Genetics, family history analyzed before prophylactic mastectomies

Host Amber Smith: Upstate Medical University in Syracuse, New York, invites you to be The Informed Patient with the podcast that features experts from Central New York's only academic medical center. I'm your host, Amber Smith.

Women who are at significantly increased risk of breast cancer sometimes elect to have their breasts removed in an operation called a prophylactic mastectomy.

Here to discuss how this is done is Dr. Lisa Lai. She's an assistant professor of surgery at Upstate, specializing in breast surgery. Welcome back to "The Informed Patient," Dr. Lai.

Lisa Lai, MD: Thank you, Amber. Thank you so much for having me back.

Host Amber Smith: The actor Angelina Jolie chose to have a prophylactic double mastectomy in 2013 after genetic screening revealed that she had a mutation of the BRCA (pronounced BRACK-uh) gene, which significantly elevated her risk of developing breast cancer.

After that, did you notice an increase in the number of women who undergo genetic screening and seek out preventive surgery to have their breasts removed?

Lisa Lai, MD: Yes, I know she was very public about her case. And for women, I think that could be helpful.

In general, the trends of genetic testing have been on the rise.

More genes have been discovered. More companies have brought testing forward. I think, in general, people and physicians are more aware now, her case helped women to put it into perspective, especially if they were thinking about their own family history or doing testing for themselves. But I think a public figure who had a result and did something about it, I think that could have been helpful for those types of patients.

Host Amber Smith: So, which women are the ones that genetic testing might be advisable for?

Lisa Lai, MD: Well, there's a really long list to determine exact criteria, but, generally speaking, those who have family history of certain cancers like ovarian cancer or breast cancer, especially if there's multiple relatives with breast cancer or at particularly young age, we refer to the NCCN (National Comprehensive Cancer Network) guidelines for testing, which are updated about every six months, and use dedicated genetic counselors to determine who's really eligible.

But generally speaking, those with family history of certain cancers may be eligible for testing even if they've never had cancer themselves.

Host Amber Smith: So we've heard about the BRCA, the BRCA genes, but there's others too, right?

Lisa Lai, MD: Yes. I think BRCA is most well known and carries the highest risk of breast cancer in a patient's lifetime. But there are other genes which can still have a relatively high estimated risk of breast cancer and are important to us. They may not have as hard guidelines for when to consider prophylactic surgery. Some of them are dependent on family history, and certainly the patient's personal preferences are considered very carefully, but some of those genes might be like PAL2B2 or CHEK2 or ATM. And the decision to have a prophylactic mastectomy in one of those circumstances is taken very carefully. They don't all necessarily need to have it, or we wouldn't necessarily recommend it for all, but it comes up in conversation.

Host Amber Smith: Well, I understand breast cancer in men is very rare, but are there men who have a significantly increased risk and would they be candidates for prophylactic mastectomy?

Lisa Lai, MD: These genes that increase risk of breast cancer can be found in women or men.

And when found in men, it does increase their lifetime risk of breast cancer higher than an average man. But their risk of developing a breast cancer is still quite low. An average American woman has a risk of about 12% in her lifetime. If you have a man with a BRCA gene, for example, his risk of having breast cancer is probably under 10% in his lifetime, so less than an average woman.

And for that reason, we don't always do the aggressive screening like with mammogram and MRIs in a man who has a breast cancer gene because the risk is still low. So we tend to, do more clinical exams, and not so much routine imaging, routine screening. And for that reason, if a man has a risk of less than 10% of having breast cancer in his lifetime, the prophylactic mastectomies would be excessive.

So we would think that the risk and everything that comes with having a prophylactic mastectomy would probably not be beneficial enough for a man.

Host Amber Smith: I was surprised that prophylactic mastectomy can lower breast cancer risk by 90%, but it doesn't guarantee that a person won't get breast cancer.

Can you explain why not?

Lisa Lai, MD: Yeah, that's a good question as well. And we always discuss this with patients. I would say that it lowers the risk by probably 90 to 95% so that if a patient does have a prophylactic mastectomy, they're probably looking at a 5% chance or less of having breast cancer. And that's because every breast cell is not removed with a surgery.

The breast tissue is mostly removed. but there's a careful plane of dissection that's done between the skin and the fat that needs to remain under the skin and the breast tissue. And it's a matter of trying to get as much as possible while not damaging the skin so that the patient can have good blood flow to the skin and heal well after surgery.

And there's probably a little bit of breast tissue that remains at the surrounding edges of the breast and maybe very scant amount that remains on the chest wall. And I don't know if that perfectly explains it, because there it could be other reasons that it develops down the line, like was there something microscopic there that wasn't known before surgery? But generally speaking, the majority of the breast is removed, but there's always that small chance.

