Testing Advances Mean for You? from Patient Empowerment Network on Vimeo.

How do genetic testing advances impact metastatic breast cancer patients? Dr. Julie Gralow discusses these advances, including treatment developments, and the importance of retesting over time. 

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

Factors That Guide a Metastatic Breast Cancer Treatment Decision

How Can You Advocate for the Best Breast Cancer Care?

 

Transcript:

Katherine:                  

What advances have there been in testing?

Dr. Gralow:                

Well, it used to be – just going back a couple of years ago – that we didn’t do a lot of this genetic testing or genomic profiling of the tumor because we didn’t have many – the term is an “actionable mutation.” So, if we found something, would we do something with it? Did we have a drug we could use to do it? But, more and more and more, even in breast cancer, we’re finding actionable mutations that would drive therapy.

For example, in estrogen receptor positive breast cancer, we have a new class of targeted therapies called PI 3-kinase inhibitors – a drug called alpelisib or Piqray was approved in the last couple of years in that category – and it only is effective in estrogen receptor positive breast cancer that has a mutation in the PI 3-kinase gene. So, that would be something we’re looking for in the tumor’s genes, and actually, we need to know that there’s a mutation to even get the drug approved for treatment because it doesn’t work if you don’t have that mutation.

Increasingly, we’re finding some changes that can happen in the estrogen receptor gene and the HER2 gene, interestingly, so that you can have estrogen receptor expressed on your tumor, but over time, that tumor might develop an estrogen receptor mutation so that it stops responding to certain drugs that target the estrogen receptor.

And so, that’s called an ESR1. That’s the name of the estrogen receptor gene – an ESR1 mutation – and that would tell me probably not going to respond as well to a drug in the class we call aromatase inhibitors, but might respond better to a drug in the class that we call the selective estrogen receptor degraders like fulvestrant or Faslodex, is the name of a drug in that class.

We’re also finding that you can have what we call activating mutations in HER2, and they can be present whether the tumor overexpresses HER2 or not, and we’ve got some ongoing clinical trials looking at if the tumor doesn’t have extra HER2 on its surface – so, it doesn’t have extra HER2 protein, but at the gene level, it’s got an activated HER2 gene – we can use certain types of HER2 therapy to treat it, and we’re testing that right now in clinical trials.

So, could we even use some HER2 drugs even though technically, the tumor would be classified as HER2 negative? So, fascinating increasing information that we’re understanding, and I also mentioned before we can inherit mutations in genes such as BRCA1 and 2, but fascinatingly, the tumor can acquire those mutations. Even if we didn’t inherit a mutation, we can see mutations in the BRCA1 and 2 gene – we call those somatic as opposed to germline mutations. So, “germline” means it’s in every cell in your body, but “somatic” means the tumor somehow acquired this over time.

And so, we’ve done – we just presented some very early results of a trial, and we’re expanding this trial, looking at if you didn’t inherit a BRCA1 or 2 mutation, so technically, you don’t qualify for a PARP inhibitor, but if the tumor acquired a mutation and we can prove that with testing the tumor’s DNA, then we have seen responses from these PARP inhibitors, so that opens up another whole class of treatments, and there are other DNA repair genes that actually may be qualified as well that we can inherit or that can be acquired by the tumor.

So, more and more, we’re doing this genomic profiling, and it is leading to results that would give us possible treatment options.

Katherine:                  

Dr. Gralow, the goal of this program is to provide the confidence and tool for patients to advocate for the essential tests to get best care personalized to them. Are there specific tests that patients should make sure they have?

Dr. Gralow:                

Well, there are a lot of assays out there to do this genomic profiling or genetic testing of the tumor, so I don’t promote any one. Various institutions do it and do it well, various companies do it, but I think every metastatic patient should have the tumor looked at in this kind of profiling.

I also think every metastatic patient should advocate for having a biopsy of their cancer, and if a biopsy cannot be done safely in the recurrence, then see if they could get a liquid biopsy – have blood drawn to find it. So, I think that patients should be asking about this. Sometimes, insurance won’t always cover it, and so, my job as a treating physician is to advocate for that, to do an appeal.

More and more, because we have so many actionable mutations in breast cancer now, I’m not having insurance decline, but occasionally, it does, and then it’s our job as the healthcare providers to make the case that yes, this will impact the patient, and yes, it should be covered by insurance.

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.

What Is A Breast Bioposy?

A breast biopsy is a test that removes tissue or sometimes fluid from the suspicious area. The removed cells are examined under a microscope and further tested to check for the presence of breast cancer. A biopsy is the only diagnostic procedure that can definitely determine if the suspicious area is cancerous.

