VCU Health
Screening and prevention strategies for high-risk breast cancer
For most women, getting annual mammograms starting at age 40 years is one of the best ways to fight breast cancer. However, some women are at high risk based on a personal or family history of cancer or positive genetic test results.
Patricia Bragg, surgical oncologist, and Elizabeth Monast, genetic counselor, explain how the High-Risk Breast Clinic at VCU Massey Cancer Center and VCU Health combines expert genetic risk assessment, state-of-the-art breast imaging and access to comprehensive cancer prevention and treatment for women at high risk of breast cancer.
Hello and welcome to tonight's VCU Health Virtual Seminar on prevention and treatment for women at high risk of breast cancer. My name is Blake Belden and I'm a member of the marketing and communications team at VCU Massey Cancer Center. Tonight, we are joined by Patty Bragg a, nurse practitioner and Elizabeth Monast, a genetic counselor. Uh. as they explain how the high-risk breast clinic at Massey and VCU Health combines expert genetic risk assessment state-of-the-art breast image and access to comprehensive cancer prevention and treatment options for women at high risk of breast cancer. Before we begin, I would just like to make note that we'll hold any questions until the end but please feel free to drop any questions you may have in the Facebook comment section throughout the event and we'll address them during the Q&A portion at the end. Patty Bragg is a nurse practitioner at Massey and VCU Health where she specializes in breast health both in patients who are at a high risk of breast cancer as well as benign patients. She graduated with a bachelor's degree from the VCU School of Nursing and has worked exclusively at VCU since. In addition, she also received received received her masters in nursing and is a certified family nurse practitioner. Elizabeth Monast is a licensed board-certified genetic counselor who provides counseling to patients in the Familial Cancer Clinic and general pediatrics, genetics clinic at Massey and VCU Health. She received her BS in Biological sciences and psychology from Virginia Tech and her MS in genetic counseling from LIU Post. Elizabeth is also a clinical supervisor for the VCU genetic counseling graduate program. Thank you both for joining us this evening. Uh Patty, I will now turn the show over to you. Good evening, everyone. Thanks for joining us. I I actually work through the Department of Surgical Oncology and at this point, I am taking the majority of my patients are Breast Cancer patients. Um we added on this high-risk breast clinic couple years ago and it's been growing ever since. Next slide, So, women are referred to our High Risk Breast Cancer well, High Risk Breast Clinic for a number of reasons and we get referrals from a lot of patients primary cares that feel like they're at risk. Sometimes, they're OBGYNs are referring them. Um sometimes, I'm getting them from genetic s, patients who have been referred there first. I also get referrals from medical oncologist as well as as well as the surgeons that I work with. So, basically, I started out in surgical oncology taking care of a variety of cancer patients and we've narrowed it down to breast cancer patients and the high-risk breast clinic has been added as we've seen a need and as the guidelines continue to change and address that for women. Next slide, So, what really makes someone high risk and why would someone want to come to a high-risk breast clinic? I think this was one of the questions that we had we had in advance. So, women are referred to me who have a greater than 20% risk for breast cancer and this is a lifetime risk for breast cancer. This can be based on genetic testing or other risk assessment. When folks come to my clinic, they initially are given either a tablet to complete some data points. Uh we are now using a program called Cancer IQ which is really made my job a lot easier. I used to have to enter a lot of the data by hand. Um that's the only way I knew how to do it and a lot of times, I would have to call patients later and let them know where their risk for breast cancer would fall. So, today, we have this cancer IQ program that actually puts people into a sort of a database and they are either sent a link to complete the data before their appointment or sometimes we text it to them. Um we can send it to them in the portal but overall, I think we're using the tablet in the clinic most often and it just takes about five to 10 minutes to enter the data and I'll go through some of those points as well. So, that's really helpful and I think it actually has generated a lot of interest in some other areas. Um Doctor Susan Hong has a survivorship clinic at VCU Massey and she introduced the program And I'm just trying to introduce it to as many folks as I can that are appropriate. So, when we do the risk calculation on this Cancer IQ risk assessment tool. If women have a greater than twenty percent lifetime risk of breast cancer, they are eligible for certain additional screenings. They may also be eligible for genetic testing or they might be eligible for a medication. Um either way, if they're high risk, I offer to follow them on a