Targeted next-generation sequencing detects rare genetic events in pheochromocytoma and paraganglioma.

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

https://www.ncbi.nlm.nih.gov/pubmed/30877234

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;: