Abstract
Patients with a tumour-risk syndrome have a significantly increased risk of developing
cancer during their lifetime. A positive family history of tumour disease or an unusually
early age of onset may be indicative of a tumour risk syndrome. With the diagnosis
of a tumour risk syndrome it is possible to recommend a risk-adapted tumour surveillance
programme for the patient and (asymptomatic) family members at risk. This facilitates
early detection of possible tumours and thus often prevents advanced tumour stages.
Li-Fraumeni syndrome is associated with a significantly increased risk of sarcoma
and breast cancer in particular, but it is often not diagnosed clinically in those
affected. This article reviews the clinical picture, genetic cause and special aspects
in the diagnosis and care of patients with Li-Fraumeni syndrome. The initiative resulted
from the European reference network GENTURIS, which has set itself the task of improving
the identification and care of
patients with tumour risk syndromes. A first step is the recent publication of
a European guideline for Li-Fraumeni syndrome, which is summarised here and discussed
in the context of existing recommendations.
Key words
Li-Fraumeni syndrome - TP53 - tumour risk syndromes - cancer screening - guideline