regular basis and perform breast exams and talk to them about ways to reduce their risk. Next slide, So, some of the risk factors that are included on this assessment that really factor in. I mean, all of them factor into the the score, you know, the the risk assessment. Um age and race are factors that would affect the score Um patients who have had a history of lymphoma. Um usually, women at an earlier age are treated with chest irradiation and this radiation of the chest really puts them at high risk for breast cancer Um a lot of times there are no other ways around that and so, they're referred to our clinic to follow and offer them additional screening and guidance. So, family history is definitely a risk factor that puts women at risk for breast cancer. Uh it really depends on what degree of family. It could be first, second, or third-degree relatives. It also depends on the ages that the family members are diagnosed with breast cancer and whether or not they've had breast cancer in both breasts. Breast density is determined on the mammogram and they're basically four different levels of density. So, extreme density is what puts women at risk for the most part. Um on the opposite of that would be entirely fatty breast which when we look at imaging Um. you can see right through the breast and it's a lot easier to detect abnormalities but you can imagine that women under 30 have a lot of them have extremely dense breast because their breasts are young and they're dense and it's like a total white out when you look at the the mammograms and so women with high density or extreme density as they call it are at particular risk. Breast biopsy are another thing that may put people at risk for breast cancer Um and that's not based on what the finding shows. It's based on actually doing the biopsies. A tipia is something that we see in pathology. Um typically women have had a biopsy. They've had a breast mammogra or they've had an MRI. That picked up an abnormality. And that abnormality is an indication for a biopsy and the biopsy comes back with a tipia for instance. Um there's several types of atipia and I'll go through that in a little bit but basically, anyone with this apia has a high-risk lesion, we consider it, that puts them at risk for for an increase, risk of a lifetime of breast cancer, lifetime risk. So, also, 101 starts her period and also, when she reach is menopause. So, the shorter duration of, you know, estrogen floating around in a woman's body kind of reduces her risk for breast cancer Um also, the age at first pregnancy. Um this is considered because again, that is a period of a woman's life that they don't have a lot of estrogen floating around. Um these are all factors that are considered and weighed heavily in the risk assessment tool. Next slide, So, this is a little pie chart that just represents the the Breast Cancer s that we see and I know that Elizabeth is gonna go into this in a little more detail but most of the cancers that we speak see are sporadic. Um they're not associated with any particular genetic mutation. Um they just happen in women and and typically in an older age, familial and hereditary cancers, take up rest but the hereditary cancers are actually smaller than a lot of people think given the the wide range of folks that we see. So, Elizabeth will speak to that a little more specifically. Next slide, Next. So, I'm gonna go over the particular risk for Breast Cancer and what we might recommend So, women that have a genetic mutation. Now, there are there are many mutations out there now and they all have a degree of risk Um many people have heard about the bracogenes, the braca one and two, it's BRCA which looks like Breast Cancer but it's a braca mutation and both of is genetic mutations put women at a particularly high risk for breast cancer and men as well. Um a lot of times, we will see a pattern of women that have had a family history of breast cancer in younger women and that's a real alert for sending them for genetic testing. Also, women that have had more than one breast cancer or at a at a young age. Um so, these are reasons that I refer people to genetic s. Um the lifetime risk, like I said before, this can be evaluated when they come and it depends on a lot of those things that we talked about before. So, we can start screening mammograms as early as age thirty because like I said before, anytime before that, the breasts are extremely dense and it makes it really difficult to read. We can also start MRIs as is 25 years of age. Um I have a couple of women that have started really early because they have heard or they were referred for a particular risk. The patients that have had breast cancer and also have extremely dense breasts. Are also, we feel at a higher risk for breast cancer, recurrence. any age of breast cancer is certainly at risk for recurrence but when we see women that were diagnosed at an earlier age with breast cancer or they've had breast cancer with particularly dense breasts. That's also an indication for additional screening. Now, a lot of people ask about mammograms and you know, twoD, 3D Most of the mammograms I would say are being done with 3D. I would imagine. I'd have to get specific statistics from our breast