“Breast Cancer, Part 2: Screening and Mammograms” – with guest Dr. Christina Weltz

In the second part of Dr. Weltz and Dr. Fox’s discussion on breast cancer, they cover treatment and therapies, improving recovery rates, and why breast cancer screening remains important.

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Dr. Fox: Welcome to today’s episode of “Healthful Woman,” a podcast designed to explore topics in women’s health at all stages of life. I’m your host, Dr. Nathan Fox, an OB-GYN and maternal-fetal medicine specialist practicing in New York City. At “Healthful Woman,” I speak with leaders in the field to help you learn more about women’s health, pregnancy, and wellness.

 

Why haven’t mortality rates dropped? Why are women doing better? How much of that is due to improved screening versus improved treatments or therapy? I mean, obviously, it’s both but do you think it’s more in the screening end or more in the therapy and or is it more equal?

 

Dr. Weltz: It’s more on the therapy end.

 

Dr. Fox: Really?

 

Dr. Weltz: Yeah, and this, again, kind of reflects this concept that breast cancer is multiple different entities. The real improvements in the treatment of breast cancer have been a reflection of the realization that there are so many significant differences, for example, between estrogen-positive breast cancer versus estrogen negative, or what’s called HER2-positive breast cancer versus HER2-negative and the development of treatments, so-called targeted treatments that really focus on what makes a certain breast cancer unique, and therefore, what is the best way of treating that particular type of breast cancer?

 

So those type of therapies unequivocally have been the most important breakthroughs. And the reason that fewer, so many fewer people are dying of breast cancer. There’s no question that early screening is incredibly beneficial. But the more that we learn about the different biologies of breast cancer, the more that we realize that even if detected a little bit later, if a targeted therapy is going to work well, it’s going to work well whether the disease is detected at a very small size versus a somewhat larger size. And I’m not trying to in any way negate the importance of screening, it is extremely important and it definitely is a major contributor to why women are surviving breast cancer so much better than they used to, but there’s no question that improved therapies are the number one reason.

 

Dr. Fox: That’s so interesting, and I think part of it may be germane to the question I’m gonna ask you next, which is, why is there so much controversy over when to start and how often to do breast cancer screening on women? I mean, like, it’s unbelievable. It’s like trying to pull out of Afghanistan, it’s like…Every organization has a different recommendation. I mean, the OBs say one thing, the breast surgeon says something else, cancer says something else, the family medicine says…everyone’s all over the place.

 

Dr. Weltz: I know.

 

Dr. Fox: Is that just because it doesn’t really make a big difference? Or is it because of the way people balance being too aggressive and doing too many biopsies versus not aggressive enough and missing cancers, and that’s sort of subjective, why is that?

 

Dr. Weltz: The main reason is that when groups get together to study this disease from an epidemiologic point of view and from the point of view of the importance of early detection, the way in which they look at the disease is very, very different from the way that you or I would look at it, or very different from the way a breast cancer advocate would look at it, or very different from the way that a media person or someone in politics would look at it. So for example, in the past, the NIH, the National Institutes of Health have convened groups of really smart people who can sit down and look at the population numbers and get a sense of the frequency of breast cancer diagnosis relative to women’s ages and do the most sophisticated epidemiologic studies asking the question whether women getting mammograms in their late 30s or early 40s really pays off on a population level. And those studies have usually gone in the direction of saying that the lives saved is not justified by the expense of screening every woman in that age group.

 

Dr. Fox: When you say expense, do you mean expense, dollars, or expense, like also time, pain, anxiety, things like that?

 

Dr. Weltz: Both. Dollars and false positives, biopsies that otherwise didn’t need to be done, the very difficult to measure and, I think, overemphasized anxiety that a false positive image can bring out. And looking at those numbers, based on huge, huge population-based numbers have very, very often come out with the recommendation to start mammographic screening not in your 30s, or even in your 40s, but perhaps as late as age 50. And when those recommendations have been released, it’s very, very normal to understand how horrified people would be. As a breast surgeon, I treat women in their 20s and 30s and early 40s all the time. And if one were a politician weighing in, for example, on those recommendations, and maybe you had someone in your family or you know someone who was diagnosed with breast cancer because they had a mammogram at age 40, you’re going to say that this is utterly ridiculous. So it almost, sort of, becomes analogous to when you hear about what airlines do and how they make a determination as to whether a safety measure should be introduced, even if it’s extremely expensive, based on the number of lives that could or could not be saved. It just sounds absurd that money and politics and those type of things really should come into play.

