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

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

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

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

See More From INSIST! Metastatic Breast Cancer

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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.

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

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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.

See More From INSIST! Metastatic Breast Cancer

Related Resources:

How Genetic Mutations Affect Metastatic Breast Cancer Prognosis and Treatment

An Overview of Metastatic Breast Cancer Treatment Options

Key Considerations When Making Metastatic Breast Cancer Treatment Decisions

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. 

How Can Patients Learn About Developing CLL Research?

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How Can Patients Learn About Developing CLL Research? from Patient Empowerment Network on Vimeo. 

Dr. Danielle Brander explains why it’s important for chronic lymphocytic leukemia (CLL) patients to stay up-to-date on developing research and treatment news. Dr. Brander also shares resources for learning more about clinical studies.

Dr. Danielle Brander is Director of the CLL and Lymphoma Clinical Research Program at Duke Cancer Institute. Learn more about Dr. Brander here.

See More From the Path to CLL Empowerment

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Transcript:

Dr. Brander:

I think it’s very important that patients and their caregivers stay informed and advised of opportunities to participate in ongoing research. I think there’s a misconception that with all the favorable progress in treatment options available for CLL, that there’s no longer the need for clinical research participation.

Though, there are a lot of novel options available for CLL, there’s still a lot of ways that we can improve care for patients. That is, there are trials with the next-generation inhibitors or for patients traditionally with harder to treat CLL or may become resistant to the novel agents, there’s a lot of trials looking into how do you combine the novel agents to give patients the best options. And then a lot of the research, too, are not just in the treatments.

But as our science advances into looking at other markers of the CLL cells, or what we call the depth of response, how much CLL you kill with the treatments and how low of a level we can get in terms of detection. This may result in a situation where patients have the opportunity to receive novel treatments, have a really good response, and then potentially stop the treatments and be followed off of therapies, so have the benefit of novel treatment but not with having to go on an ongoing drug forever and ever.

When I talk to a patient about opportunities for clinical trials, I’m really focused on the patient in front of me. That is, I wouldn’t offer or talk about a trial if I didn’t think it potentially could benefit the patient in front of me.

And again, though we’ve had a lot of advances in treatment options, there are certainly a lot of ways that we can engage and hopefully help patients moving forward. There’s been recent studies across all cancers showing that unfortunately a very low percent of patients are offered and enrolled and participating in clinical research studies, and I think it’s really important that patients know there’s a lot of opportunities out there that potentially could benefit them.

The different ways to be advised and informed, again, are some of the resources online educationally for CLL and lymphoma that often post about different sites for clinical trials. There’s a clinical trials.gov web site that all sites in the United States that are enrolling trials with patients have to log clinical trials, and though that has to be updated, it often can be a good beginning site.

But in the end, hopefully the best resource is your treatment team, your oncologist, and your other team that can help point you to what trials might be eligible for you, either at the location where you are or close by.

The last part I’ll point out is though we focus a lot on the treatment clinical trials, in CLL, where patients don’t always need treatment right away or may have treatment and have a response and then have a long period of time afterward, is that many centers are helping to engage patients in research that is not necessarily done during the time of their treatment. Again, to try to understand why some patients have a longer course until they require treatment, or why they might have responded differently, or other ways we can improve their care.