Ontology highlight
ABSTRACT:
SUBMITTER: Beuschlein F
PROVIDER: S-EPMC4727447 | biostudies-literature | 2014 Mar
REPOSITORIES: biostudies-literature
Beuschlein Felix F Fassnacht Martin M Assié Guillaume G Calebiro Davide D Stratakis Constantine A CA Osswald Andrea A Ronchi Cristina L CL Wieland Thomas T Sbiera Silviu S Faucz Fabio R FR Schaak Katrin K Schmittfull Anett A Schwarzmayr Thomas T Barreau Olivia O Vezzosi Delphine D Rizk-Rabin Marthe M Zabel Ulrike U Szarek Eva E Salpea Paraskevi P Forlino Antonella A Vetro Annalisa A Zuffardi Orsetta O Kisker Caroline C Diener Susanne S Meitinger Thomas T Lohse Martin J MJ Reincke Martin M Bertherat Jérome J Strom Tim M TM Allolio Bruno B
The New England journal of medicine 20140226 11
<h4>Background</h4>Corticotropin-independent Cushing's syndrome is caused by tumors or hyperplasia of the adrenal cortex. The molecular pathogenesis of cortisol-producing adrenal adenomas is not well understood.<h4>Methods</h4>We performed exome sequencing of tumor-tissue specimens from 10 patients with cortisol-producing adrenal adenomas and evaluated recurrent mutations in candidate genes in an additional 171 patients with adrenocortical tumors. We also performed genomewide copy-number analysi ...[more]