About 5 to 10 percent of women with an increased risk of breast cancer present with what USF researchers describe as a pathogenic or likely pathogenic variant in a hereditary cancer gene.
While the BRCA1/2 gene is the most common breast cancer gene, other common genes include the PALB2, CHEK2, and ATM.
Marleah Dean Kruzel, PhD. (Photo by Corey Lepak)
An interdisciplinary team, consisting of Dr. Marleah Dean Kruzel, associate professor in the College of Arts and Sciences Department of Communication and Dr. Deborah Cragun, associate professor and director of genetic counseling in the College of Public Health examined what factors influenced women’s decision making in managing their inherited cancer risk.
They also worked with Dr. Tuya Pal, a board-certified clinical geneticist with Vanderbilt University, and a team including an applied medical anthropologist, public health program manager, genetic counselor, and a USF undergraduate student working in Dean Kruzel’s Cancer Communication Research Lab.
“Patients with inherited mutations in particular genes have an increased, lifetime risk of developing hereditary cancers like breast cancer and ovarian cancer,” Dean Kruzel, a behavioral scientist trained in health communication, said.
These different gene mutations, she explained, have different associated cancer risks and mitigation of what to do varies.
“Depending on the gene mutation, patients may engage in surveillance—detecting cancer early through mammograms or MRIs—or undergo risk-reducing surgeries (such as removing breast tissue or ovaries) to prevent cancer. For those who are at a very high risk of cancer, it is reasonable to remove breasts or ovaries, but for others, their risks are moderate or low, and thus may not be reasonable to undergo these risk-reducing surgeries, which is where our study comes in,” she said.
As a part of a larger project examining patient surveys about cancer risk management, Dean Kruzel and her colleagues conducted 33 interviews with women with these inherited genes, focusing particularly on those with mutations in PALB2, CHEK2, and ATM genes.
Their research, “Factors that differentiate cancer risk management decisions among females with pathogenic/likely pathogenic variants in PALB2, CHEK2, and ATM,” has been published in Genetics in Medicine and featured in an episode of their podcast.
The study utilized a novel method called coincidence analysis, which enabled the researchers to distinguish differences between women’s decision-making experiences that would have not been identified through traditional qualitative data analysis.
“We identified trust as a key factor in decision making about managing their inherited cancer risk,” Dean Kruzel said.
They found that participants explained their decisions to manage their inherited cancer risks were influenced or justified by one, or a combination, of: trust in their medical care and medical providers, anxiety about being diagnosed with cancer, and their healthcare providers’ recommendations.
“Because of their experiences, some women underwent unnecessary prophylactic (i.e., preventive) surgery, which were inconsistent with national guidelines for managing their inherited cancer risk,” Dean Kruzel explained. “We were surprised about the role trust played in decision making. Some women were anxious, but their trust in their medical providers and cancer screening enabled them to not be as anxious and thus not undergo unnecessary surgeries; in other words, their decisions were consistent with national guidelines. In contrast, women who had unnecessary surgeries did so because their provider recommended it or having surgery reduced their worry and fear about preventing cancer or a future recurrence of cancer.”
The researchers focused on how women with PALB2, CHEK2, and ATM genes decided to mitigate news of their inherited cancer risk. (Photo source: Canva)
Dean Kruzel said the findings of this research highlights the influence medical providers have in how their patients make decisions to mitigate their cancer risks.
“Women who were anxious but trusted their medical providers did not have unnecessary surgeries, while women who were really anxious but did not trust their providers or the healthcare system and/or their providers recommend surgeries underwent these unnecessary surgeries. We wonder how many of these surgeries could have been prevented if they providers were knowledgeable about these more recently discovered genes and the recommended cancer risk management guidelines,” she said.
Dean Kruzel said she and her colleagues would like to take this research a step further and hope to explore medical providers’ experiences when talking about cancer risk management recommendations with their patients, as well as develop interventions, tools, or resources focused on supporting providers.
“I think these results emphasize the need for effective communication (including shared decision making) between medical providers and patients,” Dean Kruzel said. “Not only is this integral to my own research, but this resonates with me as patient who has an inherited gene mutation myself. It is difficult to navigate these complex decisions and having providers who we trust and are supportive of our healthcare needs and preferences makes a huge difference.”
Learn more about Dean Kruzel’s personal experience with navigating her cancer risk in the story she shared with the Centers for Disease Control and Prevention, as well as her research endeavors.