What is the incidence of Li-Fraumeni syndrome?

Updated: Nov 13, 2018
  • Author: ; Chief Editor: Max J Coppes, MD, PhD, MBA  more...
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United States

Li-Fraumeni syndrome appears to be rare, with approximately 400 reported families described in the literature since it was first characterized in 1969; its actual population incidence is unknown. Each year, approximately 5-10 cases of soft-tissue sarcoma occur per 1 million children younger than 15 years. In a study of sarcoma patients, 10% of families with either an osteosarcoma diagnosed before age 20 years or a soft-tissue sarcoma diagnosed before age 16 years were found to have germline TP53 mutations. [18]

A study by Yurgelun et al examined the frequency of germline TP53 alterations in patients with early-onset colorectal cancer. The study found that out of the 457 eligible participants, 6 (1.3%) carried germline missense TP53 alterations, however, none of these TP53 alterations met the clinical criteria for Li-Fraumeni syndrome. [19]

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