COMPREHENSIVE MOLECULAR CHARACTERIZATION OF CLEAR CELL RENAL CELL CARCINOMA
By The Cancer Genome Atlas Research Network. Nature, 2013
2,995 citations recorded by the source corpus.
Genetic changes underlying clear cell renal cell carcinoma (ccRCC) include alterations in genes controlling cellular oxygen sensing (for example, VHL) and the maintenance of chromatin states (for example, PBRM1). We surveyed more than 400 tumours using different genomic platforms and identified 19 significantly mutated genes. The PI(3)K/AKT pathway was recurrently mutated, suggesting this pathway as a potential therapeutic target. Widespread DNA hypomethylation was associated with mutation of the H3K36 methyltransferase SETD2, and integrative analysis suggested that mutations involving the SWI/SNF chromatin remodelling complex (PBRM1, ARID1A, SMARCA4) could have far-reaching effects on other pathways. Aggressive cancers demonstrated evidence of a metabolic shift, involving downregulation of genes involved in the TCA cycle, decreased AMPK and PTEN protein levels, upregulation of the pentose phosphate pathway and the glutamine transporter genes, increased acetyl-CoA carboxylase protein, and altered promoter methylation of miR-21 (also known as MIR21) and GRB10. Remodelling cellular metabolism thus constitutes a recurrent pattern in ccRCC that correlates with tumour stage and severity and offers new views on the opportunities for disease treatment.
Subfields: Cancer Research, Molecular Biology, Pulmonary and Respiratory Medicine
View Paper: https://www.semanticscholar.org/paper/f3eb7b002a112727ac614027a5845f9b29809eb7
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Citations in the corpus
- Preprocessing, normalization and integration of the Illumina HumanMethylationEPIC array with minfi (2016, methodology): “The minfiData27k package bundles 20 kidney samples (tumor and normal) assayed on the 27k array from the TCGA Kidney Renal Papillary Cell Carcinoma (KIRP) study (Cancer Genome Atlas Research Network, 2013).”
- Comprehensive Molecular Characterization of Urothelial Bladder Carcinoma (2014, background): “Solit (23), Oregon Health and Science University, Department of Urology - Theresa Koppie(24), Weill Medical College of Cornell University - Brian Robinson(32), National Institute of Environmental Health Sciences - Dmitry Gordenin(33), David Fargo(33), Leszek Klimczak(33), Steven Roberts(33), Optimum”