 

But at the same time, when it comes to making screening policies, which are major public health issues, saying that every woman at age 40 should start getting mammograms, the people who are making those recommendations have to make that based on things that just don’t make sense to someone who knows someone who was diagnosed at age 38 with breast cancer and perhaps could have had a better outcome if they had been diagnosed earlier. At the same time, it’s also important to realize that this studies often are behind the times.

 

So for example, when the NIH convened, I believe, in the early ’90s and came up with recommendations that led to the U.S. Preventative Task Force, for example, recommending starting mammograms at age 50, things had already changed, more women were being diagnosed with breast cancer at younger ages, early interventions in treatment of breast cance were showing success. And so, often the epidemiologists are out of phase, if you will, with what’s going on with the disease. But I think with any screening, whether it’s mammogram, Pap smear, colonoscopy, those who are making the recommendations have a bit of an unpopular job, if you will, because they may well make recommendations that are horrific to someone who has known someone that was diagnosed at a young age.

 

Dr. Fox: The people making these recommendations. I mean, they’re great. They’re doing exactly what they’re instructed to do, which is look at the numbers and come up…it’s almost a mathematical equation of where you draw the line. Because I mean, if you think about it, sort of in a broader perspective, in theory, you could tell every woman starting at age 15, get a mammogram every day right? Okay, like we’re gonna pick it up daily, which is obviously, everyone would say, absurd. So the question is, where is the line that you draw? And they have to look at lives saved, and cost, and this, and again, cost meaning a lot of different things. And I think that’s fine. And, you know, they make the recommendations they make.

 

But I think what’s so often missed in these types of guidelines and recommendations…and it’s missed because people will pick up on them. And by people, I mean, insurance carriers will pick up on it, hospital systems will pick up on it, medical students being taught will get taught these things. The recommendations are not intended to be nuanced. They’re just like, “Okay, in a population, this is the best place to draw the line.” But when we talk to patients individually, it needs to be nuanced because every person is different in terms of…

 

Dr. Weltz: Absolutely.

 

Dr. Fox: …what is her risk factor? So we know, okay, in an obvious case where someone’s a very high risk of breast cancer for some reason, okay, everyone agrees you have to change the bar. But it’s not like binary, it’s not like you…you know, there’s different ways to be at increased risk. And also different people feel differently. We talk about, we screen all the time in pregnancy, and some people are of the opinion of, “I’d much rather screen as early and often as possible. I can deal with a false positive because I get the reassurance that I can go to sleep at night knowing we’re not gonna miss something. And for me, that’s what’s gonna make me feel the most secure.” And someone else may say, “These tests are driving me crazy. I can’t sleep at night because I’m so worried about them. I don’t go to sleep at night worrying about breast cancer, whatever it is, I’d rather be on the other end.”

 

And those are both quite legitimate ways to go in an overall sense of who they are as people and their overall wellness are both quite reasonable. And you can’t put that in a recommendation, it doesn’t exist. It’s not possible. And also, the things like they’re looking at lives saved. But someone might say, “Well, if I have two women who both get breast cancer, and they both have surgery, and they both survive and live to the same age, they’re looked at as the same in these outcomes.” But if one of them had a tiny lumpectomy, went back to work a week later, never did tell anyone, didn’t need reconstructive surgery, and the other one had a double mastectomy, reconstruction, in and out of the hospital, had a complication. Her course, no one would prefer that course even though at the end, they’re viewed the same in these recommendations. And again, it’s not the fault of the people making them, they just can’t have that granular level of information when making a recommendation for a whole country.

