Local woman spreading awareness about lesser-known PALB2 gene mutation

WTAP News @ 6
Published: Oct. 29, 2021 at 5:12 PM EDT
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PARKERSBURG, W.Va. (WTAP) -In today’s world, technology and medicine is rapidly changing and improving. However, spreading awareness and accurate information about these modern marvels can be a challenge.

Stephanie Plant hopes to tackle that challenge by informing more people about a life-altering discovery she made after she underwent genetic testing.

Plant discovered she had a benign tumor when she was just 20 years old. To be on the safe side, she got a lumpectomy and had no issues for years. Then, two years ago, she found lumps and in June of 2020, her doctor had her undergo genetic testing.

“I got the call and he was like, you’re PALB2 positive. What is that? What does that mean,” Plant said.

It means Plant had a mutation in a gene called PALB2- a gene that doctors started testing for in 2014. It helps fight off radicals in the body that can cause Cancer.

“It was kind of a life-changing moment because you have to make some decisions. You’re given this information and what do you do with this information,” Plant said.

What Plant decided to do was get a double mastectomy and DIEP Flap procedure after her doctor, Doctor Kelli Cawley at Marietta Memorial, advised her to see Doctor Santosh Kale from Midwest Breast and Aesthetic Surgery.

Kale says Plant was wise to get tested for the PALB2 gene because most women who test negative for the better known BRACA2 mutation can still test positive for PALB2.

“Several years ago, in the past, they were only looking for BRCA but now that there are linkages with other genes and increased risk of developing breast cancer, a lot of those panels now are looking for genes like PALB2,” Kale said.

Plant says her own cousin tested negative for the BRACA gene but later tested positive for PALB2 after doctors started testing for it in 2014. And Plant says she believes there are other women out there like her cousin who may not know they have the PALB2 mutation.

“Knowing this, I really feel, saved me from, possibly saved my life,” Plant said.

Plant says she has two daughters who have tested positive for the PALB2 gene as well. They have begun extra screenings and have met with breast surgeons to put a plan in place.

The average woman carries about a 12% lifetime risk for developing breast cancer. That risk jumps to 40% to 60% when PALB2 malfunctions. Knowing these stats, Plant says she wants more people to test to see if they have this mutation.

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