May 28, 2020

Guidelines for the Li-Fraumeni and heritable TP53-related cancer syndromes

European Journal of Human Genetics : EJHG
Thierry FrebourgEuropean Reference Network GENTURIS

Abstract

Fifty years after the recognition of the Li-Fraumeni syndrome (LFS), our perception of cancers related to germline alterations of TP53 has drastically changed: (i) germline TP53 alterations are often identified among children with cancers, in particular soft-tissue sarcomas, adrenocortical carcinomas, central nervous system tumours, or among adult females with early breast cancers, without familial history. This justifies the expansion of the LFS concept to a wider cancer predisposition syndrome designated heritable TP53-related cancer (hTP53rc) syndrome; (ii) the interpretation of germline TP53 variants remains challenging and should integrate epidemiological, phenotypical, bioinformatics prediction, and functional data; (iii) the penetrance of germline disease-causing TP53 variants is variable, depending both on the type of variant (dominant-negative variants being associated with a higher cancer risk) and on modifying factors; (iv) whole-body MRI (WBMRI) allows early detection of tumours in variant carriers and (v) in cancer patients with germline disease-causing TP53 variants, radiotherapy, and conventional genotoxic chemotherapy contribute to the development of subsequent primary tumours. It is critical to perform TP53 tes...Continue Reading

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Mentioned in this Paper

Germ-Line Mutation
Synovial Sarcoma
Malignant Childhood Neoplasm
Perception
Brain
P53 Signaling Pathway
Malignant Neoplasm of Central Nervous System
Adrenocortical Carcinoma
Li-Fraumeni Syndrome
Administration of Antineoplastic Agent

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