 

Dr. Weltz: I couldn’t agree more. Let me give you just a couple of examples related to breast cancer that I think illustrate exactly what you’re saying. I think it was eight years ago, I may be wrong, but that the U.S. Preventative Task Force came out with very controversial recommendations about screening mammography that were very different from the American College of Radiology, the national OB-GYN groups, breast surgery groups, etc. And their recommendation was to start screening at age 50. There were also recommendations talking about older women to do mammographic screening every other year as opposed to on an annual basis. And I read their report about 10 times trying to understand what they were saying. Again, some of the language is difficult if you don’t have a background in population-based public health.

 

But nevertheless, one of the things that they emphasized in their report was that mammographic screening often picks up ductal carcinoma in situ, and ductal carcinoma in situ is breast cancer but it’s what we call stage zero breast cancer because with ductal carcinoma in situ, the cancer cells are caught so early that they are still contained inside of the ducts that run throughout the breast tissue. And these cancer cells can be as aggressive or as non-aggressive as any actual invasive breast cancer. But because the cells are contained inside of the ducts, they are trapped, if you will. And at that stage of diagnosis, there’s no potential for metastasis, the cells cannot get into the lymph nodes, they cannot get into the body and the disease, therefore, is completely curable.

 

So there are many things about ductal carcinoma in situ that we have yet to discover, most importantly, why ductal carcinoma in situ evolves into invasive breast cancer. In their report, the task force emphasized the concept that because there’s a lot that we don’t know about ductal carcinoma in situ and because mammographic screening often picks up ductal carcinoma in situ, we can’t support mammographic screening in that it’s detecting something that we have a lot of questions and unanswered issues about, which is the most ridiculous thing imaginable.

 

Dr. Fox: Yeah, you would say that’s a win. We picked up this when it’s treatable.

 

Dr. Weltz: It’s, like, a huge win.

 

Dr. Fox: Like, that’s exactly why we screen.

 

Dr. Weltz: Totally. And you know, as someone who treats women with breast cancer, the difference between in situ and invasive disease is absolutely day and night, night and day.

 

Dr. Fox: In terms of treatment?

 

Dr. Weltz: In terms of prognosis.

 

Dr. Fox: Prognosis also.

 

Dr. Weltz: Really, in terms of prognosis and treatment. And it’s sort of a little bit of another story. There are many women who have ductal carcinoma in situ who need to have mastectomies. So it’s a little bit of a paradox that early, early-stage doesn’t always translate into lesser surgery. But very, very important that these women do not need chemotherapy, they do not have to worry about, again, the lymph nodes containing cancer, they do not have to worry about the possibility of what we’re ultimately trying to avoid and treat against is the development of breast cancer that leaves the breast and metastasizes into the body, that cannot happen with ductal carcinoma in situ. So for this group of people from multiple different specialties to fail to understand that type of thing and advocate for later and less frequent screening because this ductal carcinoma in situ thing is confusing to them is absurd.

 

And I think another example also relates to what you were just saying, for example, in the use of screening and testing during pregnancy. You’ll read in these various reports that the anxiety…that there’s a huge cost to the anxiety of a woman having a mammogram and being told that she needs a biopsy and that biopsy is done and results in a benign finding, which is of course what we’re hoping for. And these reports will try to quantify that so-called cost as a major factor in making their screening recommendations. And of course one doesn’t want to have any screening tools that’s set up for high numbers of false positives.

 

But again, having treated many, many women who have gone through such a process of having a biopsy because something was detected on a clinical exam or a mammographic exam that turned out to be benign, people, as you were just saying, could not be happier. And so to say that that kind of emotional cost is a reason not to screen is also really judgmental, I think, and somewhat misogynistic, I think, and really missing the point. So those would be, I would say, two examples of how screening public policy recommendation makers often miss the point of the reality of what’s going on.

 

Dr. Fox: I’m gonna make you put on your working for the senator hat again. How much of this do you think is related to just people missing the boat, which happens all the time in the world, versus traditionally? And I don’t know if it’s the same now or not, you tell me, the people making these recommendations were all men and the people receiving them are all women?

