Rare genetic condition increases cancer risk

CORAL GABLES, Fla. – The National Cancer Center estimates that nearly 40 percent of American men and women will be diagnosed with cancer at some point in their lives, but that risk is much higher for people born with a genetic condition called Li-Fraumeni syndrome .

Lauren Fernandez was 8 years old when she was diagnosed with LFS.

Her mother suspected something was wrong after her father had several cancer diagnoses.

“My mother, who was a nurse, was alarmed and she found out,” Fernandez said.

A child of a parent with LFS, in this case her father, has a 50 percent chance of inheriting the mutation that predisposes patients to several types of cancer.

“What it is … our tumors are regulated by oncogenes and repressor genes and if you have a repressor gene that is damaged, which it is in the Li-Fraumeni syndrome, the P53, there is a higher incidence that you have a malignancy.” developing,” said Dr. Guillermo De Angulo with the Nicklaus Children’s Hospital.


He said about 50 percent of patients with LFS develop a malignancy before age 40, and 90 percent of them develop the malignancy before age 60.

“And so what we do is we follow a certain schedule where we do whole-body imaging, we look for certain tumor markers, and if we can identify them, we’re able to improve the survival rate of this patient population,” he said. The Angulo.

Fernandez undergoes annual body scans, MRIs of her brain, ultrasounds of her abdomen, and regular visits to a dermatologist and ophthalmologist.

“And if you’re a woman, you need to get ultrasounds or MRIs of the breast at a younger age than is normally indicated for the current population,” De Angulo said.

At the end of last year, Fernandez underwent a double mastectomy to reduce her risk of breast cancer.

She said being proactive about her health helps her move forward.

“I am certainly always happy and grateful for what I have. I like adventures and experiencing new things, just like living life,” she said.


While genetic engineering may someday play a role in the treatment of LFS, early detection of cancer is key to patient survival for now.

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