Cargando…
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...
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 |
Ejemplares similares
-
A SDHC Founder Mutation Causes Paragangliomas (PGLs) in the French Canadians: New Insights on the SDHC-Related PGL
por: Bourdeau, Isabelle, et al.
Publicado: (2016) -
OR08-05 Case Series Of French Canadian Patients With Paragangliomas Carrying The c.397C>T SDHC Mutation: Insights On SDHC Phenotype And Outcomes
por: Salle, Stefanie Parisien-La, et al.
Publicado: (2023) -
MON-209 Identification of a New Heterozygous Germline ARMC5 Deletion in a Familial Case of Primary Bilateral Macronodular Adrenal Hyperplasia Co-Secreting Cortisol and Aldosterone
por: Salle, Stefanie Parisien-La, et al.
Publicado: (2020) -
ODP051 Presymptomatic Genetic Screening Leading to the Diagnosis of Paraganglioma Associated with Duodenal and Pancreatic Neuroendocrine Tumours in a Carrier of a Pathogenic MAX Variant
por: Salle, Stefanie Parisien-La, et al.
Publicado: (2022) -
Mutational Profile of Metastatic Pheochromocytoma and Paraganglioma
por: Choi, Yun Mi, et al.
Publicado: (2021)