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MON-212 Genetic Spectrum Of A Canadian Cohort Of Sporadic Pheochromocytomas And Paragangliomas: Higher Prevalence Of Germline Mutations In PGL And NGS Assay With A Multigene Panel Increases The Mutation Rate

Background: Pheochromocytomas (PHEOs) and paragangliomas (PGLs) (PPGLs) are rare tumors with a high heritability. The prevalence of germline mutations in sporadic PPGLs varies depending of series. Objective: To determine the prevalence and spectrum of germline mutations in our cohort of patients wit...

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Detalles Bibliográficos
Autores principales: Salle, Stefanie Parisien-La, Dumas, Nadine, Jolin, Judith, Nolet, Serge, Lacroix, André, Lévesque, Isabelle, Burnichon, Nelly, Gimenez-Roqueplo, Anne-Paule, Bourdeau, Isabelle
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7209502/
http://dx.doi.org/10.1210/jendso/bvaa046.453