Li-Fraumeni syndrome: cancer risk assessment and clinical management

KA McBride, ML Ballinger, E Killick, J Kirk… - Nature reviews Clinical …, 2014 - nature.com
KA McBride, ML Ballinger, E Killick, J Kirk, MHN Tattersall, RA Eeles, DM Thomas, G Mitchell
Nature reviews Clinical oncology, 2014nature.com
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 …
Abstract
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.
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