Li-Fraumeni Syndrome: An In-depth Overview
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Abstract
Introduction: to Li-Fraumeni Syndrome Li-Fraumeni Syndrome (LFS) is a rare, inherited disorder that significantly increases the risk of developing several types of cancer, often at a young age. First identified by Drs. Frederick Li and Joseph Fraumeni in 1969, LFS is caused by mutations in the TP53 gene, which encodes a protein crucial for regulating cell division and preventing tumor formation. When this gene is mutated, its tumor-suppressing function is compromised, leading to a predisposition for various cancers.
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- europepmc
- last seen: 2026-05-20T01:45:00.602351+00:00