Lesser Known PALB2 Gene Mutation Puts People at Higher Cancer Risk

Sylvester Offers Patients Personalized Treatment Plans

Dr. Matthew Schlumbrecht is a gynecologic oncologist at Sylvester Comprehensive Cancer Center. For more information about treatments and services for gynecologic cancers, click here or visit the UHealth blog.


A decade after battling breast cancer, Stephanie Leiva found out her fight wasn’t over.

“Pretty much 10 years later, I found out I had ovarian cancer,” Stephanie says.

Matthew Schlumbrecht, M.D., a gynecologic oncologist at Sylvester Comprehensive Cancer Center, recommends patients like Stephanie undergo genetic testing not just for BRCA that can raise a woman’s risk for breast cancer, but for a panel of genes including less well known PALB2.

“Much like BRCA1 and 2, there are associated increased cancer risks when people have a genetic mutation in PALB2,” Dr. Schlumbrecht says.

“Doctor, what does a PALB2 mutation put us at a higher risk for?” asks anchor Pam Giganti.

“The risk for breast cancer in a PALB2 mutation carrier is approximately 44% over the course of a patient’s lifetime,” says Dr. Schlumbrecht.

The gene mutation can also increase the risk of ovarian and pancreatic cancers. So how do we know if we have it?

“It’s really important that in conversations with your physician, you determine whether or not you’re high enough risk based on your personal and family histories to undergo testing. And then if you are, the most appropriate test to have,” Dr. Schlumbrecht says.

Stephanie learned she has the PALB2 mutation. Now she’s being closely monitored by an entire team of specialists at Sylvester.

“One of the benefits of being at Sylvester is that we really take a comprehensive approach to patient care here,” Dr. Schlumbrecht says. “We can develop a treatment plan and a surveillance plan for each individual patient.”

Stephanie is thankful to the team at Sylvester and to be here to watch her adopted daughter Sloane grow up.

“She’s getting ready to graduate from college. So now my prayers have been answered,” Stephanie says.


Focusing on You: Innovations in Modern Medicine is a series of healthcare-related stories airing regularly on WPLG Local 10. For more stories like this one, visit YouTube channels for UHealth, the University of Miami Health System.

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