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As we work toward preventing and curing breast cancer, the research we fund is transforming real lives today. From the woman with an inherited BRCA gene mutation who now can minimize her risks of developing the disease, to the doctor discovering how the intricacies in a patient's tumor will affect her treatment, each day—and dollar—brings us closer to our ultimate goal.
From an early age, Belgian researcher Dr. Martine Piccart-Gebhart was drawn to medicine, not only because of her interest in science but also due to unfortunate circumstances.
“When I was a teenager, my uncle developed colon cancer,” she said. “I visited him at the Jules Bordet Institute [a cancer hospital in Brussels], where I now work and head the department of medicine, and an inexplicable feeling came over me.”
Dr. Piccart-Gebhart decided then and there to go to medical school and focus on oncology. Years later, she returned to that same hospital after her mother was diagnosed with breast cancer.
“Her illness was a great motivation for me to become interested in breast cancer research,” she said. “My mother was saved by early research; she received chemo and was on Tamoxifen, and her breast cancer never returned.”
Today, Dr. Piccart-Gebhart is tackling two areas of breast cancer she feels are just as critical as the advances that saved her mother—scientific collaboration and metastasis, or the spread of cancer.
Dr. Piccart-Gebhart is invested in promoting collaboration among European countries to study the difficult questions that science still needs to answer. She founded and chairs the Breast International Group (BIG), an international consortium of research groups.
“The genesis of this group was the huge problem faced by European researchers—there is virtually no government funding for clinical trials here,” she said. “It makes us highly dependent on the pharmaceutical industry.” The problem is funding comes at a price. “We often want to answer questions that are of high interest to patients and clinicians but not to drug companies,” Dr. Piccart-Gebhart said.
Strong collaboration is essential to decrease this reliance on industry and, more importantly, drive advances in crucial areas of research. “We now know that 'breast cancer' is five or six different diseases. As a result, we should no longer design studies for all breast cancer patients, but for subpopulations of them. Because these studies will apply to small percentages of women sharing common profiles in their tumors, joining forces will be even more critical to progress,” Dr. Piccart-Gebhart explained.
One of the most exciting projects to emerge from research collaboration is AURORA, an international program run through BIG and the Translational Breast Cancer Research Consortium, and largely supported by BCRF’s Evelyn Lauder Founder’s Fund. This unprecedented study is designed to substantially improve the lives of patients with metastatic breast cancer. “It’s time to really invest our energy and better understand advanced breast cancer,” Dr. Piccart-Gebhart said.
The European arm of AURORA launched in 60-plus hospitals in 15 countries with more than 1,300 women and men participating, but the goal is to broaden the study to other continents. AURORA aims to expand on what science has already discovered and eventually lead to better treatments and, ultimately, cures for breast cancer.
Researchers have already identified genetic aberrations, or changes, within breast cancer tumors. When breast cancer spreads its genetic changes are different from when the disease first appeared.
“Our hope is that we can map what happens at the beginning of metastasis and understand the genetic changes that occur over time,” Dr. Piccart-Gebhart said. “We can then become more clever at treating the disease and developing treatments.”
And thanks to the rapid expanse of technology in cancer medicine, researchers can dissect a tumor’s genome, study changes in individual tumor genes and sequence DNA more inexpensively than ever, she is confident AURORA can produce life-changing discoveries.
“We can already propose targeted therapies for some women, but AURORA goes beyond that,” Dr. Piccart-Gebhart said. AURORA’s results will enable scientists to understand why breast cancer metastasizes and why standard treatments work for some women and not others.
“We will know at each interval of the disease what is happening to a woman, what works and how long it will take to work, what the next treatment should be and where the next site of disease is,” Dr. Piccart-Gebhart said. "We’re going to learn the entire history of advanced breast cancer to develop treatment that will prevent metastasis from ever starting.”
Putting AURORA’s discoveries into practice will be the pinnacle of success for Dr. Piccart-Gebhart. “These are the most exciting times, when we can close the gaps from what we discover in the lab to what we can do in the clinic with patients.”
