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Article

Prevalence of germline variants in USP8, USP48, CABLES1 and PAM in patients with pituitary adenomas.

European journal of endocrinology - 30 Apr 2026

Martinez de Lapiscina Idoia, Baquero Candela, Santos Alicia, Molina Ana Rosa, Moure Maria Dolores, Aramburu Maite, Bancalari Rodrigo, Boronat Mauro, Bueno Gloria, Casano-Sancho Paula, Fernandez-Ramos Concepcion, Garcia-Garcia Emilio, Gonzalez Amparo, Gonzalez-Rivera Natividad, Guerrero-Fernandez Julio, Hernandez Maria Isabel, Paja Miguel, Portillo Nancy, Rica Itxaso, Soto-Moreno Alfonso, Suarez-Ortega Larisa, Vela Amaia, Castaño Luis, Valdes Nuria

Abstract excerpt

OBJECTIVE: Approximately 5% of pituitary adenomas (PA) are familial, linked to germline variants in AIP, or syndrome-related genes like MEN1. While somatic GNAS and USP8 variants predominate in specific subtypes, PAM and CABLES1 genes are emerging. DESIGN: To investigate the prevalence and clinical significance of germline variants in CABLES1, USP8, USP48, and PAM in patients with PA without established...

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Source

Identifiers

PMID: 42045809
DOI: 10.1093/ejendo/lvag074

Genes

CABLES1
USP48
USP8
PAM
AIP
GNAS
MEN1
CDKN1B
DICER1
SDHB
SDHC
SDHD

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

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