Unknown,Transcriptomics,Genomics,Proteomics

Dataset Information

Genotyping by whole-exome sequencing of human with hereditary pheochromocytoma

ABSTRACT: Whole exome sequencing identification of Max mutations and further validation in pheochromocytoma patients

ORGANISM(S): Homo sapiens

DISEASE(S): Hereditary pheochromocytoma

SUBMITTER: Alberto Cascon

PROVIDER: E-MTAB-591 | biostudies-arrayexpress |

REPOSITORIES: biostudies-arrayexpress

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Publications

Exome sequencing identifies MAX mutations as a cause of hereditary pheochromocytoma.

Comino-Méndez Iñaki I Gracia-Aznárez Francisco J FJ Schiavi Francesca F Landa Iñigo I Leandro-García Luis J LJ Letón Rocío R Honrado Emiliano E Ramos-Medina Rocío R Caronia Daniela D Pita Guillermo G Gómez-Graña Alvaro A de Cubas Aguirre A AA Inglada-Pérez Lucía L Inglada-Pérez Lucía L Maliszewska Agnieszka A Taschin Elisa E Bobisse Sara S Pica Giuseppe G Loli Paola P Hernández-Lavado Rafael R Díaz José A JA Gómez-Morales Mercedes M González-Neira Anna A Roncador Giovanna G Rodríguez-Antona Cristina C Benítez Javier J Mannelli Massimo M Opocher Giuseppe G Robledo Mercedes M Cascón Alberto A

Nature genetics 20110619 7

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. ...[more]

PMID: 21685915

Dataset Information

Genotyping by whole-exome sequencing of human with hereditary pheochromocytoma

Publications

Exome sequencing identifies MAX mutations as a cause of hereditary pheochromocytoma.

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