The good news is that 80% of women who have a breast biopsy do not have breast cancer.

There are three types of biopsies:

  • Fine-needle aspiration
  • Core-needle biopsy
  • Surgical biopsy

The latter two are the most commonly used on the breast.

There are several factors that help a doctor decide which type of biopsy to recommend. These include the appearance, size, and location of the suspicious area on the breast. Before discussing biopsy results, let’s first distinguish between the three types of biopsies.

What is fine-needle aspiration?

In most cases, a fine needle aspiration is chosen when the lump is likely to be filled with fluid. If the lump is easily accessible or if the doctor suspects that it may be a fluid-filled cystic lump, the doctor may choose to conduct a fine-needle aspiration (FNA). During this procedure, the lump should collapse once the fluid inside has been drawn and discarded. Sometimes, an ultrasound is used to help your doctor guide the needle to the exact site, whereby sound waves create a picture of the inside of the breast.

If the lump persists, the surgeon or radiologist, a doctor who specializes in medical imaging such as x-rays and mammograms, will perform a fine needle aspiration biopsy (FNABx), a similar procedure using the needle to obtain cells from the lump for examination.


What is a core-needle biopsy?

Core needle biopsy is the procedure to remove a small amount of suspicious tissue from the breast with a larger “core” (meaning “hollow”) needle. It is usually performed while the patient is under local anesthesia, meaning the breast is numbed. During the procedure, the doctor may insert a very small marker inside the breast to mark the location of the biopsy. If surgery is later required, the marker makes it easier for the surgeon to locate the abnormal area.

The radiologist or surgeon performing the core-needle biopsy may use specialized imaging equipment to guide the needle to the desired site. As with fine-needle aspiration, this may involve ultrasound.

During an ultrasound-guided core needle biopsy, the patient lies down while the doctor holds the ultrasound against the breast to direct the needle. On the other hand, during a stereotactic-guided core-needle biopsy, the doctor uses x-ray equipment and a computer to guide the needle. Typically, the patient is positioned lying on the stomach on a special table that has an opening for the breast, and the breast is compressed, similar to a mammogram.

Occasionally, no imaging equipment is used, but this is typically only in cases where the lump can be felt through the skin. This type of procedure is called a freehand core-needle biopsy.

There are fewer side effects associated with a core-needle biopsy than with surgical biopsy.

What should I expect from a surgical biopsy?

(Also known as “wide local excision,” “wide local surgical biopsy,” “open biopsy,” or “lumpectomy”)

As with a core-needle biopsy, a surgical biopsy is done while the patient is under local anesthesia. Typically, this test is performed in a hospital setting where an IV and medications are administered to make the patient drowsy.

The surgeon makes a one- to two-inch cut on the breast and then removes all or part of the abnormal lump and often a small amount of normal-looking tissue, known as the “margin.” If the lump cannot be easily felt but can be seen on a mammogram or ultrasound, a radiologist may insert a thin wire to mark the suspicious spot prior to the surgeon performing the biopsy. Once again, a marker is usually placed internally at the biopsy site at the conclusion of the procedure.


What Can Be Learned From The Biopsy Results?

Once the biopsy is complete, a specially trained doctor called a pathologist examines the tissue or fluid samples under a microscope, looking for abnormal or cancerous cells. The pathology report, which can take one or two weeks to complete, is sent to the patient’s doctor. It indicates whether the suspicious area is cancerous and provides a full picture of your situation. For the patient, waiting for results can be a real challenge, but being able to make an informed decision regarding your treatment is well worth it. Your doctor will go over the report with you and, if necessary, discuss the treatment options.

If no cancer cells are found, the report will indicate that the cells in the lump are benign, meaning non-cancerous. However, some type of follow-up or treatment may still be needed, as recommended by the healthcare professional.

If cancer cells are found, the report will provide more information to help determine the next steps.

The report for a core-needle biopsy sample will include tumor type and the tumor’s growth rate or grade. If cancer is found, the pathologist will also perform lab tests to look at cells for estrogen or progesterone receptors.

In the case of a surgical biopsy, the results reveal data about the type, grade, and receptor status of the tumor, as well as the distance between the surrounding normal tissue and the excised tumor. The margin, as we mentioned earlier, shows whether the site is clear of cancer cells.

A positive margin means cancer cells are present at the margin of the tumor. In cases of positive margins, the cancer has spread beyond the immediate area.

A negative margin or clear margin indicates there are no tumor cells at the margin. That means the cancer is contained in the area nearest to the tumor.

A close margin means that the space between the cancerous tissue and surrounding normal tissue is less than about 3 millimeters (0.118 inch).

