All in the family
When Tara raised concerns about her family’s cancer history, she took the first step in saving her sister Nicole’s life
By Heather Gibson
On a fall day in 2012, 35-year-old Tara Smalley was watching "The View" when Barbara Walters introduced a topic that grabbed her attention — breast cancer screening.
"I started thinking about it. A lot of people in my family have gotten cancer very young, and my grandmother on my dad’s side had breast cancer."
When she told her doctor about her family’s cancer history, Tara was quickly referred to the Marvelle Koffler Breast Centre (MKBC) at Mount Sinai Hospital, part of Sinai Health System, to have her risk assessed. Because of their strong family history, she and her sister, Nicole, were both eligible for early screening, including both mammograms and breast MRIs.
Annual screening quickly became a reassuring routine. So 44-year-old Nicole Smalley-Lester had no worries when she walked into the MKBC for her appointment on February 6, 2017.
That started to change on February 7, when Nicole’s family doctor called on behalf of the MKBC staff team. Nicole’s mammogram had been clear, but her MRI detected a suspicious mass.
"She told me it was probably nothing,” Nicole recalls. “But the fact that they reached out so quickly made me wonder."
When Nicole returned to Mount Sinai the following week, she learned that the mass was a tumour, and that it was almost certainly cancer.
On February 21, she was officially diagnosed with aggressive stage 2 “triple negative” breast cancer — a type of tumour that needs to be treated with aggressive chemotherapy instead of more commonly used breast cancer drugs. Nicole remembers her surgeon, Dr. Jaime Escallon, advising that they needed to start treatment quickly: "He said triple negative is a tricky one."
Nicole says she will never forget the moment she shared the scary news with her two boys Logan (now eight) and Tristan (now 10).
"Tristan tried to be very brave,"" Nicole recalls through tears. "But Logan was trying really hard not to cry, and asked if my cancer was 'the dying kind.' I couldn’t say anything, I just shook my head 'no.'"
She hoped she was right.
Searching for the trigger
After Nicole’s diagnosis, both sisters underwent a blood test to look for genetic mutations that increase cancer risk. The test found that both women have a CHEK2 mutation, which is estimated to double or even triple breast cancer risk, and could also boost their chances of developing other cancers.
"The majority of breast cancers are not caused by inherited genetic mutations," says MKBC Genetic Counsellor Carolyn Piccinin. "But in Nicole’s case, given her young age, her diagnosis with triple negative breast cancer and her strong family history, we suspected that we might find a cancer-causing mutation. Because our genetics team works closely with the high-risk breast screening program, we were able see her for genetic testing quickly after her diagnosis, and identified the CHEK2 mutation."
That same mutation would also pose an ongoing risk to Tara’s health, as well as any other carriers within the family. So once the mutation was found in Nicole and Tara, the MKBC genetics team encouraged them to speak to their parents about getting tested.
Knowing where the mutation came from would help others in the family to make informed health decisions.
The family learned Nicole and Tara’s dad, Mike Smalley, also carried the genetic mutation.
"When I told Nicky and Tara I was the carrier, I felt an immense amount of guilt," says Mike. "I’m no stranger to cancer. My mother had breast cancer twice, my father died from liver cancer and my brother had leukemia and died at 44. But for some reason it’s completely different when it’s your child."
"Guilt is very, very common when parents find out they passed a mutation to their child," says Piccinin. "As genetic counsellors, we try to explain that we don’t have any control over what genes we get or what genes we pass to our kids."
Fortunately for the Smalleys, advances in technology and research have improved genetic testing. Not long before Nicole and Tara were tested, the standard genetic test only looked at two genes linked with breast cancer — BRCA1 and BRCA2. Had the sisters been tested then, their tests would have come back negative.
"For more than 20 years, most genetic testing for familial breast cancer looked at only BRCA1 and BRCA2," says Piccinin. "Now we know there are many genes that can cause an increased risk of breast cancer, and we can offer multi-gene panels that include these newer genes like CHEK2. With panels now becoming standard practice, we’re also learning more about what mutations in these genes mean for women and families."
Scientists and genetic counsellors at the MKBC are collaborating on a new research project to screen the entire genome of patients who have had cancer and have a strong family history of cancer — spanning all of an individual’s roughly 20,000 genes. It’s hoped that even more genes linked with cancer risk can be identified through ground-breaking research like this.
