Li-Fraumeni syndrome is a hereditary cancer syndrome due to mutations in the tumour suppressor gene TP53. Approximately half of affected individuals are thought to develop invasive cancer by 30 years of age 1.
Associated malignancies
- sarcomas
-
CNS tumours
- gliomas
- choroid plexus carcinoma
- medulloblastoma
- neuroectodermal tumours
- leukaemia
- breast cancer
- adrenal cortical carcinoma
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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