Targeted next-generation sequencing detects rare genetic events in pheochromocytoma and paraganglioma.
Laurène Ben AimPascal PignyLuis Jaime Castro-VegaAlexandre BuffetLaurence AmarJérôme BertheratDelphine DruiIsabelle GuilhemEric BaudinCharlotte Lussey-LepoutreCarole CorsiniGérard ChabrierClaire BrietLaurence FaivreCatherine Cardot-BautersJudith FavierAnne-Paule Gimenez-RoqueploNelly BurnichonPublished in: Journal of medical genetics (2019)
The analysis of 824 DNAs from patients with PPGL demonstrated that NGS assay significantly improves the performances of PPGL genetic testing compared with conventional methods, increasing the rate of identified mutations and identifying rare genetic mechanisms.