imaging colleagues but for the most part, the insurances are all paying for the 3D imaging now. It's it's I think it's rare that they're not. The MRIs would start for these patients that have a higher risk at whatever age they're diagnosed and you know, the MRIs are not for the faint of heart, I say, because they're a long procedure. They're noisy and they're not without risk Um have to have an IV put in and they have to have it scheduled and they're given a dose of gatalinium which is the contrast medium that they use. Um it lasts a long time and some women are not able to undergo MRIs for different reasons. Some people have allergies to the gadalinium contrast that they use. Next slide, Next, slide, please. There we go. So, back to the patients that have had some kind of lymphoma that required radiation of the chest. Um typically, before the age of 30, we would start getting mammograms on them early as early as 25 years of age even though they have density. Um or eight years after their therapy, whichever is later. Um MRIs, we would also start looking at starting nos about page twenty-five So, back to the atipia. Uh patients that have had a biopsy that showed a tipia, it could be either a typical ductal hyperplasia or a typical lobular hyperplasia or another type of atipia. Um these are all high-risk lesions. They're not Breast Cancer Um they just put women at a higher risk even though it's been surgically removed. They always follow up with me. the third is a little confusing. It's called lobular carcinoma in Cytu which sounds like cancer, lobular carcinoma. sounds like cancer. So, what we know is that this, in fact, is not a cancer. It is a high-risk lesion. It just has a really funky name that confuses people. So, all three of these, the ADH, the ALH, and the LCIS are all high-risk lesions that are found on biopsy and then further on excision. Those are all findings that would need to be surgically removed. Which is an a pretty simple procedure. Hey, Patty. Sorry to interrupt. I think you may have accidentally muted yourself. Where did I leave off? There you go. Um I think just since you started on the referrals page. Thank you. And then I got logged out. Like I thought I would. Thank you VCU So. referrals. Let me just wrap this up. Um I refer women to Doctor Maisie Ross to discuss risk These are in the form of a pill a day for five years. Um that patients can take. Um I also refer patients to genetic s. Um if that's indicated, I also, what Doctor Ross, have that conversation with patients. Um but if they are referred for risk reduction therapy, it's something that can reduce their risk by about one third or a half which is pretty significant. That's why we're making the referral. Um I also discussed Breast Awareness which you know, in the form of teaching them how to do breast exams properly and effectively we also discuss lifestyle modifications that patients can take a little more control over such as diet and exercise Um reducing or abstaining from alcohol and not smoking are always to reduce risk for breast cancer that have been proven. So, with that, before I get cut out again, I'll let Elizabeth take it from there. Thank you. Thank you, Patty for that. Very helpful presentation. I think it's always useful for patients to understand their more personalized risk scores based upon factors that you mentioned. So, that was very helpful. Thank you. Um again, my name is Elizabeth Monas. Thank you for having me this evening and I'd like to go over a little bit more detail regarding Hereditary Breast Cancer and how the genetic counseling process works. So, just a quick overview, we'll discuss some genetic s components that are important for for general understanding. Um we'll go through hereditary Breast cancer. I'll discuss the genetic counseling process us and then we'll leave things off with the genetic testing for Hereditary Breast Cancer Next. slide. Next slide. So I think it's helpful first of all to understand our DNA. Um DNA or deoxy ribonucleic acid is essentially our instruction manual. Tells ourselves what to do, when to do it, but most importantly, when not to do it. Um our genes are made up of DNA and we have approximately 20, 000 genes in every single microscopic microscopic cell in our body. So, pretty big instruction manual. Pretty tiny amount of space. And the genes control how every cell functions. Including how quickly it should grow and when it should divide and how long it lives. And it gets important to know that we all have BRCA1 and BRCA 2 genes or braca one and braca two genes. Men and women. We each have two copies. And in fact those are good genes to have. They are tumor suppressor genes and they're responsible for a normal cell growth and development and it's when we have a mutation in one of those genes that we run into problems and I'll discuss that here in just a moment. Next slide please. So, this is just kind of a schematic. Um you'll see here the cell and inside the cell is the nucleus and that contains our chromosomes and the chromosomes are how our DNA is packaged because DNA is extraordinarily long Um and so, in order to keep it condensed organized so that the cell can access it as it needs to for normal day-to-day functions. Um the genes are