Breast Cancer in Young Women: What We Know and Reducing Risk

This podcast episode is made possible by Lilly.

Welcome to The Breastcancer.org Podcast, the podcast that brings you the latest information on breast cancer research, treatments, side effects, and survivorship issues through expert interviews, as well as personal stories from people affected by breast cancer. Here’s your host, Breastcancer.org Senior Editor, Jamie DePolo. 

Jamie DePolo: Hello. I’m Jamie DePolo, senior editor at Breastcancer.org. I'm podcasting live from the 2024 San Antonio Breast Cancer Symposium. According to a study published in JAMA Network Open in January, breast cancer diagnoses have steadily increased in women younger than 50, with larger increases in recent years. In 2000, the incidence of breast cancer among women ages 20 to 49 was about 64 cases per 100,000 women.

Over the next 16 years, the rate increased slowly, about 0.24% per year, but by 2016, the rate was 66 cases per 100,000 women, but after 2016, rates went up dramatically, increasing by nearly 4% per year. By 2019, the rate was 74 cases per 100,000 women.

I'm joined by Dr. Matteo Lambertini, associate professor of medical oncology and consultant in medical oncology at the University of Genova-IRCCS Policlinico San Martino Hospital in Genoa, Italy.

At this conference, he chaired a session on breast cancer in the young and also presented results from a study showing that women with a BRCA mutation, diagnosed with breast cancer at age 40 or younger, who had a prophylactic mastectomy, prophylactic ovary and fallopian tube removal – called salpingo-oophorectomy by doctors – or both, had lower rates of recurrence, secondary breast cancer, or ovarian cancers, as well as death in women who didn't have these risk-reducing surgeries.

He's going to talk to us about breast cancer in young people. Dr. Lambertini, welcome to the podcast.

Dr. Matteo Lambertini: Thank you. Thank you very much for having me. It's a pleasure.

Jamie DePolo: So, I'm not sure if we know this, but are there any ideas why more young people are being diagnosed with breast cancer?

Dr. Matteo Lambertini: Unfortunately, we don't have a reply to this question. If we go back to the risk factors for breast cancer, so genetic factors on one side, and the environmental factors on the other side, health style factors, as well, it's probably a mixture of them. In terms of genetics, we are doing a lot. So, we know that more genes, other than BRCA, are associated with an increased risk of breast cancer. Probably, we will know more in the next future, if this could be a potential explanation as well on the presence of other genes. So, genes other than BRCA, mutation in BRCA, that may increase the risk of breast cancer, but unfortunately, so far, we don't have a clear explanation on why this is happening.

Jamie DePolo: Okay. Thank you.

Now, some of the issues faced by young people with breast cancer are very different than those faced by older people. So, I'm wondering if you could talk a little bit about the most troublesome?

Dr. Matteo Lambertini: Yeah, we tend to say that there are age-related issues in the care of young patients with breast cancer, and what we mean by age-related issues is, consideration on, like, throughout the cancer care trajectory, meaning from diagnosis, treatment, and survivorship. Probably, the critical one, they are the one that we have addressed yesterday in the session here at the San Antonio Breast Cancer Symposium.

For the treatment part, the endocrine therapy, which is probably the most complicated and more complex decision that we have to make, different in young as compared to older women, and among them, ovarian suppression as adjuvant endocrine therapy is probably the most complicated decision, and indeed, there was half-an-hour lecture on this topic at this conference, even though this is a treatment that we have in clinical practice since many years now.

And the other point, that was also the focus on the final lecture in the educational session here at San Antonio, are survivorship issues, with the main focus on fertility and pregnancy, which, of course, are relevant to young patients and not to post-menopausal or older patient, but also, other survivorship issues may be particularly relevant for the young patient population, and speaking, for example, about sexual dysfunction, bone health, cardiovascular health, as well.

Jamie DePolo: And I know, with some of the young women I've talked to, there's even just the basic issue of support groups, because many people in breast cancer support groups are older, because that's most of the people that are diagnosed, and they said they felt very out of place, and you know, maybe they were worried about having kids where everybody else was not. So, it seems like that whole issue of support could be a problem, too?