If you have a biopsy resulting in a cancer diagnosis, the pathology report will help you and your doctor talk about the next steps. You will likely be referred to a breast cancer specialist, and you may need more scans, lab tests, or surgery. Your medical team uses the pathology report and the results of the other tests to determine the stage of cancer and to design the best treatment plan for you.


Material on this page courtesy of:


Related reading:

What Patients Should Know About CT Scans and MRIs

As patients, we normally rely on our doctors to tell us which tests and medications to take for the betterment of our health. Rarely do we question them since they know a whole lot more than most of us when it comes to medical ailments and overall health. However, that doesn’t mean you can’t find out more about the various suggestions doctors make.

If you have an ailment in the body and your doctor finds it hard to determine exactly what it is, they will likely ask you to get either a CT scan or MRI done. The tests are used to provide a detailed view of your internal body to help determine the ailment. We breakdown the two for your better understanding:

CT Scans

CT scans provide imaging using x-rays at different angles. This scan is more in-depth as compared to an x-ray. X-ray tests use a beam of radiation from a set angle and display the image. Since a CT scan uses a series of radiation beams at different angles, it slices the same image up, giving a 3D view so doctors can understand the ailment better. With the help of a computer, an image is produced. CT scans can help determine ailments such as cancer, bone injuries, and chest and lung ailments.

MRI

Magnetic resonance imaging (MRI) uses a magnetic field instead of radiation and provides a more detailed image of the body which also includes soft tissues along with the internal body. It is used to help diagnose the following:

  • Brain injury
  • Cancer
  • Damaged blood vessels
  • Spinal cord injury
  • Stroke
  • Multiple sclerosis
  • Bone infections
  • Damaged joints
  • It can also be used to ensure that various organs are healthy.

Both methods are noninvasive and rely on heavy technology. But when it comes to CT scans, more and more hospitals are opting for mobile CT scanners, which make it easier for them to manage.

Getting Ready for the Test

Preparing for CT Scan and MRI is slightly different. With CT scans, your doctor may recommend you take a contest dye. The dye helps highlight the scanned region more and is generally consumed when scanning the abdomen. It is important to notify your doctor if you have any allergies because you may react to the dye. If you’ve previously had reactions to prednisone (a steroid), iodine, or seafood then the doctor should be immediately notified. Other than that, the doctor may ask you not to drink or eat several hours before the test.

For an MRI, the one thing you need to make sure is that you are not wearing anything that can be detected by magnets. This means, no jewelry, watches, hearing aids, glasses, and other items that may have a metal can be worn during the test. In some cases, a gadolinium dye may be recommended which is injected into the hand or arm. The dye highlights certain details in the imaging and rarely results in any type of reaction. The test can be lengthy for some as it takes anywhere from 30-45 minutes, so if you are claustrophobic, you may want to discuss that with your doctor since you are required to stay in a closed space for that period.

The Test

  • CT Scan: You will be asked to put on a robe and remove jewelry and other metal objects so they don’t have any impact on the image produced. The scanner itself is a doughnut-shaped machine and you lie on a flat table in the middle. The table starts to move back and forth and x-ray tubes fitted into the scanner send out beams and different angles. They pass through your body to the other end of the scanner. The test is painless but make sure you are comfortable because you will be asked to stay still as the scan is going on.
  • MRI: The MRI machine is a long narrow tube that is open at both ends. Like in a CT scan, you lie down on a flat movable table that slides into the tube. As you slide in, the table stops at the specific part of the body being examined and a magnetic field is created and radio waves are directed to the body. The machine does make tapping and thumping noises, so the technician will likely offer earplugs to block it out.

Understanding the Test Result

After getting either a CT scan or MRI done, you will need to consult your doctor. Unless you are a trained doctor, the images will make little to no sense to you. You will need to consult a radiologist that can explain the results to you. In case of an ailment, they will usually recommend you consult a specialist, depending on the ailment, that can assist you further.

As a patient, it is important for you to understand the tests and treatment doctors recommend. Most of the time, you can consult your doctor and they will be more than willing to give you the information you need. Knowing makes it easier for you to undergo the tests and treatments with a little more ease.

Breast Cancer Before 40: What You Should Know

Breast Cancer Before 40: What You Should Know from Patient Empowerment Network on Vimeo.

Dr. Stephanie Valente reviews key information for women under the age of 40 with breast cancer, including risk, treatment approaches and the role of genetic testing.

Dr. Stephanie Valente is the Director of the Breast Surgery Fellowship Program at Cleveland Clinic. More about this expert here.

Related Program:

Breast Cancer Before 40: How Can I Preserve My Fertility?