packaged onto chromosomes. We get half of our chromosomes from mom in the egg and we get half of our chromosomes from dad and the sperm and subsequently, we get half of our genetic makeup from mom and half of it from dad. So, we get essentially two copies of every single gene. We get a version from our mother and we get a version from our father. Next slide, So, mutations are the term that we use for alterations or genetic change that has abnormal or not in the typical arrangement that we would like for it to occur in. Um certain mutations can have been directly linked to an increased breast cancer risk and as Patty mentioned before, there are thousands of mutations that can exist in all of those genes that I just mentioned and additionally, there are genes that are being discovered and researched even to this current moment and we're still trying to figure out just exactly how they confer risk into what degree that risk is elevated. The important thing to understand about mutations and cancer is that mutations can be either one inherited like we discussed with hereditary breast cancer and they exist in an individual's germ line which means they received that mutation when either moms, egg, fertilized, or was fertilized by Dad's sperm or vice versa. Now, generally though, in the case of cancer, we're talking about somatic mutations which are mutations that occur over the course of a person's lifetime and can be the result of, you know, environmental exposures or other factors such as smoking, alcohol use, etcetera. Next slide please. So, this is just kind of a little picture demonstrating the differences between somatic mutations and germ line mutations. Again, with somatic mutations, they can occur in any tissue in the body. So, when you think about breast cancer, generally speaking, we're talking about a mutation that occurred within a cell, inside the breast tissue and then that mutation led to abnormal cell growth, that damaged cell so to speak, made copies of its damaged self and that ultimately led to that breast tumor that was detected either on a mammogram or self-breast exams or others modalities. Now, with gert line mutations though, you don't necessarily have any idea that you're carrying that mutation unless you have genetic testing. Um this journal line mutation is present in either the egg of a female or the sperm of the male and depending upon which version of that mutated gene is passed on, it will be then passed down to children with a 50% chance with each pregnancy and these are the types of mutations that we are doing the DNA analysis for when we talk about hereditary cancer syndromes. Next slide please. So, an important take home is that all Breast Cancer, all cancer is genetic and origin, meaning that a mutation has occurred that was resulted in abnormal cell growth but most breast cancer is not hereditary, meaning that the mutation that's led to the cancer development was in fact that person's germ line or what they inherited at the point of conception. Next slide. Next slide. So, just as Patty mentioned, here's a little distribution and she made a very good point and I think this is one thing that patients are often surprised to learn is that only about five to 10% of all breast cancer that's diagnosed as hereditary to our knowledge which means we can identify a mutation when we do this germ line testing. So, seventy percent of Breast Cancer Sporadic. Meaning, unfortunately, it just happens by chance and there are certainly things that can increase or decrease risk for developing breast cancer in one's lifetime And about 20% of Breast Cancer is familial. So, often we'll see patients, well, I have such a strong family history of of breast cancer. It must be inherited. Well, not necessarily. Um with familiar breast cancer just like things like diabetes or heart disease or Alzheimer can run and families. Cancer can do the same thing and that's because as families, we tend to have shared environmental risk factors, lifestyles, health behaviors, and then additionally, we have common genetic makeup and it's a combination of genetic s plus those other factors that can put families at higher or lower risk for diseases, cancer included. It's not because the cancer is a result of a gene mutation that's being passed down from parent to child. Next line So, I think that this is kinda helpful to keep in mind when we talk about hereditary breast cancer, I'll go into this in a little more detail in the next slides coming up. Um one of the red flags we look for in a clinical setting are early onset diagnosis and that can be explained by this theory called the two-hit hypothesis. So, sporadic cancer, let's just say for example, we're talking about Baraca one, okay? As I mentioned, we all have broccoli one mutations. So, I have a brocco one gene version that I got from my mom and her egg and a braca one jean version that I got from my dad and his sperm. So, if we look at sporadic cancer up top, you have two working versions of a cancer gene. One from mom and one from dad and over the course of your lifetime, say, you pick up the not-so-great habit of smoking cigarettes that is proven to be a cancer risk factor. Um let's say that that smoking results in a mutation in one of your