Co-occurrence of mutations in and other susceptibility genes in pheochromocytoma and paraganglioma.

The percentage of patients diagnosed with pheochromocytoma and paraganglioma (altogether PPGL) carrying known germline mutations in one of the over fifteen susceptibility genes identified to date has dramatically increased during the last two decades, accounting for up to 35-40% of PPGL patients. Mo...

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Detalles Bibliográficos
Autores: Mellid, Sara, Gil, Eduardo, Letón, Rocío, Caleiras, Eduardo, Honrado, Emiliano, Richter, Susan, Palacios, Nuria, Lahera, Marcos, Galofré, Juan C, López-Fernández, Adriá, Calatayud, Maria, Herrera-Martínez, Aura D, Galvez, María A, Matias-Guiu, Xavier, Balbín, Milagros, Korpershoek, Esther, Lim, Eugénie S, Maletta, Francesca, Lider, Sofia, Fliedner, Stephanie M J, Bechmann, Nicole, Eisenhofer, Graeme, Canu, Letizia, Rapizzi, Elena, Bancos, Irina, Robledo Batanero, Mercedes, Cascon Soriano, Alberto
Tipo de recurso: artículo
Fecha de publicación:2022
País:España
Institución:Instituto de Salud Carlos III (ISCIII)
Repositorio:Repisalud
Idioma:inglés
OAI Identifier:oai:repisalud.isciii.es:20.500.12105/26049
Acceso en línea:https://hdl.handle.net/20.500.12105/26049
Access Level:acceso abierto
Palabra clave:DLST
MDH2
NF1
co-occurrent mutations
germline mutation
pheochromocytoma
Descripción
Sumario:The percentage of patients diagnosed with pheochromocytoma and paraganglioma (altogether PPGL) carrying known germline mutations in one of the over fifteen susceptibility genes identified to date has dramatically increased during the last two decades, accounting for up to 35-40% of PPGL patients. Moreover, the application of NGS to the diagnosis of PPGL detects unexpected co-occurrences of pathogenic allelic variants in different susceptibility genes.

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