It was just two days before Christmas 2011 when Darby Stott, 40, was first diagnosed with breast cancer. At the time, her diagnosis wasn’t uncommon: stage 2, HER2-negative, estrogen- and progesterone-receptor positive, breast cancer. She went through chemotherapy, surgery and radiation and, less than a year after her diagnosis, she was finished with treatment and thought to be in remission.
“I thought breast cancer was in my rearview mirror,” Darby said. “I was just trying to get back to my life.” To find her new normal, Darby jumped back into her running exercise routine. Darby, who had run the Boston Marathon several years earlier, knew her body was capable of putting in the miles but lacing up her sneakers proved more difficult than she remembered. It was her first clue that something wasn’t right. “I knew my body, and it wasn’t working right. My doctor said, ‘Be patient. Recovery takes a while.’ So I hired a personal trainer. That’s my version of patience,” Darby laughed.
But when she began experiencing pain in her abdomen, Darby quickly scheduled an appointment with her primary care doctor, who discovered with a routine blood test that her liver enzyme numbers were high, an indication that her liver may not be properly functioning. “I was concerned,” Darby said. “The numbers were elevated during my chemo treatment, but not to this level. I knew there was something wrong and I needed answers. I didn’t feel right.”
Darby reached out to her physician, BCRF grantee Dr. Eric Winer, at Boston’s Dana-Farber Cancer Institute immediately. “I emailed Dr. Winer at 9:45 on a Monday night and said, 'Here are my liver numbers. I might be overreacting, but I’d like your take on it because it doesn’t seem in line with my history.' It’s a testament to his dedication as a clinician as well as a researcher that by 10:15 p.m. he had replied saying, ‘It’d be highly unusual for this to be anything, but let’s get you in for a CT scan.’”
Darby quickly underwent a new series of tests to determine the cause of her elevated liver levels. “We got them all done in a bit of a rush because I was leaving on a trip to Italy with some friends to celebrate being cancer-free. That was ironic,” she said wryly.
That week, Darby learned her breast cancer had come back and metastasized to her liver. What was even more unusual than having her cancer return in six months was that it came back as triple negative, an entirely different subtype of the disease.
“When you look back at my original chart, I responded well to chemo. My actual tumor pathology had so many estrogen receptors that it seemed like Tamoxifen was going to stave off any future cancer. I was really very confident that it wouldn’t return. Too confident. But cancer’s smart, and it changed to come back.”
After making its way into Darby’s liver, the cancer metastasized in her lungs and bones as well.
For Darby—and the thousands of other women with advanced stage breast cancer—research is having a real, tangible effect.
“Research is important to me because when you’ve just learned that you have a limited time to be around—probably more limited than you expected—you have to choose how you want to spend that time. And while I’m here, I want to live,” she said.
“For me, one of the most promising things about research is how I am benefiting from past research. My aunt passed away from breast cancer in the late ‘90s. My life has been extended almost a year by drugs that weren’t available when she was alive two decades ago.”
Clinical trials are another part of research that encourage Darby. “They have the potential to give you access to something that could work for your body and extend your life,” she said.
“Research is enhancing the personalization of treatment. When you have treatment that targets the cancer cells versus all cells, it has different side effects. It’s easier to bear and increases your quality of life. Having chemo and laying on the couch hoping for one good day every two weeks isn’t necessarily a life a lot of people will take on. But if you have a drug that enables you to function most of the time, that makes all the difference in the world.”
While she is happy for those women who have successfully beat cancer, Darby recognizes there is much more to be done. “Breast cancer is one of the most treatable forms of cancer. For over 80 percent of breast cancer patients, that’s the truth. But there are about 40,000 people a year who die because of breast cancer, making it the second most deadly form of cancer for women.”
And because that crucial piece of the breast cancer puzzle—why the disease spreads and kills—hasn’t been solved yet, Darby places her faith in research.
“We haven’t figured out how or why breast cancer metastasizes yet. But research is the only thing that’s going to prevent my fate from happening to others.”