Transcript:

Sure. So, when we talk about breast cancer in young women, usually we are referring to women under the age of 40. And the prevalence for breast cancer in general is one out of eight women. For women under the age of 40, it’s about a seven percent incidence of breast cancer. So, it’s about a seven percent incidence in the general population in the United States. So, that’s about 12,500 women per year are diagnosed under the age of 40 with breast cancer.

So, the prevalence has pretty much been the same over the years. We used to think that women diagnosed at a younger age had a more aggressive breast cancer. But the more we look at things, the more we realize that women under the age of 40 usually are diagnosed at a later stage because it’s not something that somebody in their 20s or 30s is thinking that a breast lump equates to cancer. So, these women unfortunately present at a later stage.

Many times, it’s because they are pregnant, breastfeeding or just not having any family history where the first thing they think of when they get a lump is that they actually have breast cancer.

So, the first thing is women under the age of 40 usually present at a later stage, meaning that they have larger cancers, and the cancers because they are larger have had more time to spread to the lymph nodes. So, these women they don’t necessarily have more aggressive breast cancers than older women, it’s just that it’s found at a later stage.

So, the treatment options are the same for young women with breast cancer. So, depending on the size of the tumor and the size of her breast, women are given the option for a lumpectomy which usually is follow by radiation versus a mastectomy. And studies have shown that either surgical choice is a good option for women. And that one surgery doesn’t make a young woman, or an older woman live any longer.

That the survival for breast cancer is based on stage not the choice of surgery that they pick.

So, one of the first things is that women under the age of 50 – the average age for breast cancer in the United States is between 64 and 68.

So, if you are under the age of 50 or under the age of 40 there’s a higher chance that maybe these women carry a gene that would increase the risk of getting breast cancer. And so nowadays, we test over 21 genes. But these genes can increase their risk of getting breast cancer not only in the breast they have the breast cancer in, but in their other breast as well. It also increases the risk for other types of cancers such as ovarian cancer. And they could potentially pass this gene on to their kids.

So, sometimes women – and this is the great thing about academic medicine. Everything is changing so quickly with the modern research. So, a lot of times a woman who is triple negative, which is an estrogen receptor negative breast cancer.

If they are genetic positive for the BRCA gene, they qualify for certain medications or chemotherapy that we know targets specifically that type of cancer and their gene. So, that’s why it is important for some of these women to get genetic testing to see if the certain chemotherapy regimens or medicines that we have would benefit their type of cancer.

So, one of the things for any woman diagnosed with breast cancer at a young age is to offer those women genetic testing. And sometimes it can be a relief or sometimes it can be very challenging for these women to think, “Oh my gosh. I have this gene. I’m at increased risk for more cancers.” And that potentially they could pass that on to their children.

So, having the women who come in meet with a genetics counselor to go over the risks. And the reality is that of all the women under the age of 50 that test for the gene, only 10 percent actually carry the gene.

So, the good thing is that 90 percent most likely don’t have the gene. But it still is an anxiety provoking thing for these women to go through.

Another thing is that these women a lot of times are younger. So, they have either two things – young children to take care of which is extremely difficult to mange an already stressful motherhood. You throw in a diagnosis of cancer, whether or not there is a dad involved or a father that needs to help out with these kids. A lot of times their families need to help out. So, we have a psych oncologist that’s part of our team. And it’s really great. How do you tell your kids you have cancer? And how do you manage kind of day-to-day life with going through this? So, that’s another great program that is offered. And importantly for a woman who doesn’t have children but maybe desires to have children or even to have more children than the ones that she has,
looking at fertility options for young women is huge.

So, we know that some of the chemotherapy that we give breast cancer patients decreases their ability to have children in the future. So, the chemotherapy can shut down the ovaries. So, sometimes women – and this is the great thing about academic
medicine. Everything is changing so quickly with the modern research. So, a lot of times a woman who is triple negative, which is an estrogen receptor negative breast cancer.

If they are genetic positive for the BRCA gene, they qualify for certain medications or chemotherapy that we know targets specifically that type of cancer and their gene. So, that’s why it is important for some of these women to get genetic testing to see if the certain chemotherapy regimens or medicines that we have would benefit their type of cancer.

So, the one thing is that I tell these women that breast cancer takes a good year between chemotherapy if they need it, surgery, radiation of they need it and the whole process of recovery. That is really takes a good solid year before they are kind of done going to their doctor’s appointments. But the reality is that for an early stage breast cancer, studies have show for young women the overall survival is over 92 percent. So, I say, “This is going to be a tough year. We are going to get through this together. And the good thing is that you are going to be alive in five, 10, 15, 20 years. And so, our goal is to get you the best quality of life not only now but in the future.”