Host Amber Smith: So if the majority of the breast is removed, and then the woman would not be having mammograms regularly because there's not tissue to do mammography with, how would a breast cancer be discovered in the future? If there were some stray cells, like under the collarbone or in the armpit, would it just be discovered by accident?

Lisa Lai, MD: These patients who are undergoing the surgery will usually continue following with us in our practice for at least a yearly exam.

And they may also follow with their regular doctors in GYN (gynecology), too, so clinical exam is still recommended and performed, and if any lump or difference is noted, imaging can be done. We'd never do a mammogram because there's no tissue to compress, but an ultrasound or an MRI could be done to investigate.

Most times we do that, we find scar tissue and postoperative changes. Now, rarely, in some cases we will kind of make an individualized screening protocol of someone after prophylactic mastectomy. So either for something in our judgment that we think warrants an annual MRI (magnetic resonance imaging scan) or a patient who would feel reassured by having an annual MRI, we'll do that sometimes for screening purposes, or an annual ultrasound (a type of imaging test).

And if they've had implant-based reconstruction, we will check the implants every few years with imaging to make sure the implants are still intact, and that allows them some additional imaging.

Host Amber Smith: Are there good alternatives for women who are at significant risk of breast cancer but who don't want to have their breast removed??

Lisa Lai, MD: Yes, absolutely. So, here at Upstate we have a high-risk program that is helping patients follow for clinical exams and imaging, patients who are either not ready for surgery or not eligible for surgery or just not interested in surgery.

Generally speaking, the women we want to capture for a surgery like this are probably between the ages of, I'll say, roughly 30 to 60. Obviously, if you're doing the surgery on much younger patients, they're probably having the surgery too soon in life. They're not at a very high risk at that point.

And then the converse is true. If you're doing this on a 70- or 80-year-old patient, they're clearly going to get less benefit because they have a shorter life span. So, if it's for that reason, or they're just generally not interested, or it's just not good timing in life, we'll recommend a very careful screening protocol, usually mammogram plus MRI each year for imaging and then clinical exams.

For some genetic variants, removing the ovaries may reduce risk, and, similarly, lowering estrogen may reduce risk. Some of these genes are associated with estrogen-fed type tumors, and if you lower the amount of estrogen, you can also reduce their risk of breast cancer somewhat, not as much as surgery, but to some degree.

Host Amber Smith: This is Upstate's "The Informed Patient" podcast. I'm your host, Amber Smith, and I'm talking with Dr. Lisa Lai. She's a breast surgeon at Upstate.

Now, how do you help your patients prepare for prophylactic mastectomy? Are there tests or imaging scans that are done before surgery?

Lisa Lai, MD: Yes, we'll do a clinical exam. Usually a mammogram and an MRI, maybe an ultrasound if we're looking for something specific, with the goal of making sure the tissue looks as normal as possible prior to surgery. Because if there is an abnormality, if there's a cancer, for example, we want to plan the surgery a little bit differently, in that we would do a lymph node biopsy in a breast with cancer.

But if we think it's a healthy breast, we usually will not do the lymph node biopsy at the time of surgery because it adds a lot of surgical recovery and benefits very few people. That being said, the breast tissue is always looked at by the pathologist once it's removed, but if there is an abnormality, it's always ideal to know about it before surgery and plan accordingly.

Host Amber Smith: Can you describe how the operation is done and how much tissue is removed?

Lisa Lai, MD: There's a couple different ways to do it. Usually when planning a mastectomy, the first thing we plan for is whether or not the patient wishes to have reconstruction, and if they are having reconstruction, how is that being performed?

And also timing of the reconstruction. Is it being done at the time of mastectomy? Is it desired, but not with the mastectomy, maybe desired a few years later for a particular reason?

So I would say that's the starting point, and based on whether they have reconstruction, we plan the incisions and whether skin and nipple are being saved for a reconstruction, or skin and nipple need to be removed because the desire is for the chest to be flat afterwards. So based on that conversation, we usually then start talking about what we think the scars will look like and how the surgical approach would be.

Host Amber Smith: So the patient really has to have a game plan for what they want to do longer term before you start the surgery.

Lisa Lai, MD: Right, yes. Like whether we need a plastic surgeon to be there or not. And, how we plan the incisions and closure. Now, they may not know that at the first meeting, so we can plan for a consult. They can gather more information, then we can meet again to confirm the plan prior.

Host Amber Smith: Do you typically remove muscle along with the tissue?

