Prophylactic Surgery for Women at High Risk: Part 2

Jamie DePolo: Hello, everyone. I'm Jamie DePolo, the senior editor here at Breastcancer.org. This podcast is part 2 of our podcast with Dr. Alan Stolier, who is a surgeon at the Center for Restorative Breast Surgery in New Orleans. Dr. Stolier has more than 35 years of experience in surgical oncology, and he specializes in the surgical treatment of breast cancer. He is a pioneer in the development of nipple-sparing mastectomy and also focuses on breast cancer genetics and the associated care of women who have an abnormal BRCA gene. He is a fellow of the American College of Surgeons and is a member of numerous professional societies including the American Society of Breast Surgeons.

So, we get a lot of questions about genetics and preventive surgery, and Dr. Stolier is giving us more information about that. We'll start out with timing of preventive surgery. Is the timing of surgery that you would recommend different depending on the type of genetic mutation a woman has? I believe I've seen some research that suggested it's more urgent for a woman who has an abnormal BRCA1 gene to do it earlier than compared to a woman with an abnormal BRCA2 gene. Does that sound pretty accurate?

Dr. Alan Stolier: That's pretty accurate. So if you look at the average age -- and I want to emphasis average age -- if you look at the average age of developing cancer, women, in general, who have a BRCA2 mutation tend to develop cancer, both ovarian and breast, at a later time. Now, we don't have the exact numbers for breast, but for ovarian it's 8 to 10 years later. But again, that's average, and the same thing goes for breast. Having said that, we have seen BRCA2 patients in their early 20s with breast cancer. So there's a curve, and the curve has shifted where there’s a majority of women with BRCA2 develop breast cancer at a later age, it's not 100% accurate, and you can't count on it. You can't count on it.

Jamie DePolo: Okay. So it's really more of an individual...

Dr. Alan Stolier: It is, and it depends on where someone is in their life, certainly socially. Are they single? Are they married? Do they have a complete family? Lots of different issues come into play, many of which we are looking at, and trying to assess as surgeons. And at the end of the day, many times we have to ask the woman what she feels because we think we know, but many times we don't as to how they feel about having breast tissue removed or having their ovaries and tubes removed. It's a big decision.

Jamie DePolo: It is, and I know I've talked to several women who found out in their 20s that they had a BRCA1 or 2 mutation and they felt a lot of pressure because they wanted to reduce their risk of cancer, but they also wanted to have children, but they weren't in a place at that time where they could. So they were trying to make all these decisions, and it was very hard. It was very hard for them.

Dr. Alan Stolier: It's extremely difficult. One of the things that has really just amazed me... I've been involved in this type of thing forever, and I am dumbfounded by the advances made in ability to check, for instance, embryos to see if they carry a genetic mutation. This is a tremendous advance, and I think that women who are in a stable social situation who want to have children have a lot of options now that they did not have just even a few years ago.

Jamie DePolo: That's true. I'm also curious because we know there are....

Dr. Alan Stolier: In vitro fertilization and embryos tested to see if they're carrying the gene mutation so lots of advances, and I would say, "Stay tuned."

Jamie DePolo: Okay. I'm curious, too, we know that there are other genetic mutations that are linked to a higher risk of breast cancer. If I came to you and I had tested negative for a BRCA1 or 2 mutation, but was positive for, say, a PALB2 mutation, am I a candidate for preventive surgery?

Dr. Alan Stolier: Well, the short answer is yes. The little bit longer answer is, and I think what women need to understand, is that what we're doing now in our testing has changed. There is a sea change that has come about in the last couple of years where in the past we were testing just for BRCA1 and 2, now many times we're testing for 8, 15, even 25 different genes, many of which -- not all of which -- affect a woman's risk of developing breast cancer and ovarian cancer. There are some that we know that we're testing for, and what you talked about, which is PALB2, it is now recommended that women who have mutations in that gene consider risk-reduction mastectomy. There are other genes that we test for that have a much lower risk of breast cancer, but still elevate it. There are a couple right off, ATM gene. There's a gene called CHEK2. There's a gene called STK11. There are a number of genes that increase risk, but probably not to the degree that we in the medical profession can say, "We think you should strongly consider risk-reduction surgery." So some yes, some no and still we're going, we're still trying to figure this out.

Jamie DePolo: And with some of those genes, too, I'm wondering if you... Say you had a mutated CHEK2 and a mutated something else that was lower, there is some overlap, though, so if I had two or three of those, my risk might be higher than the 30% that one of the mutations...

Dr. Alan Stolier: I would absolutely think so. I would absolutely think so. And fortunately, so far we're not seeing a lot of multiple mutations, but it won't surprise me as we do more and more of these profile gene testing, as opposed to individual gene testing, that we don't begin to see some of these overlaps.

Jamie DePolo: Sure. Okay. Now, if I'm a woman who's had preventive surgery, say I've had mastectomy and ovary, and tube removal, and possibly uterus removal, what type of screening program is recommended for me?

