Article
Exome sequencing identifies MAX mutations as a cause of hereditary pheochromocytoma.
Nature genetics - 19 Jun 2011
Comino-Méndez Iñaki, Gracia-Aznárez Francisco J, Schiavi Francesca, Landa Iñigo, Leandro-García Luis J, Letón Rocío, Honrado Emiliano, Ramos-Medina Rocío, Caronia Daniela, Pita Guillermo, Gómez-Graña Alvaro, de Cubas Aguirre A, Inglada-Pérez Lucía, Maliszewska Agnieszka, Taschin Elisa, Bobisse Sara, Pica Giuseppe, Loli Paola, Hernández-Lavado Rafael, Díaz José A, Gómez-Morales Mercedes, González-Neira Anna, Roncador Giovanna, Rodríguez-Antona Cristina, Benítez Javier, Mannelli Massimo, Opocher Giuseppe, Robledo Mercedes, Cascón Alberto
Abstract excerpt
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...
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