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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ERN GENTURIS guideline development policy
ERN GENTURIS developed a policy regarding guideline development which is based on the principles of Grading of Recommendations Assessment, Development and Evaluation (GRADE) to ensure the quality of the guidelines, but is tailored for rare disease guidelines, using an “enhanced GRADE’ approach to mitigate the challenges associated with rare disease research (please see "Evidence evaluation in rare disease guidelines: a methodological perspective"). This approach includes a comprehensive literature search with expert opinion (from clinicians with expertise in the disease as well as patients), to ensure that guidelines are both evidence-based and clinically relevant to the complex needs of rare disease populations. More details can be found in our guideline development policy and terms of reference.
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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 |