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
Lien Pubmed
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
