Li-Fraumeni syndrome

Last revised by Dr Francis Deng on 27 Jan 2020

Li-Fraumeni syndrome is a hereditary cancer syndrome due to mutations in the tumor suppressor gene TP53. Approximately half of affected individuals are thought to develop invasive cancer by 30 years of age 1.

Associated malignancies

History and etymology

The disorder was described in 1969 by the cancer geneticists Frederick Li and Joseph Fraumeni, Jr, who were then working at the National Cancer Institute in Maryland, USA 2.

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