RNA Sequencing
RNA-Seq technology is providing fresh biological insight into the transcriptome. At its most powerful, it can be used to determine the structure of genes, their splicing patterns and other post transcriptional modifications such as gene fusions…

Whole-genome DNA sequencing studies have identified numerous chromosomal translocations that potentially result in gene fusions; however, it is uncertain how many of the fusion genes are actually expressed. Alternatively, RNA-sequencing provides a more efficient approach to directly identify transcripts generated by gene fusions that could be translated into tumorigenic chimeric proteins1.

The biogenesis, development and metastases of cancer are associated with many variations in the transcriptome. Alternative splicing of genes is a major post-transcriptional regulation mechanism that is involved in many types of cancer. The next-generation sequencing applied on RNAs (RNA-Seq) provides a new technology for studying transcriptomes. It provides an unprecedented opportunity for quantitatively studying alternative splicing in a systematic way2.

Recurrent gene rearrangements play significant roles in subsets of carcinomas and suggest that transcriptome sequencing may serve to identify patients with rare, actionable gene fusions. The identification of gene-fusions may be important for the development of personalized therapies for a subgroup of breast cancer patients3.