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Li-Fraumeni syndrome: cancer risk assessment and clinical management


Carriers of germline mutations in the TP53 gene, encoding the cell-cycle regulator and tumour suppressor p53, have a markedly increased risk of cancer-related morbidity and mortality during both childhood and adulthood, and thus require appropriate and effective cancer risk management. However, the predisposition of such patients to multiorgan tumorigenesis presents a specific challenge for cancer risk management programmes. Herein, we review the clinical implications of germline mutations in TP53 and the evidence for cancer screening and prevention strategies in individuals carrying such mutations, as well as examining the potential psychosocial implications of lifelong management for a ubiquitous cancer risk. In addition, we propose an evidence-based framework for the clinical management of TP53 mutation carriers and provide a platform for addressing the management of other cancer predisposition syndromes that can affect multiple organs.

Type Journal
ISBN 1759-4782 (Electronic) 1759-4774 (Linking)
Authors McBride, K. A. ; Ballinger, M. L. ; Killick, E. ; Kirk, J. ; Tattersall, M. H. ; Eeles, R. A. ; Thomas, D. M. ; Mitchell, G.;
Published Date 2014-01-01
Published Volume 11
Published Issue 5
Published Pages 260-71
Status Published in-print
URL link to publisher's version
OpenAccess link to author's accepted manuscript version