 

Dr. Weltz: Yeah, that’s a really good point. I mean, I would say that that’s a very big part of it. And I would say, for example, that this concept of the emotional cost of needing further evaluation for a screening finding really smacks of, kind of, oh, these hysterical women, how are they…we can’t put them through this, they can’t handle it. It really is somewhat reminiscent of that. And I think that really would be a good example of that, this concept…

 

Dr. Fox: Is it still that way? I mean, are the numbers still the same? I would imagine that they’re different. But I mean, I just don’t know, like, in terms of in your specialty, or people…expertise in cancer, I imagine there’s a much higher percentage of women now than before, but I just don’t know if it’s….

 

Dr. Weltz: Oh, yeah. In terms of specialists treating the disease?

 

Dr. Fox: Or the people making these policies and decisions, I just don’t know what the numbers are.

 

Dr. Weltz: Oh, yeah. It’s changed dramatically. I mean, it’s a really fascinating history, from the point of view of what evolved in the treatment of breast cancer really was a reflection of what was going on in American society. Prior to the feminist movement of the early 1970s, the dogma in the treatment of breast cancer was that everybody got a radical mastectomy. And part of the issue is that back then, in the early 20th century up until the 1980s, again, women without the benefit of screening were presenting with very locally advanced disease, and we did not have the chemotherapy treatments and the hormonal treatments that could shrink locally advanced disease and open the opportunity for smaller surgeries to be done. So the radical mastectomy where the entire breast and all of the underlying muscles and all of the surrounding lymph nodes were removed was really the only available option for the treatment of breast cancer.

 

But the problem that evolved was as there was more awareness and as there was more screening and as there were more treatment options systemically, things got to the point in the 1970s and early 1980s where many male surgeons, and of course, the vast majority of surgeons then were male, were sticking to this concept that they knew best and that every woman diagnosed with breast cancer should be treated this way, and women started to rebel against this. And there are some remarkable figures in American history of a woman named Rose Kushner, a woman named Audrey Lord, these were people who spoke out and challenged their surgeons and said, “Look, in Europe, for example, I know that lumpectomies are being offered instead of mastectomies. I’ve got a small tumor, I caught it, it was caught very early. And why are you telling me that I must have a radical mastectomy?”

 

The change that occurred at that point and brought us to a point where we are now that most women are able to be treated with lumpectomy as opposed to mastectomy largely came from patients and patient advocates and feminists speaking out and challenging the status quo. And it’s an absolutely fascinating history. But things changed dramatically then, and I think have only gotten better in that regard, almost to a point that it may have sort of gone a little bit too far if you know what I mean.

 

Dr. Fox: Right, yeah. That could happen. Yeah, I mean, I remember when I was doing my surgical rotations and we were doing the mastectomies. And I remember that was a time, again, the same thing where there was more of this sentinel lymph node dissection, and you’re trying to get less and less aggressive and invasive, if possible, right? If it’s appropriate, obviously. And it’s so interesting. I mean, when we’re talking about screening, because we do this in our worlds of pregnancy, and it’s not cancer screening, but like we do a lot of screening, like genetics with a fetus. And it’s the same concept that you can do more and more and more screening, for one person, it may increase their anxiety, and for another person, it may decrease their anxiety. And I’ve always found it’s really easy to figure that out. You just ask her. I mean, it’s like most people know who they are. I tell them this and they’re like, “What do you think I should do?”

 

And I say, “Listen, there are sort of two strategies we can do. One is to be more aggressive with testing and screening, and one is to be less.” And I go over why one would choose one or the other. And I say, “It’s really a personality decision for most people.” I say, “You know, yourself better than I know you. So like, you tell me, which one of these two people are you?” And most people like, “Oh, I’m that one, like, oh, I’m definitely that one.” And great, there’s your answer. And I think that’s the same thing for cancer screening, do you wanna have a colonoscopy early, or on the earlier side of what’s sort of like reasonable, you don’t wanna go too far with this, versus on the later side? Your mammograms, do you wanna start early or do you wanna start late, or how frequent?

