Insights into the genetic landscape of pheochromocytomas and paragangliomas in a Brazilian cohort.

doi:10.1093/ejendo/lvae160

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Article

Insights into the genetic landscape of pheochromocytomas and paragangliomas in a Brazilian cohort.

European journal of endocrinology - 6 Jan 2025

Fagundes Gustavo F C, Freitas-Castro Felipe, Santana Lucas S, Ledesma Felipe L, Petenuci Janaina, Afonso Ana Caroline F, Pereira Caio A A, Maciel Ana Alice W, Soares Ibere C, Gomes Nathalia L, Lourenço Delmar M, Pereira Maria Adelaide A, Srougi Victor, Tanno Fabio Y, Chambo Jose L, Fragoso Maria Candida B V, Hoff Ana O, Mendonca Berenice B, Latronico Ana Claudia, Almeida Madson Q

Abstract excerpt

OBJECTIVE: Germline and somatic drivers are identified in 30% and 40% of pheochromocytomas and paragangliomas (PPGLs), respectively. In this study, we investigated the genetic landscape of PPGLs in a Brazilian cohort. METHODS: We studied 182 index patients with PPGLs (116 females and 66 males), comprising 118 pheochromocytoma and 70 paraganglioma cases. Our optimized sequencing strategy included SANGER...

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PMID: 39688739
DOI: 10.1093/ejendo/lvae160

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