Exome sequencing identifies MAX mutations as a cause of hereditary pheochromocytoma

@article{CominoMndez2011ExomeSI,
  title={Exome sequencing identifies MAX mutations as a cause of hereditary pheochromocytoma},
  author={I{\~n}aki Comino-M{\'e}ndez and Francisco Javier Gracia-Azn{\'a}rez and Francesca Schiavi and Iňigo Landa and Luis Javier Leandro-Garc{\'i}a and Roc{\'i}o Let{\'o}n and Emiliano Honrado and Roc{\'i}o Ramos-Medina and Daniela Caronia and Guillermo Pita and {\'A}lvaro G{\'o}mez-Gra{\~n}a and Aguirre A. de Cubas and Lucia Inglada-Perez and Agnieszka Maliszewska and Elisa Taschin and Sara Bobisse and Giuseppe Pica and Paola Loli and Rafael Hern{\'a}ndez-Lavado and Jos{\'e} Angel D{\'i}az and Mercedes G{\'o}mez-Morales and Anna Gonz{\'a}lez-Neira and Giovanna Roncador and Cristina Rodr{\'i}guez-Antona and Javier Ben{\'i}tez and Massimo Mannelli and Giuseppe Opocher and Mercedes Robledo and Alberto Casc{\'o}n},
  journal={Nature Genetics},
  year={2011},
  volume={43},
  pages={663-667}
}
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… Expand
MAX Mutations Cause Hereditary and Sporadic Pheochromocytoma and Paraganglioma
TLDR
Germline mutations in MAX are responsible for 1.12% of PCC/PGL in patients without evidence of other known mutations and should be considered in the genetic work-up of these patients. Expand
Human Cancer Biology MAX Mutations Cause Hereditary and Sporadic Pheochromocytoma and Paraganglioma
Purpose: Pheochromocytomas (PCC) and paragangliomas (PGL) are genetically heterogeneous neural crest–derived neoplasms. Recently we identified germline mutations in a new tumor suppressorExpand
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TLDR
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TLDR
The results indicate that large genomic deletions of MAX should be considered in familial and bilateral PCC with prior negative testing for gene mutations and confirm that MAX is a tumor suppressor gene for renal oncocytomas. Expand
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TLDR
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TLDR
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TLDR
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TLDR
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