Article
MAX mutations cause hereditary and sporadic pheochromocytoma and paraganglioma.
Clinical cancer research : an official journal of the American Association for Cancer Research - 15 May 2012
Burnichon Nelly, Cascón Alberto, Schiavi Francesca, Morales Nicole Paes, Comino-Méndez Iñaki, Abermil Nasséra, Inglada-Pérez Lucía, de Cubas Aguirre A, Amar Laurence, Barontini Marta, de Quirós Sandra Bernaldo, Bertherat Jérôme, Bignon Yves-Jean, Blok Marinus J, Bobisse Sara, Borrego Salud, Castellano Maurizio, Chanson Philippe, Chiara María-Dolores, Corssmit Eleonora P M, Giacchè Mara, de Krijger Ronald R, Ercolino Tonino, Girerd Xavier, Gómez-García Encarna B, Gómez-Graña Alvaro, Guilhem Isabelle, Hes Frederik J, Honrado Emiliano, Korpershoek Esther, Lenders Jacques W M, Letón Rocío, Mensenkamp Arjen R, Merlo Anna, Mori Luigi, Murat Arnaud, Pierre Peggy, Plouin Pierre-François, Prodanov Tamara, Quesada-Charneco Miguel, Qin Nan, Rapizzi Elena, Raymond Victoria, Reisch Nicole, Roncador Giovanna, Ruiz-Ferrer Macarena, Schillo Frank, Stegmann Alexander P A, Suarez Carlos, Taschin Elisa, Timmers Henri J L M, Tops Carli M J, Urioste Miguel, Beuschlein Felix, Pacak Karel, Mannelli Massimo, Dahia Patricia L M, Opocher Giuseppe, Eisenhofer Graeme, Gimenez-Roqueplo Anne-Paule, Robledo Mercedes
Abstract excerpt
PURPOSE: Pheochromocytomas (PCC) and paragangliomas (PGL) are genetically heterogeneous neural crest-derived neoplasms. Recently we identified germline mutations in a new tumor suppressor susceptibility gene, MAX (MYC-associated factor X), which predisposes carriers to PCC. How MAX mutations contribute to PCC/PGL and associated phenotypes remain unclear. This study aimed to examine the prevalence and associated...
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