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Li-Fraumeni syndrome is a rare hereditary cancer syndrome associated with inherited mutations in the TP53 gene (sometimes referred to as p53).
Li-Fraumeni syndrome is associated with a number of different young-onset cancers; one study estimated that 50% of cancers in people with this syndrome occur before age 30. Individuals with traditional Li-Fraumeni syndrome have up to a 90% risk of developing cancer by age 60, and are also at risk for developing multiple different cancers over their lifetimes.
Increased cancer risk associated with
Li-Fraumeni syndrome include:
Some people carry
TP53 mutations that are associated with a lifetime cancer risk that isn't quite so high; this syndrome is called Li-Fraumeni Like syndrome.
Clinical guidelines for managing cancer risk associated inherited mutations in
A genetics expert can look at your personal and family medical history and see if it is consistent with
Li-Fraumeni syndrome and order testing if appropriate.