Next Gen in 10: Exploring Preventive Care for BRCA Mutation Carriers

🎙️ New on the GOSH Podcast! ✨ In our very first Next Gen in 10 episode, we’re spotlighting Sabrina, an MSc candidate at in the WACH UBC program. Her research focuses on preventive care for BRCA mutation carriers—a group at higher risk for breast and ovarian cancer. Under the mentorship of Dr. Gillian Hanley, Sabrina is exploring preventative interventions that can help reduce cancer risk and improve outcomes for hereditary high-risk groups. Tune in to hear about the next generation of research shaping the future of gynecologic cancer prevention.

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Transcript

00:00:02 Intro 

Thanks for listening to the GOSH podcast—The Gynecologic Oncology Sharing Hub. We share real, evidence-based discussions on gynecologic cancers, featuring stories from patients, survivors, researchers, and clinicians. Our podcast is produced and recorded on traditional unceded territories of the Musqueam, Squamish, and Tsleil-Waututh Nations. It is produced by the Gynecologic Cancer Initiative, a BC-wide effort to advance research and care for gynecologic cancers.  

00:00:36 Sabrina 

Hi everyone. My name is Sabine and I would like to welcome you all to a new segment on the Gosh podcast called Next Gen in 10 where we feature GCI trainee research. For our first episode for the segment, we are joined by Sabrina, who is in her Master of Science as a candidate in the women and Children's Health Sciences program stream at UBC. Under the mentorship of Dr. Gillian Hanley, her research focuses on hereditary high risk groups for gynecologic cancers, and she specifically focuses on the use of preventative interventions among BRCA mutation carriers to reduce the risks of ovarian and breast cancer. Welcome, Sabrina. 

00:01:13 Sabrina 

Thanks for having me. 

00:01:15 Sabine 

Yeah, we're really excited to have you as our first guest on this segment. So can you start off by giving us some background on your research topic as well as the gap your research aims to fill? 

00:01:26 Sabrina 

For sure. So, sort of like an overall gap or aim we're trying to fill is that we have data on intervention use within the BRCA population, but now it's quite old, like over a decade old. So the goal is to sort of update and improve our understanding of what different interventions people with a BRCA mutation are using to lower their risk of breast and ovarian cancer, and that's a lot of complex words, but it can be nice to understand what a BRAC mutation actually is in order to understand my research. So I'll tell you a bit about that. This is like very basic, you know, molecular biology necessary to understand; but essentially BRCA 1 and 2, they're two different genes and they code for proteins, which you can kind of think of as little machines that operate inside your cells and they help fix any damage. And if you are born with a BRCA mutation one of those machines isn't working properly, so sometimes you can get damage to your DNA in your cells and then that doesn't get fixed and then damaged cells can accumulate and then that can turn into cancer. So people who are born with a BRCA mutation essentially are born with an increased risk of a couple of different cancers, including breast and ovarian cancer. So because people are born with these increased risks, they're often offered preventative interventions, and there's lots of different interventions that people can consider. But it's essentially because you know your risk is so high you want to consider what you can do to reduce your risk before you actually get cancer. So some of those options, for example, include, for breast cancer risk reduction, there's a couple of medications you could take to reduce your risk, or you can opt to have your breasts surgically removed with or without reconstruction, and then you can also just have screening or enhanced screening then the general population would be offered. And then for ovarian cancer, the gold standard would be to have your fallopian tubes and ovaries removed, and that's normally recommended between the ages of 35 and 45. But there's also less invasive options, such as using the oral pill or the birth control pill, and that can reduce your ovarian cancer risk by about 50% if you use it for over 5 years. So there are some less invasive options like that and yeah. So those are just a couple of the interventions. There's lots of different ones. So our goal is to essentially just summarize the use of different interventions among BRCA carriers in BC and try to get an updated estimate of what different interventions people are using. 

00:04:10 Sabine 

That's really cool. And so you're kind of using newer data as you were previously using older data. So that's really interesting to me as a data scientist in training and also in preventative research. So I think your project is really cool and thank you for the excellent explanation on the mutation for those who are not cellular molecular biologists are familiar with it. And so to address this, what specifically are your research aims or your question that you want to kind of address? 

00:04:43 Sabrina 

So my overarching question is what risk reducing interventions or measures are female individuals specifically with BRCA mutations using to reduce their risk? and you can kind of break that down into a main objective, which is to summarize the use of different interventions and that includes both, like lots of those interventions that I mentioned. Unfortunately, we don't have screening data, so that won't be part of my project. But we are going to look at the use of the risk reducing salpingo oophorectomy, which is just a big word saying removing your floating tubes and ovaries and then some people also opt to have their uterus or removed at that same time, which is called a hysterectomy. So summarizing the rates of those two surgeries as well as summarizing rates of a newer surgery, which is opting to have just your fallopian tubes removed and then delaying the removal of your ovaries later because that can push off premature menopause, which can happen immediately when you remove your ovaries, and then also looking at mastectomy use so that surgical option for breast cancer prevention and also looking at oral contraceptive use among all these carriers and then our second objective, which is kind of like hidden underneath that is also to look at hormone replacement therapy use and so hormone replacement therapy is recommended if you have your ovaries removed prematurely because again you go into immediate menopause, which does come with some long term health consequences. So we're trying to look at the rates of use of hormone replacement therapy among the carriers after they have their ovaries removed. So that's kind of a second objective of nestled amongst the different intervention. 

