Host
Heather Simonsen, MA
Public Affairs Senior Manager
Huntsman Cancer Institute
Vera Kazakova, MD
Oncologist, Huntsman Cancer Institute
Assistant Professor of Oncology at the University of Utah
Whitney Maxwell, CGC, MS
Director, Inherited Cancer Research Shared Resource at Huntsman Cancer Institute
Understanding High Breast Cancer Risk (00:50)
Heather Simonsen: You're listening to Delivering a Cancer-Free frontier podcast.
Assorted Voices: To create and provide better treatments. Today, we can bring these discoveries and the science-based medicine to people in need around the state, region and the world. I feel like the future is very bright, and I can't even imagine what cancer care is going to look like over the next 50 years. To continue that journey to eradicate cancer from the face of the earth.
Heather Simonsen: Hello and welcome to Delivering a Cancer-Free Frontier. I'm your host, Heather Simonsen. In the United States, women have a one in eight chance of developing breast cancer in their lifetime. That's just the average. Some women are lower risk, and some women are higher.
Most women are familiar with getting preventative annual mammograms starting at 40, as risk increases with age. But what about women who are at higher risk? What should they do to decrease their cancer risk, and how can they understand their own chances of developing the disease?
At Huntsman Cancer Institute, women can find guidance at our Breast Cancer Risk Clinic. We have two of their experts joining us on the podcast today. The first is Vera Kazakova, medical oncologist at Huntsman Cancer Institute and assistant professor of oncology at the University of Utah.
Vera Kazakova: Hi everyone, a significant part of my clinical practice is caring for individuals who are at increased risk for breast cancer.
Heather Simonsen: And the other is Whitney Maxwell.
Whitney Maxwell: I'm a genetic counselor in the Family Cancer Assessment clinic and the director of the Inherited Cancer Research Shared Resource. I specialize in hereditary breast cancer, both in clinic as well as do a lot of research in hereditary breast cancer. And I've been doing that since I came to Huntsman about nine years ago.
Heather Simonsen: I asked them to start with the basics. What does it mean for a person to be high risk of breast cancer?
Vera Kazakova: We say that someone is in high-risk category for being diagnosed with breast cancer when their lifetime risk is estimated to be 20% or higher. Many of the individuals who come to our high-risk clinic actually have risks well above 20%, and their estimated risk of breast cancer may reach 5060, or even 80% during the lifetime.
Whitney Maxwell: I think about three different categories that could put somebody at high risk. One might be personal history factors. So that could be things like breast density on mammogram. It could be family history factors, having a mother, sister, aunt, grandmother. And then genetic factors as well. So, things like BRCA1and BRCA2 are genes that can increase the breast cancer risk, like Vera said, to 50, 60, 70%.
Heather Simonsen: On our last episode, we discussed how Huntsman Cancer Institute's own Utah Population Database played a pivotal role in discovering those genes. If you haven't listened, go check it out.
Whitney Maxwell: And so, we actually know everybody has BRCA1 as a gene in our body. What we're telling women when they get a positive genetic test result, that means their gene has a marker that's essentially breaking the gene, it's causing it not to work properly, and those genes are supposed to be protecting our bodies from getting cancer. And so if they're not working as well, then that leads to a higher cancer risk.
Role of Genetic Testing and Counseling (03:55)
Heather Simonsen: Testing for genes like BRCA1 and BRCA2 is an important step in figuring out your personal cancer risk. Vera, Whitney, and the other experts at the Breast Cancer Risk Clinic will help you understand your risk and take you through your options.
Whitney Maxwell: So, our high-risk breast clinic at Huntsman has been around for many years, 15, maybe more. And it includes, actually, now two medical oncologists. There are multiple genetic counselors in that clinic. There's a nurse, there are MAs, there is a social worker. So, it's really a group of us who treat all aspects of these high risk genetic or other markers, and we see people in clinic anywhere from every six months to once a year. We offer imaging, we offer risk reduction discussions, lifestyle discussions, and just a wide variety of options for women at increased risk.
Vera Kazakova: Just to add to what Whitney mentioned. For example, for us, we’re very close working colleagues. We see all of people who come for their initial visit together, and we really developed a way how we can make the visit the most helpful for people. Usually, again, Whitney starts with making sure that we clarify all of the family history aspects discuss in detail what the genetic testing means. After that, we move toward again, coming up with a specific plan, checking what they do, what they plan for their family, what they enjoy, and then coming up with a plan based on that. And we're also lucky to have many other professionals that may not be directly with us in the clinic, but we work very closely together, including in breast surgeons, plastic surgeons, menopausal specialists, just to name a few.