Editor's Note: It is with great sadness that we share the news that Darby Stott passed away from metastatic breast cancer on September 12, 2014. Darby was one of BCRF’s biggest research advocates and an instrumental member of our Boston community. Darby recognized that scientific and medical advances are the only way to stop this disease from taking more lives, and we’re humbled that she chose to share her story with us. This year, we have named a grant in Darby's memory and Dr. Alan D'Andrea of the Dana-Farber Cancer Institute will be the recipient.
As obesity grows into a global health concern, scientists are uncovering the links between the disorder and a host of health ailments, from high blood pressure to diabetes to kidney and pancreatic cancers. But a connection between obesity and breast cancer wasn’t on the radar until Dr. Andrew Dannenberg began studying the problem.
A trained gastroenterologist who studied the digestive system and its disorders, Dr. Dannenberg has devoted a considerable amount of his career to inflammation in the body, his research focus. So how does a gastroenterologist become an expert on obesity’s relation to breast cancer? Chalk it up to a curious mind.
“Chronic inflammation of many organs is linked to an increase in malignancy,” Dr. Dannenberg said. “Since 2003, the science community has known that inflammation can occur in adipose—or fatty—tissue throughout the body. When other investigators discovered this, it set off a major effort around the globe to understand the link between inflammation and a variety of diseases, but I noticed that no one was looking at how inflammation related to the biology of cancer, particularly breast cancer.”
Seizing this untapped opportunity, Dr. Dannenberg turned his attention to the breast, an ever-growing trend in the research community. “Given the rapid increases in technology and knowledge, it’s increasingly common for investigators to see opportunities in other fields, shift gears and then rapidly make progress.”
Dr. Dannenberg and his colleagues, including Dr. Clifford Hudis, Chairman of BCRF’s Scientific Advisory Board, began examining the relationship between obesity, body fat and breast cancer—and learned quite a bit.
Obesity causes inflamed adipose, or fatty, tissue throughout the body. When these enlarged fat cells die, they cause an inflammatory reaction. Because the breast contains significant amounts of fat, which surround the epithelial cells that give rise to breast cancer, the group demonstrated that obesity was associated with inflamed breast tissue.
This fatty tissue includes molecular changes that are known contributors to the development and progression of breast cancer. Inflamed fatty tissue is also associated with changes in a person’s blood that might contribute to the disease. This discovery allows researchers to evaluate new approaches to reduce breast cancer risk or slow down its progression, such as altering a person’s diet or lifestyle.
The next step for Dr. Dannenberg and his team is to develop a reliable blood signature for breast inflammation, which would provide a way to non-invasively test whether a woman has an increased risk of breast cancer. But, for this ambitious researcher, that’s not enough.
“Our goal is to determine whether or not we can reverse this process of obesity and fatty tissue. Then we can figure out a way to inform people of what they can do at home [to reverse it],” he said. “We’d like to reach a point where we’ve learned enough about the science of exercise to prescribe and make available to people around the world. We want to solve problems that will ultimately improve public health. And we’ve moved the bar with BCRF’s help, but we have much more to do.”
While he knows he has an unorthodox background among breast cancer researchers, Dr. Dannenberg found BCRF’s support invaluable.
“I know that without BCRF, this wouldn’t have been accomplished,” he said. “We wouldn’t have had the resources or flexibility. We couldn’t have been so bold.”
“Breast cancer has been part of my life from my first memories through today. It’s something I’ve always lived with.”
For 41-year-old Kara Council, there’s been no escaping the disease. Her mother died of breast cancer during her early 30s, when Kara was just three-and-a-half years old. “It was six months between diagnosis and passing,” Kara said. “It was very advanced by the time she was diagnosed and she had a difficult treatment course. Doctors today tell me that the treatment she received then would never be done now—it was barbaric, but this was in the early ‘70s. There was still so much that was unknown about breast cancer.”
After her mother’s passing, young Kara became the focus. Doctors then didn’t know how cancer spread through familial genes and, because of her mother’s unusually aggressive disease, thought a childhood cancer might materialize in Kara.