Dr. Matteo Lambertini: Yeah, there are patient advocacy groups that are very strong, also, in the field of breast cancer in young women. So, we'll definitely refer to their activities and also their educational material for the issues more related to the care of young patient, but I think that a lot has been done in the past years, particularly in the field of fertility and pregnancy, something that maybe 10, 15 years ago, was not so common to discuss.

Now, it's something that has become much more widely available, and there is more knowledge around this topic, and also, oncologists and breast oncologists are more comfortable and confident to discuss the subject that has been a taboo for many years. Say, no, you had a breast cancer, so you cannot have a baby for the rest of your life, which is something that, now, has been clearly demonstrated. It's not the case. So, it is possible after proper treatment and follow-up. So, what I want to say is that a lot has been done. There is still a lot to do.

I will refer to a patient advocacy group with a main focus on breast cancer in young women, and of course, with the oncologist or the treating physician are the people that can refer a young patient to the right people for special counseling. For example, when I discuss fertility and pregnancy issues, maybe not all of them are being discussed by the oncologist, but we need the support of a fertility specialist. So, a gynecologist that is trained into that subject, but it’s still the oncologist that can help young patient to refer them to experienced colleagues in other fields that may be relevant for their care.

Jamie DePolo: That makes sense, and I do have to note that both you and Dr. Ann Partridge have been responsible for pushing the field of pregnancy in young women with breast cancer forward. Both of you have done some groundbreaking work. So, thank you for that.

Dr. Matteo Lambertini: Oh, thank you. It has been an honor to work with Ann Partridge. Ten years ago, I had a fellowship with her at the Dana-Farber Cancer Institute, and since then, we have done, also, a lot of work together, and I’m proud to call her as my mentor, yeah.

Jamie DePolo: Excellent. Now, the results you presented this morning showed that preventive surgery to remove the breast, ovaries, and fallopian tubes reduced the risk of dying and developing another cancer in young women with a BRCA mutation who also had a history of breast cancer.

Now, we know that, among Black women who are younger, in their 20s, 20 to 29, rates of breast cancer are increasing even more than they are among white women, and so, I was just wondering about the diversity in your study. I know it was worldwide, but can we apply the results that you found to all races and ethnicities?

Dr. Matteo Lambertini: I will say yes, even though we did not collect this information, unfortunately, as part of the study. This is something that we are planning, with an amendment next year, to include. Originally, there was only one center from the US, the center from Ann Partridge, as part of the network, but now that we have many more centers from the U.S., this is definitely something that we need to explore more in depth.

So, we hope to have an answer to this question in the coming years, but I think that the most important message, and I've tried, also, to highlight that in my conclusion, is not to use these data to counsel all BRCA carriers, because the target population in our study is very special. These are women that have developed their first breast cancer at a very young age, so below the age of 40 years, and all of them are BRCA mutated.

So, there are two important risk factors. One is mutation in BRCA, and the other is having a breast cancer below the age of 40 years. So, when there are these two conditions together, then the risk of a second primary breast cancer, of a second primary ovarian cancer, is higher than the general population. So, these data on the huge benefit, survival advantage of these risk-reducing surgeries that have been observed, it does apply only to the special patient population.

Jamie DePolo: Okay. That makes sense. Now, could you put the results in context for us? When you go back to your clinic on Monday or Saturday or Sunday, whenever you go back, how are you going to use them? And what do you say to a young woman who wants to have children? You know, obviously, there are risks and benefits to every treatment. How do you put this in context?

Dr. Matteo Lambertini: So, in terms of the risk-reducing surgeries, the way I'm going to use the data, again, is for a special section of women, BRCA carriers, and with already being diagnosed with breast cancer at a young age. So, in this case, for the risk-reducing salpingo-oophorectomy, so the gynecological surgery, we have clear guideline that should be done between the age of 35 to 40 years in BRCA1 carriers, 40 to 45 in BRCA2 carriers, and I think these data further reinforce this concept on the…really need to have this surgery at this young age, despite all the issues, psychological issues, the sexual dysfunction, the infertility, all these concerns that can be addressed separately, but for the survival advantage, it's really important to counsel them to undergo this procedure.

