RNA sequencing of cancer reveals novel splicing alterations

• DOI: 10.1038/srep01689
• Publication Date: 2013-04-22T09:07:52Z
• Authors: Jeyanthy Eswaran; Anelia Horvath; Sucheta Godbole; Sirigiri Divijend...; Prakriti Mudvari; Kazufumi Ohshiro; Dinesh Cyanam; Sujit Nair; Suzanne A. W. Fuqua; Kornelia Polyak; Liliana D. Florea; Rakesh Kumar
• Keywords: Exon skipping; splice

Breast cancer transcriptome acquires a myriad of regulation changes, and splicing is critical for the cell to "tailor-make" specific functional transcripts. We systematically revealed signatures three most common types breast tumors using RNA sequencing: TNBC, non-TNBC HER2-positive cancer. discovered subtype differentially spliced genes splice isoforms not previously recognized in human transcriptome. Further, we showed that exon skip intron retention are predominant events In addition, found differential expression primary transcripts promoter switching significantly deregulated compared normal breast. validated presence novel hybrid molecules like CDK4, LARP1, ADD3, PHLPP2. Our study provides first comprehensive portrait transcriptional sub-types, as well unknown prompt need complete annotation tissue disease