Targeted next-generation sequencing detects rare genetic events in pheochromocytoma and paraganglioma.
Fiche publication
Date publication
mars 2019
Journal
Journal of medical genetics
Auteurs
Membres identifiés du Cancéropôle Est :
Pr FAIVRE Laurence
Tous les auteurs :
Ben Aim L, Pigny P, Castro-Vega LJ, Buffet A, Amar L, Bertherat J, Drui D, Guilhem I, Baudin E, Lussey-Lepoutre C, Corsini C, Chabrier G, Briet C, Faivre L, Cardot-Bauters C, Favier J, Gimenez-Roqueplo AP, Burnichon N
Lien Pubmed
Résumé
Knowing the genetic status of patients affected by paragangliomas and pheochromocytomas (PPGL) is important for the guidance of their management and their relatives. Our objective was to improve the diagnostic performances of PPGL genetic testing by next-generation sequencing (NGS).
Mots clés
mosaicism, next generation sequencing, paraganglioma, pheochromocytoma, somatic mutations
Référence
J. Med. Genet.. 2019 Mar 15;: