This Rare Genetic Condition Leads to Cancer After Cancer

People with Li-Fraumeni syndrome are susceptible to developing multiple types of early onset cancer. Researchers are working to find a way to make life easier for these patients.

By Anna Funk
May 18, 2021 12:00 AM
Woman Receiving Radiation Therapy for Cancer Treatment - shutterstock 1091110733
(Credit: Mark_Kostich/Shutterstock)

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Two-time cancer survivor JulieAnn Villa remembers her first genetic test in 2004, when she was 27. Her older brother had previously survived acute lymphoblastic leukemia, a rare cancer of the blood and bone marrow, when he was 13. A few years earlier, her cousin, who grew up two blocks away, received a stage IV breast cancer diagnosis at age 27. It seemed like a trend. 

“I just thought, I want to do everything preventative that I can. I had my first mammogram at 25,” Villa says. Her genetic results came back inconclusive. She didn’t have a mutation in BRCA1, BRCA2 or HER2, three of the most common breast cancer-related genes. 

But in 2010, Villa received her first cancer diagnosis. After two years of bloody stool and doctors telling her she had hemorrhoids, she finally lost enough blood that she felt too dizzy to stand. Her doctor sent her for a colonoscopy, and immediately knew: It was rectal cancer. She was supposed to run the Chicago Marathon on 10/10/10, but ended up receiving chemotherapy.  

Her doctors ordered another, more in-depth genetic test in 2011. This time, they told her she had a “variation of unknown significance” in a gene called TP53. A second cancer, this time in her jaw, came and went in 2015. It wouldn’t be until 2020 that she’d learn she had Li-Fraumeni syndrome, a rare, heritable condition that causes an ultra-heightened susceptibility to cancer, especially in young people.  

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