Cancer transcriptome profiling at the juncture of clinical translation

Nat Rev Genet. 2018 Feb;19(2):93-109. doi: 10.1038/nrg.2017.96. Epub 2017 Dec 27.


Methodological breakthroughs over the past four decades have repeatedly revolutionized transcriptome profiling. Using RNA sequencing (RNA-seq), it has now become possible to sequence and quantify the transcriptional outputs of individual cells or thousands of samples. These transcriptomes provide a link between cellular phenotypes and their molecular underpinnings, such as mutations. In the context of cancer, this link represents an opportunity to dissect the complexity and heterogeneity of tumours and to discover new biomarkers or therapeutic strategies. Here, we review the rationale, methodology and translational impact of transcriptome profiling in cancer.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Animals
  • Gene Expression Profiling / methods*
  • High-Throughput Nucleotide Sequencing / methods*
  • Humans
  • Neoplasms* / genetics
  • Neoplasms* / metabolism
  • RNA, Neoplasm* / genetics
  • RNA, Neoplasm* / metabolism
  • Sequence Analysis, RNA / methods*


  • RNA, Neoplasm