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Melanie Cole (Host): Welcome to Expert Insights with Carle Foundation Hospital. I'm Melanie Cole. Joining me to talk about managing a higher risk for breast cancer is Hannah Dignan. She's a nurse practitioner at Mills Breast Cancer Institute at Carle Cancer Institute. And Arlie Button, she's the lead genetic counselor for Carle Cancer Institute. Thank you both for being with us today. Arlie, I'd like to start with you and I'd like you to just tell us how much having a BRCA one or two gene mutation increases a woman's risk of breast or ovarian cancer. Tell us a little bit about those gene mutations.

Arlie Button: So having a BRCA one mutation would give a woman a risk of breast cancer. That's something like 70%. BRCA two is a little bit lower, 60% risk for breast cancer and a woman's lifetime. That's compared to the general population risk of 12%, and mutations in those genes also increase risk of ovarian cancer and male breast cancer. prostate cancer, and pancreatic cancer. Only one in 400 people has a BRCA mutation. Most people who are facing high risk of breast cancer don't have a genetic mutation, but they have maybe risk factors or familial risk factors that are causing them to be higher risk for breast cancer. In general, anyone who has a risk of breast cancer, that's greater than 20% in their lifetime, is, quote unquote high risk, with the very high risk women being greater than 40% risk in their lifetime to develop breast cancer.

Melanie Cole (Host): Well, Arlie sticking with you for just a minute. How is breast cancer risk calculated? If it's not all based on the BRCA gene mutation, what else are you looking at?

Arlie Button: So we have a number of risks, calculators like, the Gail model, Klaus model, Tyrer Cuzickand several others that take into account things like how old was a woman when she had her first period? When did she go into menopause? How dense are her breasts? has she had a breast biopsy? Has she had children? When did she have her first child? Who had breast cancer in her family? What age was that? Relative? Did anyone in the family have, genetic testing so far? It takes into account all of these things and it spits out some numbers about what is the risk that a woman develops breast cancer in the next five years?

What is her risk to develop breast cancer in her lifetime? And then use those numbers to make recommendations about chemo prevention, like Tamoxifen or aromatase inhibitors, or to make recommendations about breast MRIs and mammograms or increased screening, which is what Hannah does.

Melanie Cole (Host): So then Hannah, what aspects of family history should raise concern for a high risk of breast cancer? Tell us a little bit about some of those other risk factors.

Hannah Dignan: So in the National Comprehensive Cancer Network guidelines, comprehensive screening should recognize family history in up to second degree relatives, sometimes third degree relatives if we're talking about cousins. So in a high risk. assessment, one of the things that I will look at for family history is the age of diagnosis of breast cancer. How close the person is related to the patient. BMI can increase one's risk of breast cancer. Starting a period very early in life can actually increase a patient's risk for breast cancer. Starting menopause late in life. Hormone replacement therapy, being given long-term post-menopausal can increase a person's risk for breast cancer, as well as whether the patient has had a biopsy that has developed any atypical hyperplasia or lobular carcinoma inside too. But also truthfully, the act of having a diagnostic biopsy can raise the risk for developing breast cancer by calculators standpoints, sometimes by a few percentage points. So all of these things would be considered when I meet with a patient.

Arlie Button: And a family history, the cancers that are most concerning, for being hereditary are things like breast, ovarian, uterine, colon, pancreatic, prostate cancer, and sometimes melanoma. So those are the cancer types that should raise alarms if a provider is learning about those in a patient's home.

Hannah Dignan: I will also add that occasionally I will see a patient who has a personal history of one of those other cancers. And sometimes because of that, that might raise the alarms for me to consider what that patient might be at risk for a secondary malignancy. And sometimes that will cause me to want to refer someone over to Arlie, especially with high risk for breast cancer, as well as a personal history of let's say an advanced melanoma.

Arlie Button: And then in general, early ages of diagnosis. So before age 50 being diagnosed, or if we're talking about prostate cancer, maybe we'd adjust that to 60 or younger. People being diagnosed with multiple cancers in their lifetime, like Hannah was saying, or, a family that's getting the same cancer over and over again in multiple relatives. Or certain ancestries like Ashkenazi Jewish ancestry, because people with Ashkenazi Jewish ancestry are 10 times as likely to have a BRCA one or two mutation.

Melanie Cole (Host): Well, then let's talk about screening. So Hannah tell us, because there's been some confusion over the current recommendations for screening mammography. I'd like you to speak about the different kinds and the different types of mammograms that are available today. And for people listening, the difference between diagnostic and screening?

