Li-Fraumeni syndrome
What are the causes?
In three quarters of families with LFS, the cause is a mutation of the tumour suppressor gene TP53 on chromosome 17 at p13.1. Tumour suppressor genes restrain cell growth and mutations in these genes allow the uncontrolled division of cells and the formation of tumours. Children in families known to have LFS need to have annual checks, (some centres offer ultrasound of the tummy) and breast screening from the early twenties. Magnetic Resonance Imaging (MRI) of the breasts in women is being studied and may be offered annually from the age of twenty-five to sixty years.
What are the symptoms?
| How is it diagnosed? ![]()