Fortunately, it didn’t—but that wasn’t Kara’s last encounter with cancer. At 16, with her father’s consent and with support of the U.S. Air Force where he was a general, Kara participated in a National Institutes of Health study that aimed to isolate breast cancer markers in women. Kara’s family history made her a unique case; every woman on her mother’s side had been diagnosed with breast cancer by this point.
“My mother, grandmother, great aunt and great grandmother—they all had breast cancer by the time I turned 16,” Kara said. Looking at the landscape of her family’s history and the three generations affected by the disease, each diagnosed younger than the last, led doctors to believe that Kara’s destiny wouldn’t be any different.
“Because the diagnosis age in my family was getting younger and younger, the doctors believed I would have breast cancer by the time I was 25,” Kara said. “It was traumatic hearing that at 16 years old, but almost stoic. I felt it was my fate.”
Going through adolescence with a cancer cloud hanging over her head was no small task for Kara. “I went through this period in my early 20s where I just wanted to stick my head into the sand,” she said.
But her body, like life at times, had other plans for Kara. Just a few months shy of turning 25, Kara found her first breast tumor. “It took a week of me knowing it was there before coming to terms with it and reaching out to my physician. I was in surgery four hours later.” Although the tumor was benign, doctors warned Kara that her breast cancer risk wasn’t.
“They called me a trashcan full of grenades,” she said, shaking her head. “My body was ready to go off, and it wasn’t a matter of ‘if’ but ‘when.’ So after having my tumor removed, I volunteered to participate in the first round of a genetic testing clinical trial.”
Kara knew the tests would confirm what she’d been told all her life—she was predisposed to breast cancer. “But even with everything I had known, I thought, ‘Maybe I don’t have it. Maybe I’ll get lucky.’”
As expected, Kara tested positive for the BRCA1 gene mutation and, though it wasn’t a surprise, she was still shocked.
“Now I had more confirmation and more knowledge than ever,” she said. “Genealogy of where the mutation came from and what it meant for my chance of getting the disease. I’d always been told cancer was my fate and now it was confirmed.”
But Kara wasn’t going to let breast cancer win, no matter what her genetic tests said. “I wasn’t ready to accept those,” she said with a smile.
“I knew I wanted to have a prophylactic mastectomy to improve my chances of not getting breast cancer. I wanted to make the choice myself but I also wanted to make sure that, medically, I was being thoughtful.”
After meeting with various doctors, Kara made her decision. “The last doctor told me, ‘If you were my daughter, you’d have this surgery.’ I knew then that I’d have the procedure. This man was saving my life and this surgery would give me the opportunity to beat the disease.”
But Kara’s breast cancer journey was far from over. It was 1998, long before Angelina Jolie made double mastectomies a topic of conversation at the dinner table, before news anchors like Robin Roberts and Amy Robach went public with their breast cancer diagnoses. There was no one for Kara to turn to for advice.
“I was doing this in an era when no one else was. I was given Playboy magazines at the doctor’s office to pick out the breasts I’d want for reconstructive surgery,” she said. “All these beautiful women with all these beautiful breasts—it makes you feel less secure and beautiful than you already do at the moment.”
Dealing with all the changes to her body wasn’t easy either. “It’s hard losing your breasts, but it’s harder losing your sense of self,” Kara said. “Those are the moments you try to validate to yourself and say, ‘I did do the right thing. I did make the right choice.’ It forces you to learn what’s important about yourself as a person.”
As she was learning to accept her new body, Kara faced outside pressures as well. “I call that the beginning of my judgment and choices journey,” she said. “So many people passed judgment on my new breasts and me without knowing my situation or the choices I faced to save my life.”
“The things that people said to me were so unbelievable that I quickly realized the need to provide some advocacy. I wanted to let other women know they had choices, they were normal, they could decide for themselves, and there could be life after surgery.”
Kara began speaking with others facing similar decisions, answering emails from strangers, even being photographed for reconstructive surgery books to help feel women feel better about themselves and their choices when the day comes to make that tough decision.
“I’m sitting here today when I had so many people tell me I wouldn’t be. I feel blessed but also responsible for doing something for the cause.”
Today, Kara is thrilled that women may have more options than she did as research grows more sophisticated and medical procedures and treatment options continue advancing.