cancer genes. That's okay. You still have that other copy that's making the protein, doing the thing providing the instruction that your cell needs for normal growth and development. But let's just say you continue down the path of smoking or maybe there's again not to pick on people but maybe a heavy tanning bed use or some other type of risk factor that results in another injury or another mutation. A second hit is what we call that. And now you have a mutation in both of those cancer gene versions. One for mom and one from dad. Now neither one of them are working. The cell is essentially lost that regulatory ability or has lost that function of the gene and now the cells don't have the control that they need and make copies of their damaged self and we have a cancer or a tumor. Now, with hereditary cancer, you're down one from the start. Unfortunately, you've inherited a mutation from one of your two parents and you can live your whole life in this state and never go on to cancer having one broken version and one working version but you if you do go on to in acquire a second mutation, excuse me, that can ultimately lead to the same outcome as we mentioned before where we've knocked out the regulation or the normal gene function and the tumor can take hold or the the essentially the cells are growing abnormally. Okay. Next slide please. So, just to hit back on that again. Not everyone with an altered gene or a mutation in a cancer gene develops cancer. Um there's a that we don't understand about modifier genes and how cells respond to DNH damage and how they repair it and they're also as Patty mentioned so nicely in her first slide series was that there are other risk factors that are involved in cancer development. And those things can be hormonal, reproductive, and they certainly can impact whether or not a person who has a germ line mutation actually does go on to develop a malignancy Next slide please. So, just to briefly hit on the inheritance pattern. I know that there's a question about this is at the beginning in our subset of questions that were released. I was like, okay, well, if I have a mother or if I have a sister with a braca mutation, should I be tested as well? And the answer is yes. Um and the reason behind that is that these genutations move through families in a pattern called autosomal dominant inheritance which is basically just genetic lingo for saying, if you have a carrier parent, there's a 50% chance you are gonna be a carrier yourself and also have that elevated cancer risk. So, it's an independent event every time a pregnancy is conceived. So, if there's a carrier parent, there's a 50% chance they'll pass that mutation on. There's a 50% chance they will not. Um and if you are not a carrier, you cannot pass on that mutation. You cannot pass on something you don't carry yourself. So, I have seen cases clinically where we've identified. Um of a parent and then we go on to test children and luckily because it really is, you know, essentially a a coin toss. Um all of the children have tested negative. There have been unfortunately other certain areas where everyone has tested positive or there's been a combination of positive and negative individuals in a sub sibling relationship and that can certainly raise its own complications at times. Next slide please. So, just to recap, the red flags that we look for. I'm kinda thinking about that two-hit theory. Um early ages at diagnosis are red flags. So, we look for breast cancer diagnosis occurring prior to age fifty and then, multiple relatives on the same side of a family with breast cancer. So, it's important that we take into account a single family lineage at a time. So, mom side or dad's side. Other red flags include bilateral disease, Um so, Breast Cancer in both breasts, triple negative breast cancer, which is estrogen progesterone and her two new negative breast cancer. And then as I mentioned that pattern of autismal dominant inheritance. So, we see multiple generations affected. and then, additionally, we can see certain features that are suggestive of one particular cancer syndrome versus another and those can include things like rare tumor types including male breast cancer, pancreatic cancer, ovarian cancer, Um or we can see a constellation of cancers in a particular individual or a family that we know are consistent with a specific syndrome. So, for example, Broccoon and Broca two mutations are or confer an increased risk for cancers of the breast, cancers of the ovaries, cancers of the pancreas, prostate, and we can usually with some clinical accuracy determine or come up with a differential when we're looking at some of these families. and then, lastly, another risk factor because of a phenomenon called the founder effect, Ashkenazi Jewish Heritage, also is something that we evaluate or ask about in our sessions to see if there maybe a greater probability that the Cancer Center family results of germ line mutation. Next slide please. Alright, so the genetic counseling process is a little you know, I'm maybe a little biased but it's very important to helping patients understand not only their personal risk but also help them adapt to understanding this risk as well as addressing any concerns that they