 

And it’s not like we’re asking someone to, like, map out their medical care for their life. We’re just saying, like, “Tell me who you are. Like, what’s important to you? What are you afraid of? What keeps you up at night?” And, again, I say, “You sound like someone who probably we should screen starting a little bit earlier, a little more frequent, and you sound like someone, who probably we should go a little on the other end of it.” And those are both appropriate. And I think that, obviously, like bodies, like insurance carriers have a very hard time with stuff like this. And even doctors, when we’re training, they’re very much like, “This is the guideline, this is what I do.” And I think that it’s very hard to teach medical students and residents how to have those conversations and sort of get a little bit of wiggle room with these lines in the sand and to be comfortable with that.

 

Dr. Weltz: I totally agree. I mean, in terms of breast screening, a really good example of that is the use of MRI, magnetic resonance imaging is for the breast the ultimate screening from the point of view is that it is a more sensitive X-ray than mammogram and/or ultrasound. It can pick up cancers that clinical exam, self-exam, mammogram, and even ultrasound could not possibly pick up. And yet, the problem with MRI is that it’s expensive, insurance carriers are reluctant to pay for it unless it fits their criteria, it is a longer X-ray, it’s not the most fun X-ray in that you have to lie in a fairly tight machine on your stomach for about 40, 45 minutes. It does require dye so a small butterfly needle has to be placed in order to inject the dye. So, it doesn’t really in any way fit screening criteria for population-based screening.

 

But for women who are at very high risk women who carry BRCA mutations and women who have had breast cancer in the past who need more intensive, more sensitive screening moving forward, it is the way to go. And it’s exactly as you were saying, in discussing with a woman, for example, who’s undergone a lumpectomy and is going to be followed carefully over the years, do we add a yearly MRI to supplement their yearly mammogram or not? Some women might say, “I couldn’t stand having that MRI, I’m never going to do it again.” And I think that’s absolutely part of the equation. And some women would rather say, “If there is an imaging modality that could pick something up, whether it’s a recurrence or a new cancer, as early as possible, yes, I’m all for it,” then I think that women should have the yearly MRI and I have those conversations with people all the time. And I completely agree with you that guidelines and algorithms play a role, but you have to understand who the patient is and what makes sense for them. And I could not agree with you more.

 

Dr. Fox: Yeah, and sometimes, listen, the reality that sometimes insurance won’t cover this, sometimes people are like, “All right, I’ll pay for it. Like, I pay to do a lot of things in the world to make me feel better, make me happy, give me whatever, and this is gonna be it, okay,” like it’s not…the insurance carrier is just dictating who’s paying for what, it doesn’t dictate what’s appropriate or not. And this is complex, obviously, with health care. But these are adults, people make decisions all the time about what they do and what they don’t do on a risk they take and what they spend their money on. And to just not allow them that, what we call autonomy, the control over their own decisions is just, it’s a problem.

 

Dr. Weltz: Totally agree. And I also find, I mean, I realize the insurance people, they’re in a tough position too, everybody is, but I do find when I get on the phone with the insurance people and explain the situation to them, the same reason that might make a given woman more inclined to want that annual MRI reflects something related to her history or the nature of her prior cancer, if applicable, that when I explain that to the insurance carrier for what it’s worth, often they’ll hear you and they’ll, sort of, make a way of working around their guidelines that makes it work if you get a nice one.

 

Dr. Fox: I’m curious, I’m sure, our listeners out there and women are…because they’re getting different messages from all over the place. What do you recommend in terms of sort of baseline, average risk woman, no other factors coming into it? When do you recommend women start, number one, self-breast exams, if at all? You may say, “I don’t recommend that at all.” Number two, breast exams by doctors. And number three, imaging like mammogram, for example. Again, this just your baseline, obviously, it could change based on a lot of things.

 

Dr. Weltz: Sure, absolutely. So for the average woman, if you will, not someone who we worry about a genetic predisposition or a BRCA gene in the family or something of that nature, working kind of backwards, mammograms, I agree with the recommendation to start screening at age 40. And I agree with the recommendation that it should be done yearly. And one issue that comes up not infrequently is what to do when women get older. A lot of times geriatricians, internists, and gynecologists have to struggle with the question of if you have a woman who is well into her 80s, should she continue to get yearly mammogram or not? These are, again, situations that I think have to be determined on a case-by-case basis, taking into consideration individual patient medical issues, etc. And I think that has to be judged, but I feel that annual screening at age 40 is the right thing. And I do not agree that screening should start at age 50 as that one taskforce had recommended.