00:06:31 Sabine 

Very cool. And just for our viewers, who don't really know a lot about hormone replacement therapy or maybe the fact that there are different types, is there specific type that you're looking at, like combined, or just for you just to know? 

00:06:47 Sabrina 

Yeah. So if you have your uterus removed at the time of your other surgeries, which some people do, so if you have a hysterectomy, then can opt to have estrogen only hormone replacement therapy as a BRCA carrier, which some people do prefer, so some people choose to have their ovaries and uterus removed in intentionally in order to be able to have estrogen. Only hormone replacement therapy. But we are going to look at all of them because lots of people don't have their uterus removed. So we're going to look at all of the different types of hormone replacement therapy. 

00:07:20 Sabine 

Yeah. And that's really important because a lot of data sometimes only has combined and then we can't look at all the types. So that's kind of why I ask kind of just so our audience knows the great work that you're doing. And so to address these objectives and your questions, how will you go about this and what are your methods? 

00:07:38 Sabrina 

OK. Yeah. So my research makes use of a retrospective cohort study design and that's just a lot of fancy words to me that we're going to look back at People's medical records from the past. And it's all anonymized data now, but we can look and see for all the people living in BC that have a BRCA mutation. What different preventative options they were choosing to use, whether that's surgery or medications. And we have all the data for all the people in the population of BC, because there's only one centralized spot for getting BRCA tests in BC, so it's easier for us to access all the data, and they've anonymized it all for us, and then we can just look at the numbers of use of different interventions and also at the ages, people are choosing to have the interventions. And if there's any changes in trends of use of intervention. So for example, mastectomy wasn't used a ton in the past, but we are curious if its use is increasing nowadays with just like different changes in social norms and whatnot, that might not be unsurprising, but it would be. It's cool to look at trends over time. 

00:08:47 Sabine 

What is significant about this work? 

00:08:49 Sabrina 

I think, I mean, there's a couple of different reasons it's quite important. One is that we don't have up-to-date numbers. So it's always good to have more current numbers and that sort of allows us to assess the use of different interventions and that could go one of two ways. It could show that we are using these interventions, they are being used, people are getting their genetic testing knowing they have high risk and then choosing preventative options to reduce their risk, which would be great. And that would really support expansion of genetic testing and offering it to more people if we can prove that people do opt to undergo prevention with the information. But then there's also the other flip side, where we might see that interventions are being underused and that's also important data, because that would support the idea that we need more support or improved counseling or more resources for these carriers to make sure they have all of the information they need to make informed decisions. So either way, it kind of gives us good information to know where people are at and where we need to put more resources in. 

00:10:00 Sabine 

Absolutely, I agree. And what made you interested in studying how people with BRCA manage their cancer risk in first? 

00:10:08 Sabrina 

Good question. I actually have my in my family the BRCA 2 mutation runs and if you want to hear more about my mom's story, you can listen to the last GOSH podcast episode where she explains her journey with genetic testing and prevention. But as a kid I got to watch her go through her different prevention options and wrestle with all of that and it can be quite like a burden on the patient. So I was really interested in getting involved in the research to try and help other patients going forward, have access to all of the information they possibly can and make sure that they are supported in their decision making because even something like this. Not all patients will opt to read research, but some patients like potentially patients like myself who like research, it can be nice to see the data and be like, oh, other people are opting to have mastectomy or other people aren't opting to use medications. Why might that be like, are there side effects and that might encourage patients to have conversations with their physicians and think about, you know, what options really are best for themselves and that can be helpful or encouraged, and that conversation can be encouraged by seeing what other people are doing. 

00:11:24 Sabine 

Absolutely. And I encourage everyone to listen to the podcast episode with your mom, that you were a host on. It was excellent, and I learned a lot. And lastly, if you could say only one thing to everyone who will listen to the podcast about your field of research, what would you want to tell them? 

00:11:42 Sabrina 

Hard to put into like one thing, but probably I would say prevention is the best option when we think about ovarian cancer. We don't have an effective screening method, so really thinking about prevention and what your risk is before you ever get it is really important, even if you're not someone with high risk who might have like their ovaries and Florian tubes removed, or who might have to think about this all the time, there are a lot of options for the general population to reduce your risk like opportunistic salpingectomy, or other things like that. But ovarian cancer sucks, so I really, really recommend thinking about your risk and what you can do to prevent it before it ever happens to you. 

00:12:28 Sabine 

Absolutely. And that's why preventative research is so important. So thank you, Sabrina, for coming on here and sharing what you're doing research on. 

00:12:37 Sabrina 

Thank you. Thank you for having me and thanks for creating this platform for training. 

00:12:43 Outro 

Thanks for joining us on the Gosh podcast to learn more about the Gynecologic Cancer initiative and our podcast. Make sure to check out our website at guiding cancer initiative.ca.