As far as hope for young women with breast cancer, things are changing so fast. The medicine that’s out there – we’re doing these studies where women are getting chemotherapy and by the time they get to surgery about 40 to 60 percent of the tissue that I take out has no residual cancer. That’s phenomenal. That means that the medications that these women are getting are working really well for their cancer. And so, the hope is that in 10 years I don’t have a job because the medicine that they are getting works so well that the cancer can be removed without needing surgery. And so, I think in our lifetime we will find either a cure or a complete resolution of breast cancer.

Identifying Biomarkers Gives Doctors Known Targets to Treat Many Cancers

This blog was originally published by Cancer Treatments Centers of America on August 21, 2019, here.

Biomarkers
Doctors are increasingly relying on biomarkers, which help determine a patient’s overall health and/or the presence of disease. Learn what biomarkers are and why they are increasingly important in cancer care.

When faced with opposition, it’s beneficial to learn as much as possible about the opponent. A pitcher reads a scouting report before facing a lineup. An army consults intelligence before engaging the enemy in battle.

The same principles apply to the treatment of some cancers. When treating a tumor, it’s important for a doctor to know as much as possible about that cancer—specifically, what is driving the tumor’s growth.

To get the inside information on a tumor, doctors are increasingly relying on biomarkers, short for biological markers, measurable signs or substances in the body that may indicate a patient’s overall health and/or the presence or progression of disease.

The discovery of biomarkers in cancer drastically changed the course of cancer treatment. For decades, many cancers were treated similarly, with surgery, radiation therapy or chemotherapy. Identifying biomarkers in cancer cells has led to the development of new precision medicine drugs, such as targeted therapy and immunotherapy, designed to target specific features in cancer cells, potentially reducing the damage to healthy cells. “The routine use of a variety of biomarkers has substantially changed the way in which cancer medicine is practiced,” says Maurie Markman, MD, President of Medicine & Science at Cancer Treatment Centers of America® (CTCA), “from providing more accurate prognostic information to assisting in the prediction of specific therapeutic strategies that are more likely to result in a favorable outcome for an individual patient.”

What are biomarkers?

A biomarker is any measurable indicator of a person’s health. Blood pressure is a biomarker, as are body temperature, blood sugar and cholesterol measurements. In cancer, biomarkers also include proteins, hormones, gene aberrations, such as mutations or rearranged genes, and other molecules found in or on cancer cells. Cancer biomarkers may be found in routine blood, urine or stool tests. Others may require a biopsy and/or advanced genomic testing to uncover. “Genomics has made it so much easier to find gene mutations,” says Arturo Loaiza-Bonilla, MD, MSEd, FACP, Vice Chair for the CTCA® Department of Medical Oncology. “Now we may be able to target a mutation and potentially get the cancer to stop growing.”

Biomarkers play multiple roles in the treatment of diseases, such as cancer, including:

Diagnostic: Helping confirm the presence of disease, sometimes before symptoms develop

Prognostic: Helping forecast the progression and aggressiveness of the disease and the risk of recurrence

Predictive: Helping doctors identify how patients may respond to certain drugs

Biomarkers may play any or all these roles and more. Some biomarkers may be used to assess a patient’s risk of developing disease, the effectiveness of a treatment or whether a treatment is safe or toxic.

Common cancer biomarkers include:

  • BRCA1 and BRCA2 genes: Mutations in these genes may increase a woman’s risk of breast and ovarian cancer. In men, it may increase the risk of prostate cancer.
  • PSA: Prostate specific antigen may indicate prostate cancer. This biomarker may be used not just to diagnose the disease, but to measure its progression and how the treatment is performing.
  • HER2: Human epidermal growth factor receptor 2 is found in many cancers, especially breast cancer. The targeted therapy drug trastuzumab and other similar monoclonal antibodies may be a treatment option for patients with HER2-positive cancers.
  • BCR-ABL: This gene, known as the Philadelphia chromosome, is found in patients with chronic myelogenous leukemia. Presence of the gene may indicate the patient may respond well to treatment with a tyrosine kinase inhibitor drug such as imatinib.
  • PD-L1: Programmed death ligand 1 is the companion receptor to PD-1. It may indicate a cancer’s ability to evade the immune system. Immunotherapy drugs called checkpoint inhibitors may be an option to treat cancers high in PD-L1.
  • CA-125: High levels of cancer antigen-125 are found in many cancers as well as other diseases. Treatment options for cancers with CA-125 vary depending on where the cancer originated.
  • MSI-H: Microsatellite instability-high is a mutation in the DNA of cells found in many cancers, especially colorectal cancer. Checkpoint inhibitor drugs have been approved for cancers with MSI-H.

