Bill Klaproth (Host):  You can now get genetically tested to learn if you have an abnormal gene that is linked to a higher breast cancer and ovarian cancer risk. What are those genes and what if a test shows an abnormality? Here to explain that to us is Dr. Angela Mislowsky, breast surgeon at Tidelands Health. Dr. Mislowsky, thank you so much for being on with us. So, can you tell us right up front, what are those genes that you’re looking for?

Dr. Angela Mislowsky (Guest):   The two main genes that we are looking for changes or mutations in are the BRCA-1 and the BRCA-2 genes. These are the most popular genes that can be associated with breast cancer. There are several others; however, these are the two that everybody has heard about and the two we are most concerned with. 

Bill:  Do we all have that or is it just a female issue? Are we all born with BRCA-1 and BRCA-2?

Dr. Mislowsky:  Actually, we all are – male and female are both born with the BRCA-1 and BRCA-2 genes. In their normal function, they help correct any other genetic mistakes that happen in our body and, as a result, they keep some cancers from forming. However, some people can get what we call “mutations” in the BRCA- 1 or -2 genes and it’s these mutations that can put people at higher risk for breast and ovarian cancer. Obviously, breast cancer in both men and women, and ovarian cancer in just women.

Bill:   The BRCA-1 and -2 are there to protect us and if there is an abnormality or mutation, that’s when they basically don’t do their job and that’s why people are at a higher risk of cancer, then.    

Dr. Mislowsky:  Correct.

Bill:  Who should get the test for this?    

Dr. Mislowsky:  There are guidelines that we use actually.  The National Comprehensive Cancer Network - or the NCCN – puts forth guidelines and amends them about every year. What we look for when we talk to patients about being tested for the gene are a very strong family history – sisters and daughters and mothers and grandmothers--who all have breast cancer, men who have breast cancer, women who are diagnosed even without a family history at young ages, 40 under 45. There has also been some correlation between women with breast cancer and some family members that have pancreatic cancer, prostate cancer and also ovarian cancer as well. There are lots of little things to look at to help put together the big picture to see who should get genetic testing.

Bill:  For someone that does have a family history of breast cancer, at what age do you start getting tested? Is this something where someone in their 20’s should get tested?

Dr. Mislowsky:  Somebody in their 20’s can get tested. Because there are some significant things that we can do to help prevent a patient’s risk when we’ve found that they have a mutation in one of these genes, we like to have patients be mature enough to make these informed decisions about taking medications or surgery. When we talk about doing surgeries to help prevent a woman from getting these cancers, we want to make sure that they are married and have completed their child-bearing and things like that. Obviously, we want to know as soon as we can but we also don’t want to delay things too long either.

Bill:  What is involved in taking the test?

Dr. Mislowsky:  It’s actually pretty simple. To test for just the BRCA-1 and 2 genes, it can either be a blood test or it can be a cheek swab. However, one of the tests that we’re using now instead of the BRCA-1 and -2 is actually what we call a multi-gene panel test and it tests for 17 different genes that can predispose a patient to different cancers including BRCA-1 and -2 mutations. That’s actually just a simple blood test. They just come into the office and they can have their blood drawn and we send that out with a bunch of paperwork having to do with their family history. We usually get the results back in about 3-4 weeks.

Bill:  This seems like really good preventative measures to take. Do women and men that have cancer in their family, especially breast cancer, do you see a lot of them wanting to take this test?  

Dr. Mislowsky:  We do and we don’t. We have a lot of people ask about it. “Am I qualified to take it?” “Do I have to worry about my children and my brothers and sisters?” When it comes down to it, not a lot of our patients actually qualify to get tested, which is what we look for. I think people think it’s an easy fix and an easy test to get done which, of course, it is but the results can have some significant – what’s the word I’m looking for –

Bill: Drawbacks?

Dr. Mislowsky:  Yes, drawbacks and dictate their care in the future as well. Unfortunately, there is some legislation that people’s insurance can’t necessarily be changed based on the results of these tests but there are other things that they cannot be able to be qualified for based on these results as well.

Bill:  When you say qualify for the test what do you mean?

Dr. Mislowsky:  I mean following the National Comprehensive Cancer Network guidelines. Does the patient fit into the guidelines to be tested for the gene mutation or do they not? That’s what the insurance companies go by when they decide who they are going to pay to have the test run on. It’s not cheap. It can be several thousand dollars. We don’t want a patient to get stuck with a bill for something for several thousand dollars if they don’t have to be.

Bill:  If someone qualifies for the test, they take the test and unfortunately, it comes back positive, or, I should say, they are showing a mutation or abnormality, then what?

Dr. Mislowsky:  If the patient shows an abnormality or a mutation in either the BRCA-1 or -2 genes, if they currently do not have breast cancer, that mutation in the gene means they have up to about an 80-85% chance of getting breast cancer in their lifetime as a woman and up to about a 10% chance of getting breast cancer if they are a man. Also, for the women, that mutation in the gene means they have a chance of getting ovarian cancer. A risk increased from about 1% in the regular population to upwards between 20 and 40% with a gene mutation.

