Recurrent activating mutation in PRKACA in cortisol-producing adrenal tumors

Adrenal tumors autonomously producing cortisol cause Cushing syndrome(1–4). Exome sequencing of 25 tumor-normal pairs revealed two groups. Eight tumors (including 3 carcinomas) had many somatic copy number variants (CNV+) with frequent deletion of CDC42 and CDKN2A, amplification of 5q31.2, and prote...

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Detalhes bibliográficos
Main Authors: Goh, Gerald, Scholl, Ute I., Healy, James M., Choi, Murim, Prasad, Manju L., Nelson-Williams, Carol, Kuntsman, John W., Korah, Reju, Suttorp, Anna-Carinna, Dietrich, Dimo, Haase, Matthias, Willenberg, Holger S., Stålberg, Peter, Hellman, Per, Åkerström, Göran, Björklund, Peyman, Carling, Tobias, Lifton, Richard P.
Formato: Artigo
Idioma:Inglês
Publicado em: 2014
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4074779/
https://ncbi.nlm.nih.gov/pubmed/24747643
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ng.2956
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