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...

Celý popis

Uloženo v:
Podrobná bibliografie
Vydáno v:J Endocr Soc
Hlavní autoři: Salle, Stefanie Parisien-La, Dumas, Nadine, Jolin, Judith, Nolet, Serge, Lacroix, André, Lévesque, Isabelle, Burnichon, Nelly, Gimenez-Roqueplo, Anne-Paule, Bourdeau, Isabelle
Médium: Artigo
Jazyk:Inglês
Vydáno: Oxford University Press 2020
Témata:
Adrenal
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC7209502/
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1210/jendso/bvaa046.453
Tagy: Přidat tag
Žádné tagy, Buďte první, kdo otaguje tento záznam!

Podobné jednotky