germline mutation
hereditary
human
neoplastic syndromes
paragangliomas
pheochromocytomas
succinate dehydrogenase subunit B
Journal
Frontiers in genetics
ISSN: 1664-8021
Titre abrégé: Front Genet
Pays: Switzerland
ID NLM: 101560621
Informations de publication
Date de publication:
2022
2022
Historique:
received:
20
07
2022
accepted:
08
11
2022
entrez:
23
1
2023
pubmed:
24
1
2023
medline:
24
1
2023
Statut:
epublish
Résumé
Pheochromocytomas (PCCs) and paragangliomas (PGLs) (known as PPGL in combination) are rare neuroendocrine tumors of the adrenal medulla and extra-adrenal ganglia. About 40% of the patients with PPGL have a hereditary predisposition. Here we present a case-series of 19 unrelated Colombian patients with a clinical diagnosis of PPGL tumors that underwent germline genetic testing as part of the Hereditary Cancer Program developed at the Instituto Nacional de Cancerología, Colombia (INC-C), the largest reference cancer center in the country. Ten of 19 patients (52.63%) were identified as carriers of a pathogenic/likely pathogenic (P/LP) germline variant in a known susceptibility gene. The majority of the P/LP variants were in the
Identifiants
pubmed: 36685941
doi: 10.3389/fgene.2022.999329
pii: 999329
pmc: PMC9845289
doi:
Types de publication
Journal Article
Langues
eng
Pagination
999329Informations de copyright
Copyright © 2023 Manotas, Rivera, Gómez, Abisambra, Guevara, Medina, Tapiero, Huertas, Riaño-Moreno, Mejía, Gonzalez-Clavijo, Tapiero-García, Cuéllar-Cuéllar, Fierro-Maya and Sanabria-Salas.
Déclaration de conflit d'intérêts
The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest.
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