Article
Recurrent activating mutation in PRKACA in cortisol-producing adrenal tumors.
Nature genetics - 1 Jun 2014
Goh Gerald, Scholl Ute I, Healy James M, Choi Murim, Prasad Manju L, Nelson-Williams Carol, Kunstman John W, Kuntsman John W, Korah Reju, Suttorp Anna-Carinna, Dietrich Dimo, Haase Matthias, Willenberg Holger S, Stålberg Peter, Hellman Per, Akerström Göran, Björklund Peyman, Carling Tobias, Lifton Richard P
Abstract excerpt
Adrenal tumors autonomously producing cortisol cause Cushing's syndrome. We performed exome sequencing of 25 tumor-normal pairs and identified 2 subgroups. Eight tumors (including three carcinomas) had many somatic copy number variants (CNVs) with frequent deletion of CDC42 and CDKN2A, amplification of 5q31.2 and protein-altering mutations in TP53 and RB1. Seventeen tumors (all adenomas) had no somatic CNVs or...
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