Difficult targets

Biomarkers don’t always tell the full story. Discovery of a biomarker that might indicate an increased cancer risk doesn’t mean a patient will get cancer. Not all cancers have identifiable biomarkers. And identifying a driving biomarker in a cancer does not necessarily lead to a treatment option. Some biomarkers for cancer have no corresponding targeted therapy or immunotherapy drug. For example:

  • TP53: Tumor protein 53 is a tumor suppressor gene designed to help stop cancer cells from growing. TP53 mutations are the most common found in cancer cells and may be found in most types of cancer.
  • RAS: About 30 percent of all cancers, including 95 percent of all pancreatic cancers, have known mutations in the RAS family of genes that control cell death and growth.

No targeted therapy drugs have been approved specifically to treat cancers with these mutations. “A number of recognized critical signaling pathways in cancer development, progression and resistance remain very difficult to ‘target’ to influence clinical outcomes,” Dr. Markman says. “The ability to successfully and safely target either or both of these pathways has the potential to be an important advancement in cancer management.”

Many cancers, especially solid tumors, have multiple biomarkers, any one of which may be able to drive a cancer’s growth. Target one biomarker, and another may take over as the driving mutation. And not all the same biomarkers are found in every cancer cell. “As cancer cells grow, they start to develop new abnormalities, mistakes made while the cells are multiplying,” Dr. Bonilla says. These new mutations may make the cancer more resistant to treatment.

Also, doctors need to take steps to prevent the patient from being harmed by the process of targeting a specific biomarker. For instance, patients on a checkpoint inhibitor that targets cancers high in PD-L1 may develop symptoms of autoimmune diseases, such as colitis. “The goal is to find the specific biomarker that every single cell expresses without compromising the normal cells,” Dr. Bonilla says, “because once you tell the immune system to kill a population of cells, it is going to kill all those cells, whether they are good or bad. But if you are able to find the specific biomarker that is the hallmark of this disease and needs to be eliminated, then it’s much easier to find a therapy.”

The discovery of biomarkers has led to game-changing developments in the cancer treatment. Women who learn they have BRCA mutations are now empowered to make potentially life-saving decisions to prevent breast and ovarian cancer. Men with slow-developing prostate cancer can now actively monitor their disease, in part, because their PSA levels can be measured. And research is ongoing to find new biomarkers to help in the treatment of other cancers and diseases, such as diabetes, Parkinson’s disease and heart disease.

“Biomarkers offer an opportunity to apply genomics to population health and see what diseases or conditions people may be predisposed to,” says Pamela Crilley, DO, Chair of the CTCA Department of Medical Oncology. “Am I going to get diabetes? Am I going to get elevated cholesterol? Is there anything I can do about it? Look at hereditary breast and ovarian cancers. The science has led to being able to prevent disease in patients with BRCA1 and BRCA2 mutations. Now we may be able to significantly reduce your risk of disease.”

Patient Profiles: Breast Cancer Part III

This is the last installment in our three-part series profiling breast cancer survivors. In Part II, the women gave insight into the importance of their mental health and their own attitude as critical components of care. They also shared some of the ways in which they coped with cancer. Today, the women talk about the possibility of recurrence. So, we pick up with the final stage of Shannon’s preventive measures. Based on her history, she knows her cancer can come back, but she wanted to do everything she could to prevent it.

Shannon’s treatment didn’t stop at reconstruction. She opted to have an oophorectomy, which meant she had her ovaries and fallopian tubes removed. Remember, her moms’s cancer had returned and been terminal, so Shannon wanted to take every preventive measure she could. “My fear and my worry is that hers came back 16 years later and she died at 65. If the same thing happened to me, I would die before I’m 60,” says Shannon. Her breast cancer diagnosis meant she was at higher risk for female cancers and she wanted to do whatever she could to have as much time as she could. “I’m relatively young,” she says. “I wanted to give myself as long as I could.” In order to have the procedure, Shannon had to take medication that would put her into menopause and the side effects that came with menopause affect her quality of life, so she says she goes back and forth on whether or not she would do the oophorectomy, if she had it to do all over again.

Although she did have melanoma a couple of years ago, Tina has been 27 years without recurrence of breast cancer. “I didn’t really feel safe until five years out,” she says, but adds that you never really know if it’s coming back, and that you should always be vigilant about checking for lumps. There is a risk of late recurrence, i.e. breast cancer that comes back more than five years after diagnosis and treatment, and it is more likely if it was later stage when first diagnosed, and if the cancer was HR positive.