“I’ve felt the evolution. If I was several years older, I probably wouldn’t have had the option of prophylactic surgery and I might not be sitting here today. And if I was several years younger, I might not have needed to take such drastic measures,” Kara said. “But we make the best choices we can with the options we have available at the moment. I’m proud of my choices and experiences, but I hope that no one has to choose at all in 10 or 20 years.”
Sandy Yellin was no stranger to breast cancer. Her maternal grandfather had been diagnosed with the disease, one of the rare one percent of cases that occurs in males. Her maternal grandmother, too, had breast cancer and died from it at just 42 years old. “I always thought I might get breast cancer,” Sandra said. “But when I was diagnosed, I was still shocked out of my mind.”
Diligent about screening due to her family’s history, Sandy wasn’t worried when, at 54, she noticed her breast looked dimpled and uneven. “I thought it was cellulite. It looked just like what was on my thighs,” she laughed. “I’d been told to look for changes in my breast as part of self-examinations, but my doctors always mentioned discoloration or a lump—never an indentation.”
It wasn’t until Sandy’s next mammogram in May 2001, six months after she’d first noticed her “breast cellulite,” that she learned something was wrong. “It turns out I had breast dimpling, something I had never heard of before,” Sandy explained. This dimpling is often a sign of breast cancer and can indicate a tumor near the upper layer of the skin. It was true in Sandy’s case. She was diagnosed with stage 2, estrogen-receptor positive cancer. Her doctor ordered a biopsy lumpectomy during which they found Sandy’s cancer had spread to her lymph nodes. They were removed in June and, just two months later, Sandy began chemotherapy.
“I chose a very aggressive course of treatment,” Sandy said. “I lost my hair, which was such an emotional, devastating feeling. It wasn’t easy. Chemo made me a bit phobic. I was nervous about going out and doing things. I would wake up in the middle of the night feeling sick and worried.” After her chemotherapy, Sandy began rounds of radiation. Despite the difficult treatment, Sandy realized she was one of the lucky ones. “I received treatment and I didn’t need a mastectomy,” she said. “In my grandmother’s day, that was routine. She had one, but she still died. Today, with the advances that have been made in research, my doctor knew it wasn’t necessary for my personal situation.”
After finishing radiation, Sandy spent four years on Tamoxifen, an endocrine therapy used to reduce the chance of breast cancer recurrence. She then spent four years on Aromasin, an aromatase inhibitor often prescribed after several years of Tamoxifen to reduce recurrence rates. The drug made her bones weak but it was worth it, she said. “I went through it all but now I look great, I feel fine and I’m happy.”
Sandy values the chemotherapy treatments that helped knock out her breast cancer—and the medications that have kept it from returning. Today, she calls herself a poster child for breast cancer support as she lends a sympathetic ear to friends and community members who have been diagnosed. “I tell them the things I learned during chemo that the doctors don’t tell you,” she said. “I tell them how tired they’ll be or how going to the bathroom regularly might be a struggle. I help them feel like they’re not alone.”
The one thing Sandy is quick to remind women about is the importance of regular mammograms; after all, the one she had at 54 saved her life. “Every year, I go for my mammogram and I still get nervous. Last September, they found something, but it was just a calcification. It’s scary, but you have to do it,” she said.
Relying on genetic testing to determine your breast cancer risk isn’t enough, Sandy said. After her diagnosis, she was tested for the BRCA gene mutations. And while breast cancer runs in her family, she tested negative. “There are hundreds of genes that can cause breast cancer,” she said. “Just because you test negative for the ones we know of doesn’t mean you’re not positive for another.”
Sandy has been breast cancer-free for 13 years. She’s an active member of Play for P.I.N.K. and, while she knows there are no guarantees the disease won’t return, she strives to live in the present. “There’s always that feeling that it could come back and that you’re not totally safe. But you can’t walk around with a cloud over your head,” she said. “So I push it away and live my life happily, being the best person I can be. Because breast cancer is something that happened to me, but it doesn’t define me.”