 

In terms of clinical exam, I agree, the general recommendation…the recommendations are a little bit vague because there’s data in various directions related to the efficacy of clinical exam in picking up breast cancer. And again, that relates to what I was talking about earlier in that doing a clinical breast exam is so incredibly challenging, particularly in premenopausal women who have relatively much denser tissue. But I think that women in their 30s in doing their yearly visits to their internist and/or their gynecologist absolutely should be getting clinical exams, even though we do know that there can be things missed and we know that there can be things detected that require, again, imaging workup, possibly biopsy, but I think it’s all for the best.

 

Self-exam is probably the trickiest. Current recommendation for self-exam is against doing it, which is such a seemingly bizarre recommendation given the fact that up until recently, the most common way in which breast cancer was diagnosed would be a woman finding a lump in her own breast. So it seems very bizarre and contradictory given that to tell women that they should not do monthly self-breast exam, which is the current recommendation. Again, the reasons for that recommendation are hard to justify scientifically. It’s a very…it’s one thing to do a study where you take a population of 100,000 women and half of them get annual mammogram and half of them do not get annual mammogram and you wait and see what the ultimate mortality from breast cancer is and the difference that mammographic screening can make. Those are tricky studies to do but they are doable. Very, very difficult to do studies looking at the efficacy from a screening point of view of self-exam.

 

But part of the reason that that recommendation exists is that these studies have actually been done and have shown that doing breast self-exam does not translate into saving lives from breast cancer. They were interesting studies that were conducted in China during the 1970s. And in that setting, screening mammography was not available, and clinical exam, I don’t really know how available or how routine it was. But the study design was to take tens of thousands of women who worked in factories, textile factories in China, and not only did they work there but their entire lives revolved around the factory, they lived there, etc., and half of the factories provided intensive education about doing breast self-exam. It taught women how to do it, it taught them when in the month they should do it. It had reminders you would take a shower and there would be a poster hanging in the shower, “Have you done your breast self-exam?” So it did everything it could to encourage women to do breast self-exam.

 

And then the other half of the factories there was nothing said or no education provided about doing self-breast exam. They had a control, for what it’s worth, of teaching women how to avoid lower back pain as, sort of, an instructional study design control. And basically, what the study showed was that there was no difference in dying of breast cancer between the two groups. It was found that the women who did the self-breast exam were diagnosed with a slightly earlier stage of breast cancer, but even that wasn’t statistically meaningful. And so that study, which again, not an easy study to design or conduct, basically negated the concept that self-breast exam is a meaningful thing to do.

 

I find, in my practice, that so many women will say to me that they don’t do monthly self-breast exam and they feel guilty about it. And I, sort of jokingly but truthfully, tell them, “You’re not alone, most people don’t do it.” But again, it is weird and confusing that is the recommendation in the practice given that a lot of women do find their own tumors, including high-risk women who are being screened radiographically and clinically fairly intensively. So that the caveat, for example, in the American Cancer Society recommendation is that while we don’t officially recommend that doctors advocate that their patients do monthly self-breast exam, we do think it’s important that if a woman were to come across something that they find in their breast, they should immediately go to their doctor and report it. So it’s a little bit fudged the way that the recommendation is worded, but that’s sort of the rationale behind it and it’s a little confusing.

 

Dr. Fox: I guess, I’ve naturally told women the same thing. And when they ask me about, “Should I be doing my own exam?” I said, “Listen, as far as we know, it doesn’t have a huge impact on what’s gonna happen in your life.” But I say like, “You know what your breasts are like more than your doctor does. So if you notice, either visually or you feel something that’s different or new, just let us know about it.” And again, we’ll examine you, if you need imaging, we’ll do it.” And I’ll say, “Usually, it’s fine. Rather have a false scare then miss something. It’s okay. So you come in, we’ll take a look.” And we’ll go there just because who’s gonna have a better sense of whether there’s a change than she would? And so I guess that’s sort of how it ends up being with the recommendations anyways that, don’t ignore it, but it doesn’t mean you have to go searching for it every month.

