Constitutional mismatch repair deficiency syndrome: clinical description in a French cohort.

Fiche publication


Date publication

novembre 2015

Journal

Journal of medical genetics

Auteurs

Membres identifiés du Cancéropôle Est :
Dr COUILLAULT Gérard, Pr ENTZ-WERLE Natacha


Tous les auteurs :
Lavoine N, Colas C, Muleris M, Bodo S, Duval A, Entz-Werle N, Coulet F, Cabaret O, Andreiuolo F, Charpy C, Sebille G, Wang Q, Lejeune S, Buisine MP, Leroux D, Couillault G, Leverger G, Fricker JP, Guimbaud R, Mathieu-Dramard M, Jedraszak G, Cohen-Hagenauer O, Guerrini-Rousseau L, Bourdeaut F, Grill J, Caron O, Baert-Dusermont S, Tinat J, Bougeard G, Frébourg T, Brugières L

Résumé

Constitutional mismatch repair deficiency (CMMRD) syndrome is a childhood cancer predisposition syndrome involving biallelic germline mutations of MMR genes, poorly recognised by clinicians so far.

Mots clés

Adaptor Proteins, Signal Transducing, genetics, Adenosine Triphosphatases, genetics, Adolescent, Adult, Brain Neoplasms, diagnosis, Child, Child, Preschool, Colorectal Neoplasms, diagnosis, DNA Repair Enzymes, genetics, DNA-Binding Proteins, genetics, Female, Humans, Infant, Male, Mismatch Repair Endonuclease PMS2, MutL Protein Homolog 1, MutS Homolog 2 Protein, genetics, Mutation, Neoplastic Syndromes, Hereditary, diagnosis, Nuclear Proteins, genetics, Treatment Outcome, Young Adult

Référence

J. Med. Genet.. 2015 Nov;52(11):770-8