Hannah Dignan: Great question. So right now, mammograms are, essentially the gold standard of breast cancer screening. So I never want to ever leave anybody with the impression that they are the sub optimal screening exam, but a breast cancer screening by mammography essentially is an x-ray of the breast tissue. There is 2d versus 3d mammography, and there is tomosynthesis which uses computer assistance detection. Now in the high-risk or general risk population, the recommendations for 2d versus 3d is still being investigated as to which one is more advantageous for which population. In the screening situation or in the screening context, the mammogram should start at an annual basis at age 40.

That's the general recommendations. There are some recommendations that state that a person can start at 45 but the American Cancer Society does state that we should start it at the age of 40. In a screening mammogram situation, we would want the patient to have ideally breast complaints. So it's in the asymptomatic state. However, diagnostic mammography is for the purpose of diagnosing a condition. What that will entail is a normal mammogram, which you would have obtained when you were getting a screening, but it brings the radiologist in the room to perform a diagnosis right away. Typically this is accompanied by an ultrasound. These are reserved for women who have specific complaints.

So for instance, a woman who develops a new onset, self detected breast lump would have a diagnostic mammogram, and then likely an ultrasound coupled with that. If the patient recently had a screening mammogram, which was negative, sometimes we can also order a diagnostic mammogram of just the breast of concern. But if it's been a while Since her last screening mammogram, we would order a bilateral diagnostic mammogram and an ultrasound to look over the area of concern. Also, as we know, as clinicians, they are billed differently under insurance. So I always counsel my patients prior to ordering these things. Not saying I would detract anybody or tell anyone not to do diagnostic exam, but I let them know that it will be built under diagnostic services and not under screening services.

Melanie Cole (Host): That's an important distinction. And thank you for making that. So Arlie, let's talk about referral to an oncology genetic counselor. Tell us a little bit about what's involved in a genetic consult and your role in oncology and beyond. Tell us a little bit about referral.

Arlie Button: So when someone's referred to me and they get scheduled, we send them a family history questionnaire and try to collect their, basic medical history and family history ahead of time, and then when they meet with me, I get a little bit more detail on their medical history. We go through their family history, again, and see if there are any additional, pieces to add and then we talk about cancer and cancer, genetics, and genetic testing. I do a lot of education on, how cancer happens and the different genetic conditions. So if a patient is coming to me because of family history of breast cancer, then we talk about BRCA one and two, but also the other breast cancer genes. Like the high risk genes, including TP 53, CDH one, P 10, Palbi two. but then we also talk about the moderate risk breast cancer genes, Check two and ATM and several others.

And I tell them about, what the chances that their family has a mutation in one of these genes. And then we talk about, environmental factors that could be putting them at risk for breast cancer, because most people who see me, aren't going to have a rare genetic condition that only makes up about 8% of all breast cancer. Most people who get breast cancer, get it because of environmental factors. So we talk about that, and I get them consented for genetic testing. Once the testing is ordered, it takes about two to three weeks to get results. That's either a blood draw or a saliva test. And we'll do that testing get results in a couple of weeks. And I call them with the results, discuss those results over the phone usually, and write up everything, pass it along to the referring doctor.

Melanie Cole (Host): Well then Hannah, what does a woman do if she finds out that she is at higher risk, what does she do with that information? And how are high risk women managed as they age?

Hannah Dignan: So that's a great question. It is facility dependent on how many resources are available to that woman. But I will say for our clinic, what will happen is, you get the calculations. I give them to the patient right away or Arlie actually does a great job of also calculating the person's breast cancer risk. So the first thing we need to look at is we need to look at what is making her a high risk. Is it her lifetime risk? That's putting her at a high risk. Is it her five-year risk, which is putting her at a high risk for breast cancer. And all of these things are managed differently. So in our clinic, what I will look at is essentially what is causing her risk to be elevated.

Is it lifetime or five-year risk? And then she may be qualified for additional breast cancer screening. So we talked earlier about screening mammography, which is very important and is the cornerstone of breast cancer screening. That would be continued annually. But typically what I will do is I will take over ordering those things so that the patient always has mammogram ordered and then it's reviewed by the high-risk clinic. Additionally, if her lifetime risk is greater than 20%, she may qualify for screening, breast MRIs, which are completely different from mammograms. They do have a higher, false positivity rates. They are much more sensitive than mammograms.