Dr. Alan Stolier: Well, of all the things that we talk to women about that are controversial, this is probably the biggest. I think the gynecologists recommend that women consider doing routine labs, which for a GYN would be, for ovarian cancer, would be a CA-125.

Jamie DePolo: And that's a blood marker. Is that correct?

Dr. Alan Stolier: That's a blood marker done once or twice a year. Unfortunately, the data really doesn't yet support the fact that if you do this, everything's going to be rosy and nice, that we don't know actually in ovarian cancer whether doing blood tests and ultrasounds actually reduces the risk or actually finds cancers earlier. It's a really a tough... It's unlike breast cancer where we think mammograms and MRIs actually improve the prognosis of a breast cancer that's found. For women who have had mastectomy, and let's assume reconstruction of some sort, the data right now today does not support routine imaging, okay, routine imaging.

Jamie DePolo: And that means a yearly mammogram.

Dr. Alan Stolier: It means mammograms, MRIs, ultrasounds. It's not to say that sometime in the future we may gather enough data to make a different recommendation. And I am extremely careful to tell the women that we operate on for this problem that one of the reasons to go in at least once a year for routine examination is not just to have the examination, because I think many times women can do just as good a job as we can at checking for lumps and bumps under the skin. One of the reasons is to make sure that you're up with what's going, because when a woman had her prophylactic, or risk-reduction mastectomy, maybe the recommendation was no imaging. But maybe 5 years later, the recommendation may have changed. And there is almost no way that she was going to find this information out. But if she goes in at least once a year, potentially twice a year, for a clinical exam, not a breast self-exam, but a clinical exam by a healthcare professional of some sort, that information then becomes available to her, and changes can be made in her follow-up. So I think that's the reason to go back. That's the reason to see at least one of your healthcare professionals after you've had your prophylactic surgery.

Jamie DePolo: Okay. Now, is the recommendation different if somebody's just had one of the surgeries? Say I've had prophylactic mastectomy, but not ovary or tube removal. Are the screening recommendations different or no?

Dr. Alan Stolier: Well, the screening recommendations then would stay in effect for the ovarian cancer, okay? So if the recommendation is to have twice a year transvaginal ultrasound, a pelvic exam, and a CA-125 blood marker, then you would continue that as long as your tubes and ovaries remain intact.

Jamie DePolo: Okay. And I would assume that the screening recommendations for a woman at high risk who has had no surgery would be what a woman at high risk should have, so probably twice a year an ultrasound...

Dr. Alan Stolier: Precisely. We just talked about the recommendations for evaluation of ovarian cancer. For breast, as I recall, the recommendations are for women to become aware and possibly begin self breast exam at age 18, to begin having a clinical exam by age 25 twice a year, and to consider MRI and mammograms yearly beginning somewhere in year 30, 25 to 30. And we usually alternate mammograms and MRIs. If you're going to start at a younger age, then I would just start with an MRI, if you were going to start at 25. But then when you hit age of 30 or thereabouts, then you can alternate an MRI and a mammogram so that some imaging would be done on a 6-month basis, every 6 months. One 6-month event would be a mammogram, the next 6 months would be an MRI.

Jamie DePolo: Okay. Okay. That makes good sense. I'm also curious, too, is preventive mastectomy and reconstruction different for a woman at high risk who hasn't been diagnosed with breast cancer versus a woman who has? Obviously, if someone's been diagnosed and the cancer is in just one breast, there's going to be some type of surgery there whether it's lumpectomy or mastectomy, but is there a big difference between someone who's been diagnosed and someone who hasn't? Are there more options for one or the other, or different choices?

Dr. Alan Stolier: In general, the surgeries are about the same. There are differences, and the difference is someone who's been diagnosed, we've got to deal with the cancer. And, if hopefully an early-stage cancer, it would also involve removal of a couple lymph nodes on the side of the cancer. If the cancer is close to the skin, it may require us to remove a piece of the skin that overlies the cancer in order to get it completely out. So we have different considerations. Once dealing with the cancer, then the surgeries are essentially the same.

Jamie DePolo: Okay. Okay. And the reconstruction options are pretty much the same?

Dr. Alan Stolier: The reconstruction options are generally the same, except if someone is diagnosed with breast cancer that will require post-mastectomy radiation. The reconstruction options then are different. Someone who is going to require radiation is not, in general, a good candidate to have their own body tissues used initially for the reconstruction. In that instance, what we don't generally want to do -- and there's a little bit of disagreement here -- but in general, most people feel that if we're going to reconstruct someone and take their own body tissues to do so -- like their tummy to do a tummy tuck and use the fat to reconstruct -- well, we don't want to come behind that, and radiate just this fresh, un-irradiated tissue, and cause some cosmetic changes to that area. We would rather do implant reconstruction, radiate that, and then come back later, and put in tissue that's not been irradiated into a fresh reconstruction. So there are differences, but the differences in reconstruction only show up in patients that have a little bit more advanced disease that require radiation.

