The European CMMRD (constitutional mismatch repair deficiency) database

Chrystelle Colas, Institut Curie, Paris, France,

Laurence Brugières, Gustave Roussy, Villejuif, France

On behalf of the Care for CMMRD consortium


Biallelic germline mutations in one of the MMR genes are responsible for Constitutional Mismatch Repair Deficiency (CMMRD) characterized by multiple and very early-onset malignancies including brain, hematologic and Lynch Syndrome related cancers (DC). Due to the rarity of the syndrome, few data were available about the clinics, molecular aspects, and outcome of these patients.

One of the first objectives of the European Consortium Care for CMMRD (C4CMMRD) was to create a database to collect data on patients with CMMRD. Collected data could then be used for collaborative studies.

We report phenotypic presentation, molecular germline and somatic results, phenotype-genotype correlations and outcome of 89 patients included in the European C4CMMRD database. We present results of past collaborative studies and ongoing projects.

International patients’ registries data have been recognized as a key instrument to improve knowledge on rare diseases.  The European CMMRD data base aims to improve knowledge and care of CMMRD patients.