Identification of fusion genes in breast cancer by paired-end RNA-sequencing.

ABSTRACT:

Background

Until recently, chromosomal translocations and fusion genes have been an underappreciated class of mutations in solid tumors. Next-generation sequencing technologies provide an opportunity for systematic characterization of cancer cell transcriptomes, including the discovery of expressed fusion genes resulting from underlying genomic rearrangements.

Results

We applied paired-end RNA-seq to identify 24 novel and 3 previously known fusion genes in breast cancer cells. Supported by an improved bioinformatic approach, we had a 95% success rate of validating gene fusions initially detected by RNA-seq. Fusion partner genes were found to contribute promoters (5' UTR), coding sequences and 3' UTRs. Most fusion genes were associated with copy number transitions and were pa

SUBMITTER: Edgren H 

PROVIDER: S-EPMC3091304 | biostudies-literature | 2011

REPOSITORIES: biostudies-literature