2016
DOI: 10.1016/j.ccell.2016.04.002
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Comprehensive Pan-Genomic Characterization of Adrenocortical Carcinoma

Abstract: SUMMARY We describe a comprehensive genomic characterization of adrenocortical carcinoma (ACC). Using this dataset, we expand the catalogue of known ACC driver genes to include PRKAR1A, RPL22, TERF2, CCNE1, and NF1. Genome wide DNA copy number analysis revealed frequent occurrence of massive DNA loss followed by whole genome doubling (WGD) which was associated with aggressive clinical course, suggesting WGD is a hallmark of disease progression. Corroborating this hypothesis were increased TERT expression, decr… Show more

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Cited by 540 publications
(863 citation statements)
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References 58 publications
(80 reference statements)
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“…A European study including 45 cases and validated in an independent cohort of 77 ACC has been the first to show that tumors in the C1A cluster, which is associated with a worse prognosis, have distinct methylation, mRNA and miRNA expression patterns, more frequent mutations in driver genes and higher global mutation rate than tumors belonging to the C1B cluster, characterized by more favorable prognosis . These findings were confirmed by another study performed on 91 ACCs from worldwide centers (Zheng et al 2016). In addition to the Wnt pathway (see above), an integrative genomic analysis of ACC revealed recurrent somatic alterations in TP53, 11p15, cell cycle regulation, telomere maintenance, chromatin remodeling and PKA pathway genes , Juhlin et al 2015, Zheng et al 2016.…”
Section: Molecular Markers Reveal Disease Mechanisms and Improve Patisupporting
confidence: 61%
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“…A European study including 45 cases and validated in an independent cohort of 77 ACC has been the first to show that tumors in the C1A cluster, which is associated with a worse prognosis, have distinct methylation, mRNA and miRNA expression patterns, more frequent mutations in driver genes and higher global mutation rate than tumors belonging to the C1B cluster, characterized by more favorable prognosis . These findings were confirmed by another study performed on 91 ACCs from worldwide centers (Zheng et al 2016). In addition to the Wnt pathway (see above), an integrative genomic analysis of ACC revealed recurrent somatic alterations in TP53, 11p15, cell cycle regulation, telomere maintenance, chromatin remodeling and PKA pathway genes , Juhlin et al 2015, Zheng et al 2016.…”
Section: Molecular Markers Reveal Disease Mechanisms and Improve Patisupporting
confidence: 61%
“…These findings were confirmed by another study performed on 91 ACCs from worldwide centers (Zheng et al 2016). In addition to the Wnt pathway (see above), an integrative genomic analysis of ACC revealed recurrent somatic alterations in TP53, 11p15, cell cycle regulation, telomere maintenance, chromatin remodeling and PKA pathway genes , Juhlin et al 2015, Zheng et al 2016. Interestingly, PKA pathway upregulation due to PRKACA-activating mutations is a hallmark of a subset of cortisol-secreting ACAs (Beuschlein et al 2014, Cao et al 2014, Goh et al 2014, Sato et al 2014.…”
Section: Molecular Markers Reveal Disease Mechanisms and Improve Patisupporting
confidence: 57%
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