USF researcher knew cancer ran in her family. Genetic testing told her why.

By Paul Guzzo, University Communications and Marketing

At 8 years old, Marleah Dean Kruzel watched her mother battle breast cancer and feared what the disease might take from her family.

"At certain points in her journey, we couldn't give her a hug," Dean Kruzel recalled. "The chemotherapy, she reacted to it a lot. She would throw up in the night. She lost all her hair."

That experience stayed with Dean Kruzel. Today, as a mother and a University of South Florida professor and researcher, she works to help others confront hereditary cancer risk before it becomes a crisis.

A healthcare communication expert, Dean Kruzel studies how people navigate medical uncertainty, make decisions and communicate about genetic risk. Much of her work focuses on people who carry inherited gene mutations that increase their cancer risk, but haven't been diagnosed.

Through her research and public outreach, Dean Kruzel advocates for genetic testing, which can identify inherited gene mutations associated with cancers including breast cancer, ovarian cancer, prostate cancer and pancreatic cancer.

She emphasizes that receiving a positive genetic test result is not a cancer diagnosis. But it does provide information that can help people make decisions about screening and prevention.

"Knowing your genetic makeup doesn't mean you're going to be diagnosed with cancer," Dean Kruzel said. "It just means you are equipped with some knowledge to make informed health decisions as to whether or not you want to screen or be proactive about it. That can mean more frequent mammograms, breast MRIs or other screening measures designed to detect cancer earlier, when treatment is often most effective."

But Dean Kruzel is not simply a researcher and advocate talking about hereditary cancer risk. She is living with it herself.

While pursuing her doctoral degree, Dean Kruzel tested positive for an inherited mutation in the BRCA2 gene. She has not been diagnosed with cancer, but she knows the mutation substantially increases her risk.

"I underwent genetic testing because I didn't want to end up like my mother where I was unprepared," Dean Kruzel said.

She was 8 when cancer changed her family

She still remembers the night clearly.

"My mom got a call," Dean Kruzel said. "We were at the dinner table. Everybody was very quiet. It was eerie. I could sense something was wrong."

Her mother then excused herself and went to the bedroom. Minutes later, Dean Kruzel's father followed. Curious and concerned, the 8-year-old slipped outside and climbed onto a large rock beneath her parents' bedroom window.

"I peered in the window, and my mom was on the floor, just crying," Dean Kruzel recalled. "And my dad was trying to comfort her."

Her mother had discovered a lump during a self-breast exam. The diagnosis and treatments, including a radical mastectomy on her left breast where the lump was found, would consume much of the next three years.

Throughout their journey, her parents tried to include Dean Kruzel in age-appropriate ways. She attended some appointments with her mother, including one chemotherapy and one radiation session and met with a psychologist to help process her emotions.

At home, her parents worked to create stability. Friends helped with school pickups and play dates, while the family maintained routines, including taking evening walks together.

Slowly, treatment worked.

The family eventually reached the milestone many cancer patients and their loved ones hope for: five years cancer-free.

"That mark is kind of a big deal," Dean Kruzel said.

Her mother has now been a breast cancer survivor for 29 years.

Genetic testing revealed a risk hiding in DNA

About a decade after her diagnosis, genetic testing revealed that Dean Kruzel's mother carried an inherited mutation in the BRCA2 gene, which significantly increases the risk of breast cancer, ovarian cancer, pancreatic cancer and other cancers.

The discovery helped explain a pattern within the family.

Of her mother's four siblings, three sisters have tested positive for the mutation. One was diagnosed with cancer at 37 and survived. Another tested positive but has never developed cancer. Her brother has neither undergone genetic testing nor been diagnosed with cancer.

For Dean Kruzel, her experiences were the driving force for a career devoted to helping people navigate the questions her family had faced.

"My early childhood experiences fueled my interest in giving back to the medical community who saved my mom's life," Dean Kruzel shared.

She began conducting breast cancer research as an undergraduate and built a career studying how people process and communicate about health information and make decisions about their health.

What testing can and cannot tell you

Genetic testing analyzes a person's DNA for inherited changes in specific genes that may increase the risk of developing certain diseases, including cancer. Testing typically requires a blood sample, saliva or a cheek swab.

For people with a family history of cancer, testing can determine whether they carry mutations passed down from a parent. The results can help doctors tailor screening and other medical care to a person's individual risk.

The information can also be important for relatives. Because inherited mutations can be passed through families, a positive genetic test result may prompt family members to consider testing of their own.

Dean Kruzel understands the fear that can accompany the decision to get tested.

"When there's a threat, when there's the unknown, people fall into two camps," she said. "They either seek information or they avoid information."

While choosing not to pursue genetic testing can be a coping mechanism, just as seeking information can be, Dean Kruzel said, she encourages people to understand that a positive result does not mean you will be diagnosed with cancer.

"Just because you undergo genetic testing doesn't mean you're going to test positive," Dean Kruzel said. "And even if you test positive, it doesn't mean you're going to get cancer. For example, my mom's older sister is also BRCA-positive but hasn't been diagnosed with cancer."

Instead, she sees genetic testing as a tool that can help people prepare, monitor their health and make informed decisions with their doctors and loved ones.

"When my mom was in treatment, we had a lot of open communication," Dean Kruzel said. "My parents reminded me that although mommy is sick, they are doing everything to make sure mommy will be here on my wedding day. She was. And I will do everything I can to be at the weddings of my two children."

Resources for individuals and families facing hereditary cancer risk

Dean Kruzel emphasizes that no one has to navigate genetic testing or inherited cancer risk alone. A variety of organizations offer education, peer support, counseling resources and even financial assistance for genetic testing. She encourages people to build a support network and take advantage of these resources when facing difficult decisions about cancer risk.

Dean Kruzel recommends the below resources:

FORCE (Facing Our Risk of Cancer Empowered): Information, support programs, peer connections and educational resources for individuals and families affected by hereditary cancer risk. Kruzel serves on the organization's scientific advisory board.

Imerman Angels: Provides free peer-to-peer support by connecting people facing cancer or inherited cancer risk with trained mentors who have shared experiences.

My Faulty Gene: Offers education and support for people with inherited cancer-risk mutations and helps cover the cost of genetic testing for some individuals when insurance does not. Kruzel serves on its board.

Previvor Perspectives: A project co-founded by Dean Kruzel and Sara Kavanaugh aims to connect patients, researchers and healthcare providers while helping people live with hereditary cancer risk.

National Society of Genetic Counselors: Provides a searchable directory to help people locate genetic counselors who can assess family history, discuss risk and determine whether genetic testing may be appropriate.