Abstract
Li-Fraumeni syndrome is one of the most severe hereditary cancer syndromes. In about 75 % of patients a germline mutation in the TP53 gene can be detected.
This gene is important for the regulation of cell cycle and apoptosis. The germline mutation causes a high risk of leukaemia, brain tumours, sarcomas, adrenocortical tumours and also early-onset breast cancer.
Any type of cancer may occur in this syndrome. The risk of neoplastic disease is 50% until 30 years, 90% until 70 years of age.
In our series of patients with this syndrome there are three women with the occurrence of a tumour in adult age. Their cases may resemble other cancer predisposing syndromes of breast and colorectal cancer.
The evaluation of family history is very important for the diagnosis of individual cases.