may have from a psych psychological or emotional perspective and also helping them navigate some of the familiar implications of the genetic disease. In this case, Hereditary Breast Cancer. Next slide. So, it may be a little bit of a misnomer. Um I know in genetic counseling was in its infancy. There was kind of a question about whether or not genetic counseling. Like, I don't need my gene city counciled or therapy for my genes or or what not in there. We do, of course, and our our field address some of the cycle social concerns. Um that may have come with a complex diagnosis or family history but It is not a therapy session in the traditional sense that you might receive psychotherapy. Next slide. So, overall, we're hoping that patients are able to integrate the the information that we give them and making kind of informed decisions that are respectful of kind of their values as well as their family's goals and hopes. We want them to be able to make informed choices where they feel comfortable not only with the information but their ability to interpret that information and then also feel like they are able to adapt not only themselves personally but perhaps help other family members adapt to the risk that might be involved with this particular mutation. So, overall, it lot of, you know, kind of prevention resources, research resources, and helping them understand the disease mechanisms and what they can do to address that. Next slide. So, with genetic testing, I'll just let this little slide pop up here for itself but I can, I can read it out for those of you who might like that. Um as genital counselor s, sometimes we're in a position where we deliver awkward news or difficult news but in this case, the genetic counselor is meaning of the patient and patient asks, am I a genetic test for come back and the Jedi counselor says, yes, sit down and the patient says, is it bad news? What are my risk factors? We can't be sure about this but we've analyzed genes on several of your chromosomes and it's hard to avoid the conclusion At some point, your parents had sex. Oh god, says the patient. Stay calm. It's possible. It was just once. Patient says, oh my gosh, I need to be alone. So, this is just a little bit of levity. Certainly, there are circumstances that are not gonna be quite so silly but it's important to know that here that genetic counselor s are involved in the process of delivering information and helping patients cope with that. Next slide so with genetic testing, the covid-19 pandemic has kinda forced the hand of delivery and a little bit of the genetic testing realm. Um genetic testing for the most part can be performed on various different sample types and that's gonna be patient specific and in some cases, we'll be determined by a patient's clinical status. So, often the samples are blood or their buckle or saliva. Um but in cases where we're dealing with a patient who may have had some really intensive chemotherapy though that's less of an issue than it than it had been or patients who have a have had a bone marrow transplant or patients who have had or have an active hemoignancy or blood cancer. We do need to take steps to ensure that we're looking at the DNA of the individual's germ line. Not the DNA or the mutations that are the result of either a blood cancer for example and also sure that we're looking at a patient's genetic or makeup that is theirs, not a donors in the event that they may have had a bone marrow transplant. So, that can all be coordinated and you know, determined by the genetic counselor to ensure that the testing sample is accurate and will give accurate results. Um testing kits can be shipped to patients at home now for collection at home and most insurance companies are covering the cost of this genetic testing particularly if established criteria are being met. There are insurance providers that have very specific criteria amongst their own plans that they follow but typically, if a patient meets NCCN guidelines or the National Comprehensive Cancer Network guidelines for genetic testing, insurance companies are covering the cost. But the testing has become quite a bit more cost effective or a little more approachable from a financial perspective and most patients do now have the option to pay for the testing out of their own pocket without insurance and the average cost for that is about $250. Um test results are usually on average about two to three weeks to come back and that's all dependent on the specific test that was ordered in the lab that's doing the testing but there can be cases where we need to have a testing ordered stat for patients who may need surgical decision making and if it's a blood sample, the bloods collected in the office and then that's shipped out overnight. We can sometimes get test results back in as quick as five days. Next slide, So, Patty kinda was hitting on this at on her lecture as well about how we work with patients to clarify their personal risk levels and how to address that and the benefits of genetic counseling are to kind of add another layer of personalization to a particular individual's cancer, risk management plan and we can give them strategies like more frequent imaging or screening protocols. We can