Most young women aren’t too concerned about breast cancer—it’s something that happens to older women. But 31-year-old Samantha Golkin Nigliazzo knew that wasn’t always the case. The disease had been on her radar for years.
Samantha’s mother passed away from the disease when she was only seven; her aunt before the age of 35; and her maternal grandmother had a mastectomy during her 50s. So for Samantha, screenings were a routine, if not altogether common, part of life since her early 20s. Unfortunately, because of her age, it wasn’t always the easiest process.
“I had a breast specialist who wrote me prescriptions to get mammograms and sonograms because of my family history,” Samantha said. “Even with prescriptions, it was very difficult for me to get appointments at screening locations or to secure payments from insurance companies, because I was young. Facilities wouldn’t want to schedule me because of my age.”
Luckily for Samantha, a sympathetic radiologist referred her to the Special Surveillance program at Memorial Sloan Kettering Cancer Center after learning about her difficulties securing appointments. The long-term program, designed for women with an increased risk for developing breast cancer, offers participants a variety of breast imaging options and support. With her wedding just four months away, Samantha, with support from her fiancé David, decided to go ahead with a baseline screening before the big day.
“We wanted to have a clean bill of health before we started our new life together,” Samantha said.
So in August 2013, Samantha went in for a mammogram and her first-ever MRI as a form of secondary screening. Both showed a small spot in her right breast about the size of a pencil tip. Her doctors asked Samantha to return for a spot mammogram and biopsy, from which they discovered the small cluster of cells were malignant.
“The doctors told me, ‘we found some malignant cells. It’s cancer,’” Samantha said. “Because of my family history, it wasn’t a shocking piece of information. I was diagnosed with stage 0 cancer, also known as ductal carcinoma in situ [DCIS, the earliest form of breast cancer]. It was because of breast cancer research and advancements by scientists and doctors that something so miniscule and microscopic—just cells in a duct—was detected.”
It didn’t escape Samantha that her diagnosis might have had a different outcome not too long ago.
“My mother could have had this same early diagnosis twenty years ago if they had the advances in reach research we have now,” she said. “If it wasn’t for intensive MRI and mammography screenings, those cells could have turned into invasive breast cancer for me, too.”
Samantha and David immediately weighed their options.
“As soon as we found out Samantha was diagnosed, my thoughts were, ‘What’s the next step? What are we going to do to get rid of this?’” David said.
The couple focused on their ideal end result—a cancer-free Samantha—and decided to do everything they could to make sure she got there.
“The cancer was detected at the earliest stage and we took the most aggressive course of action to combat it,” Samantha said. “I had a double mastectomy a week after my diagnosis. I opted for that procedure because I have an increased risk of recurrence in my right breast and developing breast cancer in the left breast. By undergoing a double mastectomy, I was able to drastically lower that risk and give myself a higher likelihood of a breast cancer-free life.”
David’s support was instrumental to Samantha as they made some of the toughest decisions of their life together.
“My main concern was how Samantha was dealing with everything—not just the physical part of the double mastectomy, but the emotional aspect of it as well,” David said. He was with Samantha each step of the way, attending appointments with her and spending hours patiently waiting during her surgery. “The hardest part was sitting in the waiting room,” he said.
His support made a tough time a little easier to face for Samantha. “As a woman, your breasts are an important part of you, part of your femininity,” Samantha said. “David’s always made it a point to tell me how I’m beautiful and keep me positive. In those times that I was doubtful, he was there to reinforce how much he loved me.”
The ultimate testament of David’s commitment came later. Before her diagnosis, Samantha had been training for the New York City Marathon. “When I was diagnosed, what I was most upset about wasn’t the cancer or the surgery,” she said. “It was that I couldn’t run the 2013 NYC Marathon. But after my experience, David, despite not being a runner, decided to run it with me in 2014.”
On November 2, 2014, the couple is lacing up their sneakers and running with The Pink Agenda to raise money for BCRF. “We’ll be raising money for breast cancer research in honor of all those who have breast cancer, those who have lost their lives to breast cancer, those who will fight the disease and for the people who support them,” Samantha said. “We’re getting in shape and celebrating health and life.”