This is the first generation where women are routinely tested for genetic mutations that may increase their risk for breast cancer. They are also increasingly aware of the implications of their cancer history and genetic testing results on their daughters.
Researchers at The Children’s Hospital of Philadelphia are collaborating with adult breast cancer specialists to find ways for girls from high-risk families to navigate the nuances of how growing up with this knowledge affects their well-being and health behaviors.
One in 8 women in the U.S. will develop invasive breast cancer during their lifetime, according to the American Cancer Society. It is estimated that 5 to 10 percent of breast cancer cases result directly from gene defects — usually a mutation in the BRCA1 and BRCA2 genes — inherited from a parent.
Yet little research has been completed that explores how adolescent girls understand and respond to learning about their familial breast cancer risk, and many pediatric practitioners are inexperienced in helping them to deal with a legacy of cancer. Lisa A. Schwartz, PhD, a psychologist in the Division of Oncology at CHOP, is involved with two studies that are addressing this knowledge gap: “Studies of Female Teens” (SOFT I and SOFT II) and “Lessons in Epidemiology and Genetics of Adult Cancer from Youth” (LEGACY Girls Study).
“We want to capitalize on this window of time during the transition to adulthood when health behaviors are being solidified, and provide guidance on how they value their health and how they fit health into their identity as it's being developed,” Dr. Schwartz said.
She works closely on this research with co-principal investigators Angela R. Bradbury, MD, an assistant professor of medicine in the Division of Hematology-Oncology at the Perelman School of Medicine at the University of Pennsylvania, and Mary B. Daly, MD, PhD, at Fox Chase Cancer Center. Dr. Bradbury presented some of the SOFT II study’s findings in June at the annual meeting of the American Society of Clinical Oncology.
The study involved 320 girls with an average age of 15 years who were classified as either “high risk” or “population risk.” High-risk girls had a parent with a BRCA1/2 mutation or at least one first-degree or second-degree relative with a history of breast cancer. The results showed that high-risk girls were almost three times more likely to worry about breast cancer than population-risk girls, even when their mothers’ had no history of the disease. The study, which caught the attention of public media provider NewsWorks, also revealed that high-risk girls were significantly more likely to smoke cigarettes.
“We don’t know how to interpret that yet,” Dr. Schwartz said. “Is it because the anxiety is driving them to want to self-medicate, or is it because they have a fatalistic attitude that they’re going to get cancer anyway?”
The study team encouraged future research projects to evaluate outcomes of disclosure of genetic breast cancer risk to adolescents. Dr. Schwartz, Dr. Bradbury, and co-investigator Linda Patrick-Miller, associate director of the Center for Clinical Cancer Genetics at the University of Chicago, covered this emotionally charged topic in a presentation about sharing genetic information with offspring at the international conference Joining FORCEs Against Hereditary Cancer held in Philadelphia June 12-14.
Current National Comprehensive Cancer Network guidelines call for breast cancer surveillance for high-risk patients to begin with monthly self-exams at age 18, but semiannual clinical breast exams and annual mammograms are not recommended until age 25. Some contend that adolescents do not need to have immediate knowledge about their familial breast cancer risk since they do not undergo screening tests until adulthood. On the flip side, others advocate for disclosure in the teen years because young women can take steps to reduce their risks and practice healthy lifestyles as early as possible.
“Knowing your risk probably is a positive thing, but we’re not doing a good job of helping teens to manage that risk,” Dr. Schwartz said. “We don’t just want to leave these girls worrying and then turning to bad behaviors because they’re afraid that they have no choices. We can reframe this risk and help them to see that they can have control over their health.”
In light of the sensitive nature of their studies that recruited vulnerable adolescents, Dr. Schwartz participated with colleagues to implement an event monitoring committee to provide additional oversight of their research activities as a safeguard to identify any emotional, social, cultural, or economic issues that might develop. The study team published their framework and recommendations in the Journal of Adolescent Health for other investigators and institutional review boards to incorporate into future regulatory standards to improve the safety of behavioral and observational studies involving children and adolescents.
“When working with children and families, it’s important to really think through and identify any precautions that you can take in your research to protect them,” Dr. Schwartz said.