2026-08-05T13:04:44Zhttps://repisalud.isciii.es/rest/oai/request

oai:repisalud.isciii.es:20.500.12105/260672025-12-18T12:54:31Zcom_20.500.12105_2273com_20.500.12105_2202col_20.500.12105_19571

00925njm 22002777a 4500 dc Comino-Méndez, Iñaki author Gracia-Aznárez, Francisco J author Schiavi, Francesca author Landa, Iñigo author Leandro-García, Luis J author Letón, Rocío author Honrado, Emiliano author Ramos-Medina, Rocío author Caronia, Daniela author Pita, Guillermo author Gómez-Graña, Alvaro author de Cubas, Aguirre A author Inglada-Pérez, Lucía author Maliszewska, Agnieszka author Taschin, Elisa author Bobisse, Sara author Pica, Giuseppe author Loli, Paola author Hernández-Lavado, Rafael author Díaz, José A author Gómez-Morales, Mercedes author González-Neira, Anna author Roncador, Giovanna author Rodríguez-Antona, Cristina author Benítez, Javier author Mannelli, Massimo author Opocher, Giuseppe author Robledo, Mercedes author Cascon Soriano, Alberto author Roncador, Giovanna author 2011-06-19 Hereditary pheochromocytoma (PCC) is often caused by germline mutations in one of nine susceptibility genes described to date, but there are familial cases without mutations in these known genes. We sequenced the exomes of three unrelated individuals with hereditary PCC (cases) and identified mutations in MAX, the MYC associated factor X gene. Absence of MAX protein in the tumors and loss of heterozygosity caused by uniparental disomy supported the involvement of MAX alterations in the disease. A follow-up study of a selected series of 59 cases with PCC identified five additional MAX mutations and suggested an association with malignant outcome and preferential paternal transmission of MAX mutations. The involvement of the MYC-MAX-MXD1 network in the development and progression of neural crest cell tumors is further supported by the lack of functional MAX in rat PCC (PC12) cells and by the amplification of MYCN in neuroblastoma and suggests that loss of MAX function is correlated with metastatic potential. Nat Genet . 2011 Jun 19;43(7):663-7 Nature Genetics 21685915 https://hdl.handle.net/20.500.12105/26067 UNIPARENTAL DISOMY C-MYC DIMERIZATION PARTNER PARAGANGLIOMA CELL-LINE GENE TUMOR TRANSCRIPTION ACTIVATION COMPLEX Exome sequencing identifies MAX mutations as a cause of hereditary pheochromocytoma.