recommend things like prophylactic surgery, certain medications like tamoxophan, or adjustments to life style including, you know, healthy diet, managing body weight, as well as maybe cutting out hormone replacement therapy if that's been prescribed or limiting alcohol use or smoking cessation. Then, for those patients who have been diagnosed with breast cancer, we talk about options for treatment including surgical planning as well as certain medications that might be helpful because of their germ line mutation carrier status For example, Broccoli and Brocco 2 mutations. Um there are there are a classic drugs called parp inhibitors that are particularly efficacious in that patient population. Next one, So, another important part of the genetic counseling process is to ensure that patients have informed consent and we go through all the considerations that they may want to make prior to submitting a sample and getting test results back. So, even if we do genetic testing, it's important to know that only about five to 10% of Breast Cancer is the result of a gene mutation that's passed down from parent to child or hereditary. So, there's that continued risk for sporadic cancer. So, it's not a, you know, kind of get out of screening free card if you have a negative test result. Um and it may not rule out hereditary risk. That's the other important thing. Um for our typical Breast Cancer panel size, if we were to do a comprehensive breast panel, we're looking at a ballpark between like 18 to 28 jeans that have been associated with hereditary breast cancer. Um if you recall, there are 20, 000 genes that exist in every single cell. So, there's a lot that we don't know and just because testing at this point in time may not identify a mutation. It doesn't eliminate the possibility that they could be a mutation. It's just in a gene we haven't discovered yet or cannot test you for. a step further from that is what has happened is our ability to test has gotten a little farther ahead of our ability to interpret and there are some genes that are now on clinically available panels that may not have the greatest medical management guidelines or may not have risk levels or risk management protocols that are very well established or there there's a lot of consensus on. So, what that can often mean is that if we have a test result that comes back positive, we may just be able to sell a patient well, this mutation, or this gene has been linked with an increased risk for breast cancer but I don't have a precise, you know, number I can prescribe or assign that risk level for and additionally, I may not be able to give suggestions on on how best to manage that risk and then, of course, with these G mutations for the most part, we're talking about adult onset risk. So, testing of minors is not encouraged. We generally would like for patients to have the testing discussion for heredit Breast Cancer after the age of 18 once they can make kind of an independent informed decision as adults. Um and then finally, I do like to just kinda briefly hit on genetic discrimination. There are now federal laws and there's been a federal law called Gina or the genetic information nondiscrimination act that has been in place since 2008 and what Gina says is it's illegal for health insurance to take a positive genetic test result and use it against patients as a preexist condition So, that does protect to a certain degree, health insurance but the gene of law does not apply to families who may have their health insurance through you know, private employer with fifteen or fewer employees. Also, doesn't apply to the military and Gina does not extend protections for things like life insurance, long-term care insurance, and long-term disability insurance. So, those are discussions that important to have on the front end before patients elect to have testing. And then certainly, as I mentioned in the one picture explaining how gene mutations are inherited. Um there are situations where we will have a carrier parent and then we will have children that elect to have testing done. Um and that can certainly be a complex situation for families to navigate. It can be hard for some individuals to learn they're positive or negative. There's that, you know, always a discussion that we will have regarding anxiety, your survivor guilt, and other implications that a positive or a negative test results can have for a patient. Next slide. So, just in conclusion, as I mentioned, all Cancer is genetic but most cancer is not inherited as Patty discussed with her slides. There are lots of risk factors for cancer. Some of which are identified just by doing a mammogram and and and learning whether or not a patient has breast tissue that's dense or fatty. Um and then the likelihood of someone having an inherited risk for cancer is something that's determined by a patient's personal history as well as their family history. And Jeanette counselor s work with patients to help them and their families as well as their providers if if necessary understands the test results and how to make informed decisions regarding those test results. And ultimately the test results can impact medical management, improve patient outcomes as long as there's been a