"Genetic testing is constantly improving. People who tested negative just a few years ago might have a more accurate result if they got tested today. And people who test negative today might get an even more informative result in five or 10 years when we know more. We encourage all our patients to keep in touch to make sure they’ve had the most up-to-date test available," Piccinin adds.
The impact of more advanced genetic screening is potentially lifesaving for patients like Nicole and Tara whose genomes contain important information about their future health. "If I hadn’t been getting early screening at Mount Sinai, my cancer wouldn’t have been found until it was too late," says Nicole.
Planning for her future: Tara’s story
Nicole was quickly booked for surgery to remove the lump in her breast. The whole family was focused on her upcoming procedure. Like her parents, Tara was terrified for her sister. But she also felt a growing anxiety about her own health.
"The moment Nicole was diagnosed, everything changed," Tara recalls. "I couldn’t help but feel the day would eventually come when my mammogram would find cancer too."
Tara knew her lifetime risk of developing breast cancer was at least two or even three times higher than the average woman. The day she had her mammogram — coincidentally, the same day as Nicole’s surgery — she realized she wanted to take control of that risk.
After her exam, Tara dropped into the MKBC to ask the team about whether she’d be eligible for a prophylactic double mastectomy, the surgical removal of her breasts to prevent breast cancer.
"A preventative mastectomy is a very big decision and is not a one-size-fits-all choice, but at Tara’s level of risk, it is an option and she was quite motivated to pursue it," says Piccinin. "We referred her to a surgeon to talk with her and help her make her decision."
"To some people it sounds dramatic, but for me, it was an easy decision to make," says Tara, who has since undergone both a mastectomy and breast reconstruction.
"All my friends get annual mammograms, and I’ll never have to do that again. But I know a few women who have been diagnosed since my surgery and I’ve had moments of feeling guilty that I got to make that choice."
While Tara was getting the last mammogram she would ever have, Nicole was prepping for her surgery.
But when it came time to map the tumour’s margins for a precise removal, the ultrasound technician paused. Nicole’s breast had more masses than her mammogram and MRI had found.
Nicole’s scheduled surgery was a lumpectomy — intended to remove just her tumour while leaving the rest of her breast intact. In the final minutes leading up to her procedure, Nicole and Dr. Escallon discussed their choices. While Nicole realized she’d feel safer if Dr. Escallon removed her entire left breast, it was a dramatic shift in their original plan.
The surgery went smoothly. But Nicole woke up feeling shocked and distraught about the unplanned loss of her breast. As her anesthetic subsided, she cried on her nurse’s shoulder. In the days that followed, she buried her sadness and steeled herself in anticipation of an aggressive schedule of chemotherapy — eight rounds under the guidance of Dr. Pamela Goodwin, Director of the MKBC and the Marvelle Koffler Chair in Breast Research.
"I was in my first chemo treatment when Trisha checked in on me," says Nicole. A social worker in the MKBC, Trisha Woodhead had already met Nicole during her first consult with her interdisciplinary team.
"She asked how I was doing, and I tried to smile. I remember feeling like, if I stopped smiling, I didn’t know what would happen to my world."
Woodhead recognized the look on Nicole’s face and the tone of her voice: "She told me I needed to let myself grieve."
To help Nicole through her experience, Woodhead connected her with Dr. Jon Hunter, a Mount Sinai psychiatrist and Head of Psychosocial Services in the MKBC who specializes in supporting patients through life-threatening health challenges.
When her chemotherapy and radiation were over, Nicole went to see Dr. Hunter.
"After treatment ends, you’re more on your own. Seeing Dr. Hunter then worked out perfectly because that’s when I needed it most. Dr. Hunter completed the cycle of holistic, integrated care at Mount Sinai."
Today, with Nicole’s active treatment done, she’s considered cancer free. But she’s not done with Mount Sinai. In late 2018, Nicole underwent another surgery. Along with the reconstruction of her left breast, surgeons also removed her still-healthy right breast — which, like her left breast, will be reconstructed over time. The result of the surgeries is a dramatic reduction in Nicole’s risk of ever experiencing breast cancer again.
She still sees Dr. Hunter. She also visits Mount Sinai for colorectal and thyroid cancer screening — since her CHEK2 mutation may heighten her risk for those cancers as well. But even as she prepares to move forward with her life after cancer, she knows she’s still part of the Mount Sinai family.
"I’ll never stop going back to visit the Koffler Centre," says Nicole. "No one has told me ‘you’re done now.’ I’ll always be part of the family there.
"It’s a special place," she adds. "It’s where humanity is at its best."
Photo credit John Packman
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