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Lesser known gene mutation affects breast cancer risk

“We’re learning more about the gene. Women who test positive for this genetic mutation, they have an elevated risk for breast cancer," said breast surgeon Dr. Margaret Thompson with the Cleveland Clinic Weston.
“We’re learning more about the gene. Women who test positive for this genetic mutation, they have an elevated risk for breast cancer," said breast surgeon Dr. Margaret Thompson with the Cleveland Clinic Weston.

WESTON, Fla. – In the ever-expanding world of genetic testing, health experts are finding an abnormal gene mutation that increases the risk of breast, and other cancers, more than previously thought.

Bertha Brooks began her battle with breast cancer 26 years ago when she was just 40.

“They had done three different biopsies on me and when the biopsies came back they were all negative I said to my doctor that’s not right something is wrong,” Brooks said.

She underwent a mastectomy to remove the affected breast.

Then, in 2018, she developed cancer in her other breast.

Genetic testing revealed a mutation in a gene called PALB2.

“We’re learning more about the gene. Women who test positive for this genetic mutation, they have an elevated risk for breast cancer. It ranges anywhere from 40% to 60% by the age of 70,” said breast surgeon Dr. Margaret Thompson with the Cleveland Clinic Weston.

Thompson said the gene mutation can also be passed on to both women and men.

“They would both be at risk for breast cancer and pancreatic cancer. men would be at risk for prostate cancer and women are at risk for ovarian cancer,” she said.

People with the genetic mutation need to undergo more frequent screenings and surveillance.

“I know that I have to stay on top of my family members and go ‘it’s not just me, you need to get the genetic testing too to make sure you’re OK,” Brooks said.

Once identified, there are medications that can help target the PALB2 gene mutation.


About the Authors:

Veteran journalist Kathleen Corso is the special projects producer for Local 10 News.

Kristi Krueger has built a solid reputation as an award-winning medical reporter and effervescent anchor. She joined Local 10 in August 1993. After many years co-anchoring the 6 p.m. and 11 p.m., Kristi now co-anchors the noon newscasts, giving her more time in the evening with her family.