discussion. Um that is comprehensive and allows for them to make, you know, informed decisions. So, that is all I have. Thank you. Uh well, thank you both for that really helpful presentation. We'll not open it up to some questions. I'll go ahead and read a few that were submitted beforehand. Uh Elizabeth I, think you did a good job of covering few of the genetic risk questions that were already asked. Um we have, what are, what are some breast changes that should always be evaluated and discussed with a health care provider? I'll take that one. So, any woman that comes in for a breast evaluation, I always ask them about any skin changes on the breast whether or not they've had any redness or rashes. Um any lumps, anything abnormal. Um that's why we encourage breast self exams. Um we call it breast awareness now. Um no more often than month to month. Um because women were finding things when they were examining their breast too often that imaging for them and actually some harm was caused by doing that more often. The nipples are a particular area to pay attention to. Um if there have been any changes in the nipple, in the skin of the nipple, or certainly if there's been any discharge from the nipple. That doesn't always mean that you have cancer but it's worth evaluating and looking into. Okay. Um I know you both have touched on this a bunch but if you could, maybe each of you kinda say, how is the high-risk program at Massey different from other Breast Health Clinics? Well, we pay particular attention to their risk for breast cancer and we evaluate them to see if they're eligible for additional screening or surveillance or certainly if they're eligible for risk reduction therapy. Mm. That or genetics. Mm. Yeah and I'd like to echo exactly what you know, Patty said. I think the the nice thing about having these high-risk breast clinics is that it provides patients with a kind of a one-stop shop and they can go in and they can meet with providers who have all of their different specialties as it pertains to a very specific disease Um of the breast, whether that be cancer, some other type of of problem or even if it's not truly yet a malignant process, maybe it's something that we're just monitoring them with either one, the hopes of preventing it or two, catching it earlier in the event that they maybe they're at elevated risk because of a mutation that they carry or other risk factors. So, I think of the multidisciplinary approach is a really important one and one that, you know, Massey does offer. Okay Um how can how can breast biopsies increase the risk of breast cancer? So, I mentioned breast biopsies but what I should have said was multiple breast biopsies and it's not so much the actual biopsy that causes the risk. It's it's the reason that they were having the biopsy. It's what the tissue looked like behind it that can put them at risk. Um and so, you know, the breast changes that are observed on mammograms are more of, you know, what we're talking about. Also, the increased density on breast imaging I. hope that's helpful If you've already had breast cancer, will genetic testing help predict the risk of recurrence? Yeah and that that's a great question and I think it's a little twofold. It really depends upon the type of genetic testing that's being ordered. So, we talk about genetic testing and breast cancer. It's important to differentiate, I think, between germ line genetic testing as well as the genetic testing that's actually done on the breast tumor itself. Um so, there are certain tests that I I can't speak to specifically but things like ancho type, those are are tests that are more of a profile of the tumor and that can give the oncologist a sense for how aggressive that particular breast tumor is behaving and what the chances are of it recurring if certain things are not done. Um including like chemotherapy. But in the realm of hereditary breast cancer. Yes. There are certain genes that we know of. Um that if a woman has had breast cancer once her chance for developing a second breast cancer or a bilateral breast cancer breast cancer on the opposite breast. Um is is elevated. And and those particular circumstances we talk about genetic testing often before surgical decision making and what happens in those cases is if we have a patient who tested positive for a brock mutation, has a current breast cancer diagnosis, perhaps her tumor size is small with the current diagnosis, but we know her chance for getting breast cancer again is great. So, rather than maybe doing like a breast conserving surgery, which would be appropriate if she weren't a mutation carrier. Um doctors would talk to her perhaps about prophylactic mastectomy instead. Um cuz we know the chance for her getting a second cancer is great. Right? I think that's all we have as far as questions so Patty and Elizabeth thank, you so much. It was a pleasure having you to join us for this important discussion. Um for more information about High Risk Breast Cancer, you can follow at VCU Massey Cancer Center on Facebook or visit Massey Cancer Center at Massey Cancer Center.org. Once again, thank you both and to anyone who joined us this evening, have a great night.
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