Whitney Maxwell: Yeah, I want to maybe just point out one thing. Usually, women who are coming to our high-risk breast cancer clinic have already had genetic testing. And either it was normal and they still have a strong family history of breast cancer, or it was positive, and they have a genetic marker increasing their risk, or maybe there's some sort of biopsy increasing their risk. But usually, a first step would be meet with a genetic counselor, review that get genetic testing, and then, if needed, come into the high-risk breast clinic.
Heather Simonsen: And then say you get the genetic counseling. What could it reveal?
Whitney Maxwell: Yeah, great question. So, we order multigene panels these days, so looking anywhere from 30 to 100 different genes on this blood or saliva test, and we're looking at actually a lot of different cancer risk genes. That's breast cancer, as Vera said, ovarian, prostate, pancreatic, melanoma. So, there is the potential that we find information on any of those cancer risks. There are about 20 different breast cancer genes we know of these days, BRCA1 and 2 are the highest risk. But they really vary what types of cancers they're related to, and what level of risk we quote for that. So, for BRCA1 as our example we've been using, there is about a 50 to 70% risk of breast cancer for women. There's anywhere from a 40 to a 60% risk of ovarian cancer across the lifetime. For men, there's around a 20 maybe higher risk for prostate cancer across their lifetime but also can be a more aggressive form of prostate cancer, so we definitely don't want to ignore that for men. And then there also can be a pancreatic cancer risk in some families with BRCA1 tends to be a little bit lower, like a 5% or so across the lifetime.
Heather Simonsen: And let's say someone gets tested and they find that they have the BRCA1 gene. What are their options?
Vera Kazakova: I would say that learning that you carry a genetic mutation predisposing you to cancer, and especially BRCA1 mutation is a big deal. And it's completely normal for that to bring up a lot of emotions and practical questions. It can significantly affect not only health decisions, but sometimes more of like life decisions, financial decisions for people and in the ideal situation, the person should not be going alone through this. That's why it's so important if a person learns about being predisposed to cancer due to, for example, BRCA1 mutation, to talk to an expert. A genetic counselor usually contacts a person undergoing genetic testing to discuss the results and provide the initial information on screening strategies and potential prevention options and frequently schedule a visit in our high-risk clinic.
Heather Simonsen: Yeah, what are those calls like? And, I mean, how do you prepare?
Whitney Maxwell: Yeah. So, when someone gets genetic testing, we do give them some upfront information. First of all, it takes about three or four weeks to get test results back, so you will be waiting a little bit until we get those results. And I'll just say most people test normal on these things, greater than 90% of people have no genetic markers found. So most likely, I'm calling and saying, everything looks normal. Now let's talk about your family history, and if anything needs to be adjusted in your screening. But for those that have a positive genetic result, meaning they have a marker increasing their cancer risk, then I'm talking to them about, what is the marker, what types of cancers that's related to, what should they be doing differently. I'm making a referral to an appropriate follow up clinic, and honestly, a lot of it is talking about their reactions to that test result. You know, how are you feeling in the moment? Maybe we need a follow up conversation after they've digested it a little bit, because, as you know, you get a lot of information up front, and two hours later you've forgotten it because you were overwhelmed, right? And so, that might need to be a conversation that's ongoing. It can be nerve wracking, but hat's my job as a genetic counselor, and Vera's job. We're here to help reduce that anxiety a little bit.
Vera Kazakova: I think that we do have very emotional first visits. So people come with their feelings, with their sometimes frustration, sadness, memories, sometimes people cry during these visits, which is very normal, like, kind of that's a very safe space to kind of get that feelings out. And I would say that most of the time, by the end of the visit, people feel much better because now they have knowledge, they have some specific information, and they have a plan, and it usually helps.
Personalized Risk Assessment and Screening Planning (10:34)
Heather Simonsen: And let's say someone gets tested and they find that they have the BRCA one gene, what are their options?
Vera Kazakova: During the visit in high risk clinic, we started with kind of taking a step back and reviewing family history, individual history, just learning about person's life and their priorities, their beliefs, their plans in life. And then we go into describing their individual risks, their individual risks in five years, 10 years, lifetime. And then creating a plan for screening and prevention. And I think that it's very important to also, again, put the risk into the context, because, for example, if a 25-year-old woman comes for a visit, she just learned that she has a BRCA1 mutation. Of course, her lifetime risk is very high. It may be again, as high as 80% sometimes, but at the same time, it's still possible that her five-year risk is about 2%.
Heather Simonsen: So, you can tell people like the five-year risk versus the lifetime risk? You can break it down that...wow, I guess they didn't know that. I think that's really cool. And how do you do that?
