Medulloblastomas with pathogenic variants: A weakly penetrant syndrome with a restricted spectrum in a limited age window.
Fiche publication
Date publication
mai 2024
Journal
Neuro-oncology advances
Auteurs
Membres identifiés du Cancéropôle Est :
Pr ENTZ-WERLE Natacha, Dr MAUGARD Christine
Tous les auteurs :
Guerrini-Rousseau L, Masliah-Planchon J, Filser M, Tauziède-Espariat A, Entz-Werle N, Maugard CM, Hopman SMJ, Torrejon J, Gauthier-Villars M, Simaga F, Blauwblomme T, Beccaria K, Rouleau E, Dimaria M, Grill J, Abbou S, Claret B, Brugières L, Doz F, Bouchoucha Y, Faure-Conter C, Bonadona V, Mansuy L, de Carli E, Ingster O, Legrand C, Pagnier A, Berthet P, Bodet D, Julia S, Bertozzi AI, Wilems M, Maurage CA, Delattre O, Ayrault O, Dufour C, Bourdeaut F
Lien Pubmed
Résumé
pathogenic variants (PV) have been recently identified as the most frequent variants predisposing to Sonic Hedgehog (SHH) medulloblastomas (MB); however, guidelines are still lacking for genetic counseling in this new syndrome.
Mots clés
ELP1, cancer predisposition syndrome, medulloblastoma, pathogenic variant
Référence
Neurooncol Adv. 2024 05 15;6(1):vdae075