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 English:  

The plain language summary is available in English: 

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.