CMMRD guideline

ERN GENTURIS guideline on constitutional mismatch repair deficiency diagnosis, genetic counselling, surveillance, quality of life, and clinical management Authors: Chrystelle Colas, Léa Guerrini-Rousseau, Manon Suerink, Richard Gallon, Christian P. Kratz, Éloïse Ayuso, CMMRD Guideline Group, Laurence Brugières, Katharina Wimmer
Full guideline document	Journal Publication¹	Pocket guide²	Plain language summary³
Download the complete guidelines here.	Published online on 17 October 2024 in the European Journal of Human Genetics: https://doi.org/10.1038/s41431-024-01708-6	The pocket 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):
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 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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Written by ERN GENTURIS

Constitutional Mismatch Repair Deficiency (CMMRD)

ERN GENTURIS guideline on counselling on reproductive options for individuals with a cancer predisposition syndrome (including genturis)

Care pathway - Constitutional Mismatch Repair Deficiency (CMMRD)

Patient journey – CMMRD syndrome (Translations**)

Patient journey – Counselling on reproductive options for individuals with a cancer predisposition syndrome (CPS) and relevant family members (Translations**)