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Guidelines for the Li–Fraumeni and heritable TP53-related cancer syndromes
- Publication Year :
- 2020
-
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 canc
Details
- Database :
- OAIster
- Notes :
- application/pdf, European Journal of Human Genetics, English
- Publication Type :
- Electronic Resource
- Accession number :
- edsoai.on1182559666
- Document Type :
- Electronic Resource
- Full Text :
- https://doi.org/10.1038.s41431-020-0638-4