The rare Li-Fraumeni syndrome is an inherited (autosomal dominant) condition that significantly increases the risk of an affected person developing cancer of many organs including brain, breast, bone (sarcoma), adrenal gland and blood (leukaemia). The cancer usually occurs at a young age and repeatedly in different organs throughout life. The diagnosis is suspected if multiple members of a patient’s family have developed cancer at a young age.
Genetic testing can be performed to detect the abnormal gene and confirm the diagnosis. The tumour suppressor gene TP53 is the gene that is abnormal.
Once diagnosed the patient and their doctor must obviously be very alert for any new cancers that may develop.