For mastectomy, the counseling is a bit more complicated. The data that we have shown, I think, that will reinforce the counseling on the need, or the strong indication, to have a risk-reducing mastectomy in this special clinical setting.

In the overall population of BRCA carriers, this is not so straightforward, but in this special clinical setting, I will reinforce the importance of undergoing, also, risk-reducing bilateral mastectomy.

Jamie DePolo: And I do have one question about your study. The women in the study, they had already been diagnosed. So, could some of them have had a single mastectomy or lumpectomy as part of their treatment, and then, what you looked at is, did they then have...if they had a lumpectomy, then a prophylactic double, or a single if they'd had a mastectomy.

Dr. Matteo Lambertini: Not all the patients were known to be BRCA carrier at diagnosis. Maybe they've done the test a year or two years or more years after breast cancer diagnosis. We know half of them received the testing before or within six months after diagnosis, but the other half received during the follow-up or after primary treatment. So, yes, around 40%, 38% of the patients, for their primary breast cancer, received conservative surgery, and the other 60% received mastectomy, but it's unilateral mastectomy. What we call risk-reducing mastectomy is bilateral mastectomy.

Jamie DePolo: All right. Thank you, and then, finally, breast cancer screening guidelines, at least most of them, I believe the youngest age they suggest is starting at age 40. Given all that we know, these higher number of cases, what would you like young women to know about screening, and do you ever foresee a time when it might be recommended that screenings start earlier than 40?

Dr. Matteo Lambertini: So, yes, screening is not recommended below the age of 40, unless there are other risk factors that will increase the risk of breast cancer, and for these risk factor, I'm referring, again, to BRCA pathogenic variants. In this case, the screening definitely start at a much earlier age than 40 years.

Jamie DePolo: But you have to know that you have that.

Dr. Matteo Lambertini: Exactly. Yeah, or you have other cases in which you have a similar risk as BRCA carrier. For example, women that were exposed when they were children, they were exposed to radiotherapy in the chest at a very high dose. In these cases, the risk is very similar to those of BRCA carrier. So, in these cases, there are screening programs that should be followed with MRI, with ultrasound, and mammography to be done over time.

For women from the general population, without these risk factors, there is no screening below the age of 40 years. It's very important, self-palpation [breast self-exam], which is something that should be done, and in the case there is something being felt at palpation, it's very important to have a consultation with a general practitioner or a physician that can refer this patient, if needed, to a radiologist that may do an ultrasound and check this nodule.

Jamie DePolo: Okay. So, basically, it's the same advice, but it's like know your own breasts. Like, be aware of any changes. Don't discount any changes no matter how young you are. Go to the doctor.

Dr. Matteo Lambertini: Exactly, and this includes those women during pregnancy. Even though it's rare, but it's possible to have a diagnosis of breast cancer while a woman is pregnant. In these cases, also, from our side as physician, there has been a lot of, I will say, misconception in the past.

Say, you’re, like, not really referring these women to have an ultrasound and check if this nodule may be a breast cancer, and so, the diagnosis was done at a much-advanced stage in the cases during pregnancy. So, yes, it's possible to have at a young age, even below the age of 40 or 30 years. Even in the case of pregnancy, if you feel a nodule, it’s better you discuss that with your physician.

Jamie DePolo: Dr. Lambertini, thank you so much. I appreciate your time.

Dr. Matteo Lambertini: Thank you very much. It's a pleasure to be part of this podcast.

Thank you for listening to The Breastcancer.org Podcast. Please subscribe on Apple Podcasts. To share your thoughts about this or any episode, email us at podcast@breastcancer.org, or leave feedback on the podcast episode landing page on our website, and remember, you could find out a lot more information about breast cancer at Breastcancer.org, and you can connect with thousands of people affected by breast cancer by joining our online community.