Lisa Lai, MD: No, we save the muscle. We remove just the outer lining of the muscle, called the fascia, but all the muscle is saved.

Host Amber Smith: And in prophylactic cases where there's no breast cancer apparent at this point, do you remove lymph nodes?

Lisa Lai, MD: Usually not. If we think that the breast is healthy and normal and there's no abnormality on our exam or imaging pre-op, then we will not remove lymph nodes because the chance of finding cancer is so low.

That would just add a lot of extra surgery and probably little benefit.

Host Amber Smith: Now, what is recovery from mastectomy like, and is it different for women who have a cancer diagnosis and have mastectomy compared with those who are doing it proactively?

Lisa Lai, MD: Having the surgery for cancer recovery could be a little more involved because of the lymph node surgery under the armpits, but it generally involves having drains for a couple weeks and coming to the office weekly and not being overly physically active.

In the beginning we were just wanting everything to heal inside, but then gradually increasing activity. Showering usually can happen a few days later, driving a few days later. once the drains come out, after, you know, maybe three weeks or so, then mobility usually increases, pain decreases, and they can slowly start getting back to usual activities.

Host Amber Smith: What are the drains used for? What are they collecting?

Lisa Lai, MD: The body will naturally put fluid into that empty space where the breast used to be, so the drains are helping that fluid get out, so it doesn't build up, and encouraging the skin to stick down and close the empty space.

Host Amber Smith: And then it's just a kind of a gradual ability to get back to your normal physical activities?

Lisa Lai, MD: Yeah, I mean, the really strenuous stuff, we might wait a couple months like for, you know, really heavy upper-body weightlifting and things like that. But, you know, in terms of household activities or return to work, I would say probably within four to six weeks, but there's always exceptions, too.

Host Amber Smith: Are you aware of any studies that show how women feel about their decision, say, 10 years afterward, whether they're glad that they had the operation?

Lisa Lai, MD: Now, I don't know about exactly the 10-year mark, but generally what the studies have shown is that patients are happy with their own decisions.

So, if they were strongly pushed in one direction, versus came to the conclusion themselves and proactively asked for a surgery like this, I think they're generally happy.

The thing about this type of surgery is that patients have plenty of time to think about it, so they can. Rather than having cancer, which can happen at any time, these patients have the chance to get multiple consults if they want, or to really, thoroughly research things if they want, or time the surgery for when it seems right in their life or for the right season because obviously no one wants to really put their brakes on in life to do something like this. So there's never really a great time.

But, I think these patients are generally very happy. And again, most of them came to attention for something like this because of their relatives having cancer. And I think they can refer to those experiences that they've seen their loved ones go through to be able to see how they really want to avoid that as much as possible.

And I think to be able to sign up for an elective surgery like this, go through it and get results back that there was no cancer and go on with life, I think that's very reassuring to them.

Host Amber Smith: Let's talk about reconstruction. How do you help a woman decide if she wants breast reconstruction?

Lisa Lai, MD: I'll usually discuss an overview and about the different types of reconstruction and also the timing, like will it be done at the time of the mastectomy, or is it desired later on? And, if there's any glaring concerns, like someone who medically may not be a good candidate, or any other reason, I'll help them.

Generally, I'm very open about referring to a plastic surgeon and gathering information with either good online resources or handouts, pictures, actual patient photos and just generally explaining the options while also guiding them to whoever else they may need.

Host Amber Smith: Do you have patients who are OK with having a flat chest or who prefer a prosthesis instead of reconstruction?

Lisa Lai, MD: Oh, yeah, absolutely. There's a term called "aesthetic flat closure," where the chest is closed nice and flat, without excess skin, avoiding any kind of loose or extra tissue that could be there, so closing it very carefully. And, some really great advocacy groups for that, patient-led groups who've gone through the surgery and chose to have a flat chest. You see them in the media sometimes. They sometimes have fashion shows, and these are women that are very proud to be flat and will very openly share that with others. That group of patients, to me, seems incredibly happy with their decisions, so I think it's a good choice for some, but it's a very specific group of women who felt that desire.

Host Amber Smith: Well, this has been very informative. I appreciate you making time for this interview, Dr. Lai.

Lisa Lai, MD: Oh, thank you so much, Amber. It was my pleasure.

Host Amber Smith: My guest has been Dr. Lisa Lai. She's an assistant professor of surgery at Upstate, specializing in breast surgery. "The Informed Patient" is a podcast covering health, science and medicine, brought to you by Upstate Medical University in Syracuse, New York, and produced by Jim Howe. Find our archive of previous episodes at upstate.edu/informed.

This is your host, Amber Smith, thanking you for listening.