Vera Kazakova: During the visits? We usually utilize cancer risk models. One frequently we use is called CanRisk, and it allows us to account for several genetic mutations, including BRCA1 and quite a few more. And when we put multiple parameters into that one, and it includes, again, the mutation, the gynecological history, like the initial menstrual period, the age of the first birth, use of certain medication, like hormone replacement therapy. And also, of course, it asks a lot of questions about the family history and ages of the diagnosis of different cancers, especially some lifestyle factors, as well as breast density for people who already had their mammograms. And it helps to calculate all of that information and give us specifics about the risk of breast cancer and ovarian cancer in the next five years, in the next 10 years, and the next...in the lifetime. It is very helpful to put it into perspective, and again, sometimes for especially very young people who have all their life ahead of them and many plans and decisions to make. I think that it's important to see it in perspective.
Whitney Maxwell: Yeah, and I think I just want to add to that. Sometimes the numbers don't match up with how you feel about your breast cancer risk, right? So, someone might come in, and we're telling them they're at a 20% risk, but they've just watched a relative go through breast cancer, and so it's really at the forefront of their mind. And you might feel like that is inevitably in my fate. Or somebody might come in and they have a 70% risk, but they've never really been in this world. They've never seen someone diagnosed, and so it's very hard to equate that to your actual life. And so that's part of our job, is getting the numbers and the feeling around cancer to line up and create a plan around that.
Heather Simonsen: Yeah, in that this isn't something to be afraid of, that that knowledge can be power and help you plan your life, right?
Vera Kazakova: I would say that it's just the interventions that we offer change, and of course, again, it's, it's very individualized discussion. But for example, for a 25-year-old with BRCA1 mutation, we would start with breast awareness, breast exams, like physical exams during the clinic visit. And breast MRI is usually what we recommend to begin with. And then when the woman gets older, around age 30, we also talk about adding mammograms, so then it's screening MRI, six months later. Mammograms, six months later, MRI, they're alternating, increasing the chance of early detection of the cancer if it happens. And we know that, for example, for people with BRCA1 mutation, actually, there is improvement of survival for adding breast MRI, there's less chance of unfortunately passing away from breast cancer if a person starts doing MRI. So that's why it's very important. We also always discuss with them preventive strategies, because some women may want to consider reducing their risk rather than focusing on screening, right? Because the screening is not going to do anything about changing the risk. So, for some women, it may be the right choice to go with the intervention that reduce the risk. And some people want to do what's called risk reducing mastectomy, when they remove their breast, and this really lowers their chance of being diagnosed with breast cancer during their lifetime. Plus, if their breast tissue is removed, they don't have to do this annual mammograms and MRIs and again, for some people, it may be the right choice.
Heather Simonsen: How do you have that conversation with women? Because that that can seem really, really extreme and yet an important conversation to have.
Vera Kazakova: It's an option. It's not something that we ever strongly recommend, I would say, in the vast majority of situations. And alternative to that is we recommend screening, right? So that mammogram and MRI for people who are at very high risk, usually we start thinking about the surgery for people who are at very high risk. So again, I'm saying, I'm talking about the, what's called, sometimes high, high penetrance mutations. So, mutations that really drive the risk up. Women, more or less, tell us even like to begin with, even before we bring that subject up, that they are very interested in that because, for example, they saw their loved ones go through breast cancer diagnosis. It was extremely hard. They had to, you know, support them through this, or they experienced being, you know, a child, and it's a very hard topic.
And now every screening would bring so many emotions, memories and hard feelings, and so sometimes it just feels to them right, like a right choice. But I would say that for everyone who could potentially benefit from it, so people who have increased risk, especially quite significantly increased risk, or people who are very interested in this, we at least recommend to meet with breast surgeon and plastic surgeon to discuss their options. Because, again, as we talked, we do believe that knowledge is power, and I think that it's very important to have that personal discussion, because what somebody has as their experience in the family or share a friend or shared in the internet may be very different from the person's specific story experience and thoughts about that.
Surgical Options and Family Planning (17:14)
Whitney Maxwell: And I might be able to add just some context there too, maybe put some numbers to the risk reduction. So, it does sound like an extreme option for a lot of people, like, wow, a big surgery. Why would I do something like that? But BRCA1, as an example, has about a 60, 70% risk of breast cancer. Doing a mastectomy can reduce that risk by 90% sometimes more. And so now we're telling you, after that surgery, your risk is something like five or 6% over your whole lifetime, which is actually lower than general population. You no longer need to go for breast MRI and mammogram, and you just have less of that cancer anxiety potentially throughout your lifetime. So, it's almost like you're investing a really...it's a really big investment up front and then less so across your lifetime. Because now you've maximally reduced that risk. But again, it's not for everybody, but it is an option for those individuals at high risk. We usually wait till someone's 40% or 50% or higher over their lifetime before we consider that type of surgery.
