Li-Fraumeni Syndrome

Overview

The Li-Fraumeni syndrome (LFS) is characterised by an autosomal dominant hereditary predisposition tocancer. Affected individuals suffer from sarcomas, breast and brain tumours, and adrenocortical carcinomas, butalso from other types of tumours. The cancers may arise at an unexpectedly young age, often in early childhood,and the patients may suffer from several independent tumours. Some of the affected families harbour a germlinemutation in the tumour suppressor gene TP53. These mutations can also be found in some families not conformingto the strict criteria of LFS. All individuals at risk should undergo a regular follow-up, because early diagnosis ofcancer may also in LFS lead to amore successful tumour therapy. Screening for germline TP53mutations can confirmor exclude the cancer predisposition in individual family members. Oncogenetic counselling is associated with manypsychological and ethical problems. Interdisciplinary collaboration between clinicians and geneticists as well asinvolvement and collaboration of the patients and their relatives is needed for an optimal care for families at risk.

Key words:
Li-Fraumeni syndrome, germline TP53 mutations, hereditary predisposition to cancer, cancerfamily, childhood cancers, anticipation, oncogenetic counselling, preventative follow-up