Rare genetic condition increases cancer risk

People born with a genetic disorder cal Li-Fraumeni Syndrome, or LFS, are pre-disposed to different types of cancers.

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 during their lifetime, but that risk is much higher for people born with a genetic disorder 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 went through several cancer diagnoses.

”My mom, being a nurse, she was alarmed and she figured it out,” Fernandez said.

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

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

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

”And so what we do is we follow a certain schedule where we do imaging on the entire body, we look for certain tumor markers and if we’re able to identify them then we’re actually able to improve the survivorship on this patient population,” De Angulo said.

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

”And then if you’re female you have to do ultrasounds or MRIs of the breast at an earlier age than what’s normally indicated for the current population,” De Angulo said.

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

She said being proactive about her health keeps her moving forward.

”I’m definitely always happy and grateful for what I have. I love adventures and experiencing new things just like living life,” she said.

While genetic engineering may one day play a role in treating LFS., for now, catching cancers early is the key to patient survival.

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.