Heather Simonsen: And for some, the peace of mind is worth it. It sounds like,
Whitney Maxwell: Yeah, it can give women enormous peace of mind that they're coming in for a mammogram and an MRI every six months. Now you're thinking about that risk every six months and potentially getting biopsies and getting fear that you might have breast cancer this time. And so some women, as Vera said, like they come in knowing I don't want to deal with this for the rest of my life, and I would like something to help give me some reduction of my anxiety. And not that we're doing surgery to reduce anxiety, but that is a side effect of that, that we're lowering your cancer risk, and now you don't have to think quite as much about it across your life.
Heather Simonsen: And again, it's talking to your team, and that you're, you're trained to have these informed discussions. And I get the sense you don't... it's not you're telling them what to do. It's offering choices that fit into their lifestyle, right?
Whitney Maxwell: Exactly. We've had families where maybe they have four daughters coming in and they all have BRCA1, and each one of those girls might make a different decision. Somebody might do a mastectomy immediately. Someone may want to have their children first and breastfeed, and then they'll consider a mastectomy. Another may want to image for the rest of their life. And those are all reasonable options, and they fit just individually into those women's lives.
Heather Simonsen: But it sounds like it's not like you just email the results and that's it, and you're stuck with it. This is a process, right? And there are resources. Just wondering, if you can talk about the numerous resources there are available.
Vera Kazakova: There are definitely multiple resources that are available. The resources kind of change during the person's lifetime. And I think that important part that there are more and more resources, there is more research coming out. We provide information for financial counselors to help address the costs. Then we always provide information on some support groups. Another thing, very important topic, especially for younger women, is family planning. And we usually share resources about reproductive technologies, family planning, because some people may wonder how it affects their fertility, or what can they do to not pass the mutation to their child, right? And that's a personal choice. Absolutely people can decide to have children in a natural way, and there is about a 50% chance with one parent affected to pass that mutation to a child. But some people want to absolutely minimize that risk, so they want to use assisted reproductive technologies to achieve this.
Heather Simonsen: So, if you wanted to do like in vitro and to get rid of the risk and only implant embryos that don't have—
Vera Kazakova: That's exactly right. So, some people choose to do that. Again, it's absolutely not a recommendation, but it's an option for people to consider. In addition to this, I think that again, from family planning perspective, especially for people with BRCA mutation, we do recommend them to remove their ovaries for BRCA1 starting from around age 35 to 40. And that's, again, unfortunately, lifesaving intervention, because we don't have good screening for ovarian cancer. So, it's very young. It is a very young age. And I think that knowing early that that may be a recommendation is helpful, because, again, it helps to just plan your life. Think what additional technologies you may want to utilize if you really want to postpone, you know, the start of having children, but at the same time, minimize your risks of ovarian cancer.
Heather Simonsen: Yeah, and I'm just thinking of, you know, someone who might be like oh, I'd rather not know. Can you speak to that person? I mean, it's better to know, right?
Whitney Maxwell: Yeah, I 100% think it's better to know, but that's why I'm in this career. A lot of women feel initial fear at getting that test result of, oh, my goodness, I'm at high risk. What do I do about it? But the reason we offer this genetic testing is because it can detect, we can detect cancer early. We can help save women's lives through some of these preventative measures, and we can make that woman's story different than maybe their mom who had breast cancer, maybe their grandma who passed from ovarian cancer. So that's our goal, is that we can now equip you with knowledge that you can take into your screening practices or even your lifestyle. You know, most women don't even think about breast screening until they hit age 40. But for women who are higher risk, maybe they're thinking about being active or reducing alcohol use, or keeping a healthy weight, or just lessening exposure to hormones or other environmental exposures. And that's going to change the course of their life, as compared to family members who they've seen gone through some awful situations, unfortunately.
Lifestyle Factors and Long-Term Wellness (23:17)
Heather Simonsen: Do we have data that supports that, that you know, being more active. You mentioned maintaining a healthy weight, you know, making sure you're getting those fruits and vegetables. I mean, is there data to support that?
