hTP53rc guideline
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Guidelines for the Li-Fraumeni and Heritable TP53-related cancer syndromes - Guidelines for the identification of individuals who should be tested for germline disease-causing TP53 variants and for their subsequent clinical management
Authors: Prof. Thierry Frebourg, France; Prof. D. Gareth Evans, United Kingdom; Ass. Prof. Svetlana Bajalica Lagercrantz, Sweden; Prof. Carla Oliveira, Portugal; Rita Magenheim, Germany / Hungary.
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Full guideline document |
Journal Publication1 |
Pocket guide2 |
Plain language summary3 |
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Download the complete guidelines here. |
Published online on 26 May 2020 in the European Journal for Human Genetics: https://doi.org/10.1038/s41431-020-0638-4 |
The guide is available in the following languages (click on a flag to download the corresponding language version): |
The plain language summary is available in the following languages (click on a flag to download the corresponding language version): |
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1 The journal publication is a concise version of the full guideline document, published in a peer-reviewed journal. 2 The pocket guide is the guideline summary presented on a pocket card. 3 The plain language summary provides a clear summary of the guideline using non-technical language, making it accessible to a wider network of readers including patients. |
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Other relevant ERN GENTURIS information
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ERN GENTURIS website summary |
Clinical practice guidelines |
ERN GENTURIS care pathway |
ERN GENTURIS patient journey |
ERN GENTURIS publications |
ERN GENTURIS webinars |
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Written by ERN GENTURIS |
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Heritable TP53-related cancer syndrome (hTP53rc syndrome)/Li-Fraumeni syndrome (LFS) |
Care pathway - Heritable TP53-related cancer syndrome/Li Fraumeni syndrome |
Patient journey - Heritable TP53-related cancer syndrome/Li Fraumeni syndrome
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Thematic Group 4: Other rare – predominantly malignant – genturis |
ERN GENTURIS webinars - Thematic group 4: Other rare genturis |