Like Tina, Betty also had a second cancer. Her colon cancer was discovered in 2009 and her doctor estimated that it had been growing for ten years, but because of where it was growing in relation to the colon wall, the tumor was able to be cleanly removed and no treatment was required. Because her breast cancer was ductal and not in the tissue, and her doctor was able to get very clean margins, Betty says she doesn’t worry about it returning. “I’m more afraid of the colon cancer returning,” she says.

Diana has been nine years without recurrence, but she says, “My guard is always up.” Maybe it’s because her mother and grandmother both had breast cancer, and, despite being BRCA negative, she believes her cancer is hereditary. Shannon feels the same way and says she believes 100 percent that her cancer is genetic. The genetic testing available is limited compared to the number of genes in the human body so, Shannon says, “There’s a long way to go.” And, while it’s early for Shannon to think about recurrence, she can’t help but consider it. “I don’t want to spend every day thinking about cancer. I don’t want that to be my life,” she says, “but it is in the back of my head.” Not knowing how the cancer might come back makes Shannon especially uneasy because she doesn’t have a plan for it.

When Meredith finished treatment, her doctor said he didn’t expect to see her back for recurrence. The odds were in her favor that she would remain cancer free. Meredith, like Betty, says she got the best cancer to get if you’re going to get cancer, but unlike the other ladies, Meredith was not expecting to get cancer. She didn’t have the same family history. Her only red flag was that she had an aunt that had ovarian cancer and she thought maybe her grandmother had breast cancer when she was 90. Meredith was young, she had three small children, and breast cancer was not on her mind. In fact, she was so sure she didn’t have it, that she took her 18-month-old daughter with her when she got the results from her lumpectomy. But, Meredith, who is also BRCA negative, did have cancer, and while her cancer was ductal, it was bigger than it should have been, and there was also a spot on her other breast that needed to be watched. Wanting to be proactive Meredith opted for a double mastectomy with reconstruction. She also had chemotherapy, because the cancer was found in a lymph node, and she lost all her hair. While she possibly could have gone without radiation, she opted for it. Again, she wanted to be aggressive and as proactive in her treatment as possible. She wanted to make sure her cancer was gone.

About a month ago, Meredith found another lump under her arm. She had a scan that was all clear except for the spot where the lump is located. She and her doctors are hoping it is just scar tissue, but she’ll have a lumpectomy this week and then she’ll wait for the biopsy results, which she is guessing will take several days. “The waiting is the worst,” she says. Liz, as a caregiver, felt the same way about waiting, “The worst part of all of it was waiting for the results.”

Tina, who also had young children at diagnosis, recalls that she just wanted to live long enough to raise her children. She says she found it difficult to accept the idea that she might die before her kids were grown. That thought is clearly on Meredith’s mind as well. “I remember saying, ‘Just give me five more years,’ and now it’s been seven years, and I’m saying, ‘Just give me seven more years,’ but no amount of time is enough,” she says. You can hear in her voice that she’s trying to be brave, and she says, “Hopefully, it will all be fine,” but it’s scary because, even though Meredith got the best cancer you can get if you’re going to get cancer, it is still cancer.

Anxious to hear Meredith’s results? We are, too, and as soon as she gets her results, she’s promised to follow up with us. We’re hoping for good news, and we will let you know as soon as we can.


Sources:

https://www.breastcancer.org/symptoms/understand_bc/statistics

https://www.breastcancer.org/symptoms/diagnosis/hormone_status

https://www.breastcancer.org/research-news/20080813

http://www.who.int/cancer/events/breast_cancer_month/en/

https://www.cancer.gov/types/breast

https://www.cancer.gov/about-cancer/causes-prevention/genetics/brca-fact-sheet#q2

Patient Profiles: Breast Cancer Part II

In the first part of of this three-part series, you were introduced to Betty, her daughter, Liz, Shannon, Tina, and Diana. You learned that women who are diagnosed with breast cancer are not really all that surprised to get a diagnosis. They are often expecting it. Having breasts is a risk factor, and women have breasts. In today’s installment, you’ll meet Meredith. She wasn’t expecting to get breast cancer. But, before we meet her, we’ll pick up where we left off in part one: the matter of hair loss and chemotherapy.

