Tag Archive for: germline testing

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

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

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

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

See More From INSIST! Metastatic Breast Cancer

Related Resources:

Which Metastatic Breast Cancer Treatment Is Right for You? Guide

An Overview of Metastatic Breast Cancer Treatment Options

Key Considerations When Making Metastatic Breast Cancer Treatment Decisions


Transcript:

Katherine:

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

Dr. Sammons:

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

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

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

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

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

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

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

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

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

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

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

Katherine:

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

Dr. Sammons:

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

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

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

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

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

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

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

See More From INSIST! Metastatic Breast Cancer

Related Resources:

What Is the Role of Genetic Testing in Breast Cancer?

Essential Testing Following a Metastatic Breast Cancer Diagnosis

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


Transcript:

Katherine:

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

Dr. Sammons:

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

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

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

Katherine:

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

Dr. Sammons:

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

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

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

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

Katherine:

What is a genetic mutation?

Dr. Sammons:

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