Whitney Maxwell: There is, there is a lot of data around that, actually, so some of the biggest factors that we know of, so I mentioned alcohol use. Actually, this may or may not be a popular recommendation in clinic, because it works differently for everyone's lives. But alcohol is related to breast cancer, and that is by the glass, so the more you drink, the higher your breast cancer risk would be. So, we really recommend just you know, whatever you can do to cut down that's going to help reduce your breast cancer risk over time. We also know that staying active, so the national guideline is 150 minutes a week of some sort of cardiovascular exercise can reduce breast cancer risk, especially in women who are after menopause, or have gone through menopause, and then maintaining a healthy weight is also important, separately from exercise. So even if you I mean, exercise is great, even if you never lose a pound. That's going to help reduce your risk for cancer, as well as things like heart disease, but maintaining a healthy weight also is important, again, especially after menopause, to reduce breast cancer risk.
Heather Simonsen: I don't think a lot of people realize the alcohol risk and that it's like per glass, right? Can you speak to that a little bit more?
Whitney Maxwell: Yeah, it's really any kind of alcohol and any use. So, one glass of wine or glass of liquor or beer, any of that, really. We recommend...you know, obviously binge drinking is not great, so I think staying under three glasses a week is. The recommendation right now. But, you know, teetotaling, I guess, not drinking at all. If you want to do the absolute most for your breast cancer risk, that's the best option, and then people will find what works for them in between that.
Vera Kazakova: Totally agree on this. I think that that's usually our recommendation. Of course, we need to meet people where they are and what works best for their lifestyle and their preferences. But in general, we have to share data that so far, there is no safe amount of alcohol. There was not a single study that showed okay, if you're drinking this amount, you are totally safe. There is no cancer risk increased. But at the same time, there is dose dependence so we know that the more alcohol person gets, the higher the chances of several cancers, not only breast cancer. So ,we more or less advise to try to find that sweet spot when, again, you're doing what's right for your lifestyle, but at the same time you maximizing the risk reduction as well.
Heather Simonsen: You know, I'm just thinking of the old adage, an ounce of prevention is worth a pound of cure, right? Can you talk about the value of really considering that and making sure that that you're putting into your life healthy choices that put you at lower risk?
Whitney Maxwell: Yeah, I want to maybe just point out one thing we have when people come in, we really like to make a personalized screening and risk reduction plan. And really the only thing we say that they cannot choose is to do nothing. You know, we don't want women to come in and then never screen or never do anything to reduce their risk. But then once they come in, we have a number of options, like imaging, surgeries, medications. I'll let Vera talk a little bit more about those, but they've really done wonders to reduce the diagnoses and to save women's lives that have these high-risk markers.
Vera Kazakova: Yes, I definitely agree, and I think that it's the most important is to find the right approach that fits a person's life and allows them to enjoy their life. And the life never should be just about cancer risk, because that's impossible, right? Especially, right, if we imagine somebody who learns about their cancer risk in their 20s, 30s, 40s, 50s, 60s, and they have so many more years to live and enjoy, they should be able to enjoy. And we try to meet them there and help them to again, come up with a plan that works, and it can be very different. Again, of course, there are multiple different interventions. Some of them we recommend stronger because they are the most effective and the most likely to prolong person's life. Some interventions are optional because there's less, I would say less benefit from them, right? They can decrease the chances of diagnosis of cancer, but not necessarily help to prolong life. And there's always a balance that we try to find.
Heather Simonsen: And really, like you said, it's not like completely changing who you are, or like starting to run marathons, if you hate running. It's, it is small, incremental changes that fit into your life that are a part of a joyful life, a joyful, long and healthy life is the goal.
Vera Kazakova: That's, that's exactly the goal. Yes, we want people to be healthy and happy.
Heather Simonsen: I love it.
Whitney Maxwell: And if you think about it, if you, if you know about this information at 25 like we're saying, come in, do a risk assessment. You have many years that you can kind of start those healthy lifestyle, or changes to your diet, or whatever it might be, in just small increments and over your life, that's going to add up, and that will be a benefit to you to reduce your cancer risk.
Heather Simonsen: Thank you to Dr Vera Kazakova and Whitney Maxwell for joining us today. To our dedicated listeners, we're so thankful for your support, for additional resources. Be sure to check out our show notes, and if you want to stay connected with us and be the first to know about upcoming episodes. Subscribe on your favorite podcast platform. Please log on to Apple podcasts and leave us a five-star review. This helps other people like you find this podcast. If you have questions, comments, suggestions for future episodes or a personal story you'd like to share, please visit our website, Huntsman cancer.org This episode is produced by Nina Earnest. Theme music composed by Mix at Six studios. Additional music from Artlist. I'm your host. Heather Simonsen, a special thanks to the Huntsman Cancer Institute Communications and Public Affairs team.
Heather Simonsen: And really, like you said, it's not like completely changing who you are, or like starting to run marathons, if you hate running. It's, it is small, incremental changes that fit into your life that are a part