Whether or not a survivor lost her hair during cancer treatment, it’s one of the first things she says about her experience. Shannon even lost her eyelashes and they never came back. She says she knows it’s a little thing, but it still bothers her. Betty, didn’t lose her hair. Like a growing number of women, she did not have to have chemotherapy. She says avoiding chemo made a huge difference in her experience. At the time, Betty was receiving treatment at a research hospital, and there was a test available to her that would determine how beneficial chemotherapy would be in treating her cancer. She was told that if she scored between a one and a 19, she would not need chemotherapy. Betty scored an 18. While she had to pay for the costly test out of pocket and wait for insurance to reimburse her, she says it was worth it. “It was so helpful,” she says. “Because of what chemo does to your body, you don’t want it unless you need it.” Side effects from chemotherapy can include anemia, diarrhea, fatigue, fertility issues, hair changes/loss, memory loss, neuropathy, menopause and menopausal symptoms, mouth and throat sores, nausea, vaginal dryness, vomiting, bone loss/osteoporosis, heart problems, and vision problems. The test Betty had is now being more widely used and, as you may have read on the Patient Empowerment Network blog in the June Notable News here, researchers have learned that 70 percent of women don’t need chemotherapy when they have the most common type of early-stage breast cancer, with low and moderate risk of recurrence. The test looks at cells from a tumor biopsy to determine what is known as a patient’s recurrence score. Patients are scored between zero and 100, with zero being the lowest risk of recurrence. Researchers now know that women who score less than 25 do not necessarily need chemotherapy.

Betty also did not need to have a mastectomy. She had a lumpectomy followed by intraoperative radiation therapy, a 30-minute procedure that involves surgically placing a ball of radiation in the spot where the tumor had been. The procedure meant that Betty only had to have a single radiation treatment, and it helps reduce the side effects of radiation. Betty was eligible for that form of radiation in part because of the size of her breasts. She says she told the doctor, “I’ve been lugging around these big things my entire life and they are finally paying off.”

The intraoperative radiation was another benefit of being at a research hospital. At the time of Betty’s treatment, the procedure wasn’t being widely used and wasn’t available through her local doctors. Receiving treatment at a research hospital also made a difference in Diana’s care. She recalls going in to her local doctor’s office for her test results, and no one in the office would make eye contact with her. Then, when the doctor came in to see her, he told her she had breast cancer, that he wanted to treat it right away, that he’d see her next Tuesday, and then he left the room. Diana says she was left there shaking. “He has a heart, but he didn’t show it,” says Diana, who then went to a research hospital for a second opinion. Her new doctor was much better, she says, and adds that the shoulder of his lab coat was always dirty from the smudge of make up left behind after his patients hugged him.

The importance of good doctors that you are comfortable with seemed to be one of the critical components of care to all the women.They all talked about how much they liked and appreciated their doctors. “A really good physician realizes psychological and spiritual care are just as important,” says Tina, who sought the services of a psychologist after her treatment. She was struggling with anxiety and depression and found that the counseling really helped her to work through her emotions about having cancer, which emphasizes another, perhaps the largest, critical component of care during treatment: emotional and mental support and health. Diana says she found support online and emphasized the importance of staying positive through treatment. “Count your positives,” she says. “That is the key.” Along the same line, Betty says, “The number one thing is attitude.” Actually, she and Liz say “attitude” in unison, and Betty adds, “I think attitude is a big piece of it.” Meredith Cronin who was diagnosed at age 37, says “Attitude is everything.” Meredith, who had three children under the age of six when she was diagnosed, says she understands how easily you could get depressed as a cancer patient. “I always say that I felt blessed that I was young and so busy that I didn’t have time to be depressed.”

Shannon, who was accused of being negative because of her detailed planning to get breast cancer before she actually had breast cancer, says she wasn’t negative; she was realistic and it was that take on it and her preparation and planning that helped her maintain emotional balance.“It didn’t affect me emotionally as much as I think it would have,” she says. Shannon coped through research and attention to details, and she describes her experience in the kind of detail that makes you think she’d just had it done yesterday rather than three years ago. Betty used a different method of coping and says she’s been able to let a lot of the experience go. “I don’t dwell in that place,” she says. She and Liz also found a lot of humor in the experience. The clickity-clack of someone’s shoes, Betty’s preoccupation with cutting out recipes from a magazine, or the ridiculousness of what must have been an excruciating procedure, were all fodder for coping. It’s not that Betty doesn’t take cancer seriously, but she was better able to cope with the diagnosis by finding humor in the situation. “We laughed through our tears,” she says. Liz says that early on in the experience, they imagined the worst possible scenario, which made handling what really happened more doable. The ways of coping with cancer are as varied and vast as are the treatment options.

Next time, in Part III, recurrence.


Sources:

https://www.breastcancer.org/symptoms/understand_bc/statistics

https://www.breastcancer.org/symptoms/diagnosis/hormone_status

https://www.breastcancer.org/research-news/20080813

http://www.who.int/cancer/events/breast_cancer_month/en/

https://www.cancer.gov/types/breast

https://www.cancer.gov/about-cancer/causes-prevention/genetics/brca-fact-sheet#q2