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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
7
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pubmed:dateCreated |
2011-6-28
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pubmed:abstractText |
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.
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
IM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:month |
Jul
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pubmed:issn |
1546-1718
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pubmed:author |
pubmed-author:BenítezJavierJ,
pubmed-author:BobisseSaraS,
pubmed-author:CaroniaDanielaD,
pubmed-author:CascónAlbertoA,
pubmed-author:Comino-MéndezIñakiI,
pubmed-author:DiazJose IJI,
pubmed-author:Gómez-GrañaAlvaroA,
pubmed-author:Gómez-MoralesMercedesM,
pubmed-author:González-NeiraAnnaA,
pubmed-author:Gracia-AznárezFrancisco JFJ,
pubmed-author:Hernández-LavadoRafaelR,
pubmed-author:HonradoEmilianoE,
pubmed-author:Inglada-PérezLucíaL,
pubmed-author:LandaIñigoI,
pubmed-author:Leandro-GarcíaLuis JLJ,
pubmed-author:LetónRocíoR,
pubmed-author:LoliPaolaP,
pubmed-author:MaliszewskaAgnieszkaA,
pubmed-author:MannelliMassimoM,
pubmed-author:OpocherGiuseppeG,
pubmed-author:PicaGiuseppeG,
pubmed-author:PitaGuillermoG,
pubmed-author:Ramos-MedinaRocíoR,
pubmed-author:RobledoMercedesM,
pubmed-author:Rodríguez-AntonaCristinaC,
pubmed-author:RoncadorGiovannaG,
pubmed-author:SchiaviFrancescaF,
pubmed-author:TaschinElisaE,
pubmed-author:de CubasAguirre AAA
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pubmed:issnType |
Electronic
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pubmed:volume |
43
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
663-7
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pubmed:meshHeading |
pubmed-meshheading:21685915-Adolescent,
pubmed-meshheading:21685915-Adrenal Gland Neoplasms,
pubmed-meshheading:21685915-Adult,
pubmed-meshheading:21685915-Aged,
pubmed-meshheading:21685915-Aged, 80 and over,
pubmed-meshheading:21685915-Amino Acid Sequence,
pubmed-meshheading:21685915-Base Sequence,
pubmed-meshheading:21685915-Basic Helix-Loop-Helix Leucine Zipper Transcription Factors,
pubmed-meshheading:21685915-Basic-Leucine Zipper Transcription Factors,
pubmed-meshheading:21685915-Child,
pubmed-meshheading:21685915-Child, Preschool,
pubmed-meshheading:21685915-Exons,
pubmed-meshheading:21685915-Female,
pubmed-meshheading:21685915-Follow-Up Studies,
pubmed-meshheading:21685915-Genetic Predisposition to Disease,
pubmed-meshheading:21685915-Germ-Line Mutation,
pubmed-meshheading:21685915-Humans,
pubmed-meshheading:21685915-Loss of Heterozygosity,
pubmed-meshheading:21685915-Male,
pubmed-meshheading:21685915-Middle Aged,
pubmed-meshheading:21685915-Molecular Sequence Data,
pubmed-meshheading:21685915-Neuroblastoma,
pubmed-meshheading:21685915-Pheochromocytoma,
pubmed-meshheading:21685915-Polymerase Chain Reaction,
pubmed-meshheading:21685915-Polymorphism, Single Nucleotide,
pubmed-meshheading:21685915-Sequence Homology, Amino Acid,
pubmed-meshheading:21685915-Uniparental Disomy,
pubmed-meshheading:21685915-Young Adult
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pubmed:year |
2011
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pubmed:articleTitle |
Exome sequencing identifies MAX mutations as a cause of hereditary pheochromocytoma.
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pubmed:affiliation |
Hereditary Endocrine Cancer Group, Spanish National Cancer Research Centre (CNIO), Madrid, Spain.
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
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