Bill:  That is a high risk. Oh, my.

Dr. Mislowsky:  It is very high.

Bill:  Wow. So, what are the options then for somebody who has this high risk of breast cancer?

Dr. Mislowsky: The options, there are actually several. We have tested, I say using in quotations “older patients”-- over 60 to 70 years old because the guidelines for what we can do only hold true up to the age of 70 because that is just the population that was studied. I have several patients that have mutations in the genes that do not want what we call “prophylactic surgery”, which I’ll mention in a minute, but we just follow them extra carefully with breast mammograms and breast MRI’s and clinical exams on a very frequent but regular basis so that if they do develop a breast cancer, we can find it and we can find it very early and treat it very early. Other things that some patients can do are, there are things that we call chemo prevention. It’s not necessarily chemotherapy but there are some pills something like Tamoxifen which can help decrease a woman’s risk of breast cancer if she has a mutation in one of these genes. Also, the most drastic measures which they’re not necessarily the worst are actually what we call “prophylactic surgery”. Either removing a woman’s ovaries, especially if she has completed child-bearing or actually doing what we call “prophylactic mastectomies” which is removing the breast tissue on these women that have the genetic mutation. That can decrease their risk of getting the breast cancer significantly.

Bill:  Is that what we would call a “mastectomy”?

Dr. Mislowsky: Exactly. A prophylactic mastectomy for both breasts. Yes.

Bill:  If the test comes back positive, basically there are three options. There is increased monitoring, chemoprevention, and then the mastectomy or the removing of ovaries.

Dr. Mislowsky:  Correct.

Bill:  If it comes back negative, is somebody totally in the clear then?

Dr. Mislowsky:  The patients that we sort of tell are in the clear are, say, the daughter of a woman who was known to carry the mutation for the gene. The mother carries the mutation for the gene. The daughter then will test negative for that mutation. That means the mother did not pass it down to her daughter so her daughter is not at the same risk – the 80 some percent risk. She goes back to what we call the normal population risk – say about 12-21 out of every 8. If there has been no genetic testing for mutations in the family and a woman tests negative for a mutation, then we treat her as what we call a high risk patient. She must have qualified for that genetic testing based on family history or her own known cancer at a young age. She is still at high risk but we definitely don’t say she is in the free and clear.

Bill:  What about the emotions of having a test and knowing? I imagine there would be anxiety in knowing that you have an abnormality or a mutation. On the other hand, I imagine that potentially there is guilt in a negative showing, too. I don’t have it but, gosh, my sister did or my mom did. Can you talk about that a little bit?

Dr. Mislowsky: Sure. A lot of times, when we test patients and they come back negative, we have not had a previous family member that has tested positive. I could understand the guilt of that patient but also, at the same time, they are obviously relieved. I, fortunately, or, unfortunately, have not had to deal with that situation very much but there is a lot going on in a patient’s head especially surrounding, “Do I want to get tested?” “Should I get tested?” “Should I do this for me?” “Should I do this for my kids?” A lot of those decisions are not easy to make, especially when we are deciding whether to send the test or not. The one thing we do in situations like that is actually refer our patients to a specific genetics counselor. One of the universities near us has a woman who has her master’s in genetic counseling and we send those patients to her. She has definitely more time than we do to sit down and talk through with the patient, with their family, the pros and cons of testing. What to do if it’s negative with your family. What to do if it’s positive. Who to contact. What to worry about and what not to worry about.

Bill: That’s good to know--that either way there are strategies for handling both.

Dr. Mislowsky:  Definitely.

Bill:  Let me ask you this: why should someone choose Tidelands for their breast health needs?

Dr. Mislowsky:  Us at Tidelands Health, and us specifically as the Coastal Carolina Breast Center, have two physicians, myself and my partner, Dr. Brackett, who are solely dedicated to women’s breast health, whether its breast cancer or breast lumps, abnormal mammograms and ultrasounds. This is all we do. We like to say that we will see you from the start all the way through to the end. We preform your biopsies.  We’re the ones who are giving you the results – us and our office staff are treating you and helping you through every step of the journey, whether it’s a journey for a negative biopsy or a journey for a diagnosis of breast cancer. We do go to all of the society meetings on an annual basis and are up on all the newest techniques and technologies for helping our patients get the best and most accurate care. We also actually think we have the best staff available to any patient out there.

Bill:   Absolutely. Dr. Mislowsky, thank you for your great work at Tidelands and thank you so much for your time today. For more information about Tidelands Health physicians, services and facilities visit TidelandsHealth.org. That’s TidelandsHealth.org. This is Better Health Radio. I’m Bill Klaproth. Thanks for listening.