 

Dr. Weltz: And I completely agree with the way you’re depicting it. And, again, one of the reasons that clinical exam is so difficult is that there are types of breast cancer, most notably invasive, what’s called invasive lobular breast cancer, that really don’t form discrete masses, but rather form a very subtle change in the density of the breast tissue. And that is something that a woman might appreciate because she lives with her own breast that a physician, or a mammogram for that matter, may not be able to detect. So really, the flip side of all of this is that if a woman describes a change, a subtle change in the thickness or the density of her breast tissue, take it seriously because they know their breast far better than any doctor or any radiologist would. And such a finding really does need to be evaluated and taken seriously. So kind of like, whichever way you go, the recommendations are paradoxical, contradictory, etc., etc. But again, common sense has to prevail.

 

Dr. Fox: Right. And how would a woman know if she’s at higher risk of breast cancer from what we’ve been talking about, sort of the average risk woman, what would be a clue to her?

 

Dr. Weltz: The most powerful factor that we know about currently, and probably ever will know about, are genetics, and the most common best known about are the BRCA mutations. Women who have inherited a BRCA mutation are at extraordinarily high risk of getting breast cancer, as high as a 70% or 80% lifetime risk of getting breast cancer, which is obviously completely out of line with the normal 12% lifetime risk of getting breast cancer.

 

Dr. Fox: Is that true even if they don’t have a strong family history, I mean it just was picked up sort of randomly, that they have the mutation or do we not know that?

 

Dr. Weltz: It wouldn’t matter how the mutation is detected. If you do have that mutation, that is the level of risk that you, unfortunately, are under. The thing about the BRCA mutations, they’ve gotten a huge amount of attention, obviously stories about Angelina Jolie and other celebrities who carry these mutations and chose to get prophylactic mastectomies and prophylactic oophorectomy. They are great media stories and people wanna hear about it and read about it. And I think they’ve overinflated people’s concept of how common these mutations are. Fortunately, these mutations are rare, but they are incredibly powerful. We worry about families where women are getting breast cancer particularly at younger ages. We worry about families where women are getting ovarian cancer. We know from studies that if any individual woman has had a history of both breast and ovarian cancer, her risk of carrying such mutation is as high as 75%. We worry about families where men have gotten breast cancer. Male breast cancer is very, very rare, and that has to be taken into consideration.

 

We know that the BRCA mutations are more prevalent in people of Eastern European Ashkenazi Jewish descent, that is the population that is most affected by these mutations. And there are other pockets of the world that also have a high prevalence of these mutations, parts of Scandinavia, Iceland, and other parts of the world. But if I see a woman, for example, who tells me that multiple women have gotten breast cancer and multiple women have gotten more than one breast cancer, ovarian cancer, etc., particularly if of Ashkenazi Jewish background, such a woman absolutely should undergo genetic testing to determine if she carries a BRCA1 or 2 mutation because they are such meaningful patients from a breast cancer point of view, an ovarian cancer point of view, as well as other cancers, including prostate cancer in men, melanoma, pancreatic cancers, certain GI cancers as well. But that’s when we worry about these things.

 

There’s actually been a push recently recommending that every woman diagnosed with breast cancer should have genetic testing. I don’t necessarily agree with that recommendation, I think it should be done selectively. But I think the most tragic thing that we see are women from families where the family history is highly suggestive of a mutation and where there’s a reluctance for testing to be done either because the individual or the family doesn’t want to know, or because the practitioner isn’t aware that it should be done, or probably one of the most common reasons, namely that genetic counselors are few and far between across the country. And you know, it can be really, really hard to get a patient in to meet with a genetic counselor to review the family history and send off the genetic testing and interpret and report the results. So there are many deficiencies in detecting these mutations. I’m hoping very much that over time, those will be overcome.