Jamie DePolo: Okay. And the options for skin-sparing mastectomy, nipple-sparing mastectomy, those are pretty much the same for each of these?

Dr. Alan Stolier: They're the same except that we need to take into consideration the cancer in those patients that have cancer. So maybe the cancer's very close to the nipple, and that area of tissue needs to be removed. Whereas someone who's having a preventive mastectomy, or risk-reduction mastectomy, that is not a consideration. There are probably other considerations: how big are the breasts, how droopy are they, things like that. They may impact it.

Jamie DePolo: Okay. That makes sense. Does the pattern of family history affect the timing of preventive surgery? I guess I'm wondering is there a difference in when you would recommend surgery for a woman who's had many relatives who've been diagnosed with breast cancer at a young age compared to a woman who's had many relatives diagnosed as well, but maybe these relatives were older, they were in their 50s when they were diagnosed?

Dr. Alan Stolier: Absolutely. It does make a difference. And we tend to push the process along if a woman's family history has five or six family members or even fewer, but everyone has been diagnosed in their 30s. We're going to push them along a little bit more than if the same number of women are in their 50s. But all of those women clearly need to understand that development of breast cancer with a gene mutation such as the BRCA mutations is very much by chance, and just because one of your family members had it or two had it in their 50s doesn't mean that you couldn't develop it in your 30s. But we do take it into consideration.

Jamie DePolo: Okay. Do you find cancer during preventive surgery, and if so, how often does that happen?

Dr. Alan Stolier: Well, I would say that we to need to divide this into two. First is, is it important if we find cancer that has not reached the stage of invasion, where it is called a noninvasive cancer, a cancer literally that does not spread. So when we find that, it's really unimportant. The way we feel about it, thank goodness we were there in time, it's gone, and we don't really need to worry much about it. Then there's the invasive cancers, and I would add that our finding invasive cancers has gone down a lot in the last 10 years since we have begun doing MRIs prior to risk-reduction surgery. MRIs are fairly sensitive to invasive breast cancers. And so if someone has an abnormality seen on a breast MRI a few months prior to their risk-reduction surgery, we try to work that up and find out what is that and biopsy it, if possible, many times needle biopsies. If you look at the data that's out there about how often do we find cancer, it's variable, but in a study that I've looked at and that I use, the study came from MD Anderson. And they found an invasive cancer in a little under 2% of times that they operated. Actually, it was about 1.8, to be exact, 1.8 out of 100 women. But this was at a time that they were not even doing routine MRIs, so whether that could've even been reduced is hard to know.

Jamie DePolo: Is that something you routinely do then, if somebody's coming to you for preventive surgery, do you say, "Please, we need to have an MRI first."

Dr. Alan Stolier: Yes, we desperately try to get women to do an MRI prior to surgery or certainly within the year or 6 months prior to the surgery. We just want to try to leave as a little to chance as possible and try to cover all the bases that we can cover.

Jamie DePolo: Okay. Okay. And if I'm coming to you and I know I don't have an abnormal gene or a gene mutation, but I have a very strong family history and I want to have preventive surgery of both breasts, and ovaries, and fallopian tubes, would you recommend doing one first over the other?

Dr. Alan Stolier: So this is a different conversation than someone who has a gene abnormality. So one of the nice things about having a negative gene test is it really speaks to your risk of ovarian cancer. So someone who has a BRCA1 or a BRCA2 gene mutation has a marked increase in the risk of ovarian cancer. But let's say your family is a breast cancer-only family, there's no ovarian cancer, it's just breast cancer. And you come in, and you have tested, and you are negative, but you have very strong history of breast cancer, I would encourage you not to do anything with your ovaries and tubes at all in that situation because your risk of ovarian cancer appears to be the normal risk for the average woman. But I would absolutely discuss with you the benefits and the risks of having risk-reduction mastectomy, because that is what you're looking at in your family, and unfortunately, your family doesn't carry a gene that we've yet to be able to identify.

Jamie DePolo: Okay. If somebody did have a genetic mutation, are the surgeries ever done together? Would somebody ever have them both done at the same time or is that just too much?

Dr. Alan Stolier: To have the ovaries and tubes and... It depends many times on the type of reconstruction that you're going to have. If you're going to have mastectomy, say, without reconstruction or mastectomy with reconstruction with implants, then you could consider doing them both at the same time. It's my take, however, that the plastic surgeons don't want those two surgeries done together. For instance, whereas we don't need to make cuts in any other body areas when we do implants, the risk of an infection in an implant that you've encased being rather serious and require removal of the implant. And if you add a second surgery to that, you may increase the risk of infection. And so therefore, as a general rule, we would like to do them separately, but there are exceptions and there are times when it's appropriate.

Jamie DePolo: All right. Dr. Stolier, thank you so much. This has been so helpful. We really appreciate it, and I'm sure we would love to have you back in another 6 months to talk about more things. Thank you again.