And have a three time higher likelihood of unnecessary biopsies or extra biopsies, I would say, or extra screening or extra diagnostic films. So I always let the patient know about that prior to ordering it. But in most situations, they are very effective at determining what the breast tissue looks like. They're very good at parsing through dense breast tissue. They're also good at picking up things that may not have been picked up as well on a mammogram. So they would be essentially offered a higher risk screening for breast cancer protocols. Which would entail those two. Now jury is still out on whether they have to be one or the other every six months.

But I found that a lot of women like that schedule because they know that every six months they're going to get a picture. And so they don't have to worry about missing a breast cancer that would pop up in a year. If they qualify for medication to reduce the risk of breast cancer. I know Arlie mentioned it earlier. Tamoxifen or aromatase inhibitor that is determined by the Gail model. And if their five-year risk is greater than 1.7%, it sets them up on a trajectory of being a high risk over time. They would qualify for medications, which would be given through my clinic five years. And we have four drugs approved on the market Tamoxifen, Raloxifen, Anastrazole and [inaudible].

And so we would prescribe those based on a discussion with the patient. And I typically just continue seeing them while they are on those medications to ensure that they're tolerating them well. But those can reduce the patient's risk. Of developing breast cancer by 50%. So very encouraging.

Melanie Cole (Host): Certainly is. And I'd like to give you each a chance for a final thought here. So Arlie the importance of other family members being evaluated by a doctor, a genetic counselor. Tell us a little bit about how your program identifies those family members who might be affected and provides treatment and counseling for their condition.

Arlie Button: So we try to test people who have actually been affected with cancer themselves. So if we can do genetic testing on the person who actually had breast cancer and determine was that hereditary or was it just due to environment, then that's going to give the whole family the answer. We try to avoid testing, doing genetic testing for people who, just had a family member who had breast cancer, because usually those people are going to come back normal on their genetic testing. And it's uninformative. It's uninformative because we don't know if they're coming back normal because there's a mutation in their family that they did not inherit.

Or if there was a mutation in their family and a gene that we haven't even discovered yet, or if they're coming back normal because the cancer and their families due to the environment. This is not a test for environmental cancer. Everyone who has environmental cancer comes back normal on genetic testing. And we don't learn anything from that test. So we try to test people who do have cancer to get our answer. So that's the first part about how it's important to sort out, who's going to get tested in the family. Once there is a mutation in the family that's been identified on a genetic test and it's important to get other relatives tested because first degree relatives, someone's children would be at 50% risk of having, that same mutation.

Someone's brothers and sisters have 50% risk someone's parents, either came from mother or from father. And so identifying who else shares that mutation, is important because then they can take the opportunity to have additional screening, to identify cancer early, or they can take steps to reduce their risk of cancer. So if we're talking about breast cancer and reducing risk there, now a person can, think about, things that reduce risk of breast cancer, like having children, timing those children. So having children earlier, maybe before age 30 is going to give you the best reduction of risk for breast cancer, breastfeeding your children, getting exercise, maintaining a healthy weight, limiting alcohol to no more than one glass, a night, eating a low fat diet. Thinking about some of these drugs that Hannah talked about to reduce risk of breast cancer. And some people are high enough risk that they do have surgery to remove their breasts, to reduce their.

Melanie Cole (Host): Well, thank you. And Hannah, last word to you for other providers listening, how do they counsel their patients when they get that inevitable question of what to do with this information? And when you feel it's important that they refer?

Hannah Dignan: So I would say that I. Instruct the providers to be confident and to be an advocate for the patient by saying, look, this is the information that we have. But one of the things that I would stress is that breast cancer is very detectable by screening. And so when they need to refer, oftentimes I'm the one doing the calculations, or Arlie's the one doing the calculation. So they should just recognize what risk factors may put them at an increased risk, like biopsies which have shown atypical cells, family history of multiple family members with breast or ovarian cancer, as well as a family history of a genetic mutation. They should be referred over for expert consultation at that time.

But what I would stress to providers is just to inform them that the game plan is needing to be set so that we can screen the patient the most appropriately for breast cancer. For instance, if a patient has a family member, who's a first degree family member. Diagnosed with breast cancer at 45, starting her mammograms at 40 is not appropriate. And so we can parse through and come up with an individual care plan and recommendations for that patient. So she screened the most appropriately for her risk. That's the most rewarding part of my job is being able to help women get all of the questions answered and have them screened appropriately for breast cancer.

Melanie Cole (Host): Thank you both so much for such a comprehensive podcast. What great information. And if you have questions or would like more information, please call Carle Cancer Institute at 217- 3010. For more information or to get connected with one of our providers, you can always visit Carle.org. That concludes this episode of Expert Insights with Carle Foundation Hospital. I'm Melanie Cole.