 

Dr. Fox: Let’s say someone is at an increased risk for breast cancer, either family history, genetic screening, both, and obviously, there’s no one recommendation because you have to individualize it based on how increased her risk is. But are you seeing a lot of women who are undergoing prophylactic mastectomies, like what you were describing earlier, is that something you have many patients who have that or it’s really rare in your practice?

 

Dr. Weltz: Many.

 

Dr. Fox: Really? Wow.

 

Dr. Weltz: Particularly with the BRCA1 and 2 mutations, more so BRCA1 mutation. Once a woman has undergone testing and is found to carry a mutation, you’re absolutely right, there is no official recommendation or guideline as to whether she should pursue prophylactic mastectomy or if she is going to pursue it, at what age. There are guidelines about screening, we do start the MRIs that we were talking about earlier as early 20s. We certainly, in your field, very strongly recommend consideration of oophorectomy by early 40s. But with regard to the breast, there are no official recommendations.

 

In facing these decisions, a lot of issues often come into play. Women, for example, who lost a mother to breast or ovarian cancer and inherited a BRCA gene, for example, from that mother, I find, and the literature supports this as well, tend to opt for early prophylactic mastectomy, whereas women who had not experienced that type of personal loss are somewhat more comfortable with screening. I do find also that when women who carry BRCA mutations who are undergoing intensive screening are found to have a breast cancer, and since they are undergoing such intensive screening, these tend to be detected very early, thank goodness, Ido find in my practice that the vast majority of such women will choose to have bilateral mastectomy. There…

 

Dr. Fox: Right. Meaning in theory they could be treated with something less aggressive. They’re like, “All right, you know A plus B, I’m done, it’s time to do it.”

 

Dr. Weltz: Yeah, exactly.

 

Dr. Fox: And either at the same time or sometime shortly thereafter, they get reconstructive surgery, plastic surgery, and sort of the cosmetic, so to speak, outcomes tend to be very, very good. That doesn’t minimize the operation, but it’s part of that process.

 

Dr. Weltz: Yes, and we recommend doing it simultaneously, which is great from the point of view of minimizing surgery. I think most important from the point of view, the emotional point of view of not having to wake up from a bilateral mastectomy without some form of reconstruction. So I think emotionally it plays a huge role and it has been so, so important. Not to minimize by any means the difficulty and the trauma of undergoing the bilateral mastectomy, never an easy thing, though you do see a very wide range of women’s reactions. There are women who…forget about even prophylactic mastectomy, there are women who are diagnosed with breast cancer, who need mastectomies, who will not undergo the surgery, and even realizing that their life could be at risk, they will not have the surgery done on the other…and that gets into some interesting psychological aspect of the whole situation. On the other end of the spectrum, I have women who inherited a BRCA mutation who walk in my office at age 23, 25….

 

Dr. Fox: Let’s do it.

 

Dr. Weltz: And say, “I’m ready to do it. Can we do it next week?” And so there’s a huge range in attitudes toward it. I think another thing that’s challenging in young women is how a woman who carries a mutation juggles their risk together with the prospect of childbearing.

 

Dr. Fox: Sure.

 

Dr. Weltz: So many things come into play. Obviously, if one chooses to have the prophylactic mastectomy early, women are going to worry about being deformed. Is anybody going to want to be with them? Obviously, breastfeeding is absolutely off the table. And on the flip side, if a woman who has a BRCA mutation wants to delay prophylactic mastectomy until they’re in a relationship, until they’re in a marriage, until they’ve had children, they are nevertheless facing the possibility of being diagnosed with an aggressive breast cancer at a young age. And obviously, the consequences of that are huge and very far-reaching. So very, very difficult situation for those women making those decisions at a very young age where decision-making in and of itself is never easy.

 

Dr. Fox: Yeah. And again, which is why when someone’s making these decisions, like we said earlier, what do they want, they don’t need a doctor who’s the meticulous artist in terms of her hand-eye coordination. They want someone who’s caring, and knows how to talk to people, and knows how to read people, knows how to understand, and that’s something, some of it’s innate, some of its learned, but it’s people who are drawn to that tend to be good doctors with this. It’s so important.

 

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