Focusing on You: PALB2 Gene Mutation Puts People at Higher Cancer Risk

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Sylvester offers personalized treatment plans for patients with this lesser-known gene mutation.

Matthew Schlumbrecht, M.D., a gynecologic oncologist and Interim Division Chief for Gynecologic Oncology at Sylvester Comprehensive Cancer Center, explains what the PALB2 gene is, what types of cancer it can put you at risk for, and who is a good candidate for genetic testing. Stephanie Leiva is Dr. Schlumbrecht’s patient.

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

“Pretty much ten 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 two, 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. So now she’s 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.


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