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Identification of Biomarkers and Expression Signatures

  • Patricia Severino
  • Elisa Napolitano Ferreira
  • Dirce Maria Carraro
Chapter

Abstract

Recently, molecular biology has been substantially improved by the development of new technologies that allow the assessment of the genome, transcriptome and proteome on a high-throughput scale and at reasonable costs. The translation of all the information generated by these technologies into new biomarkers is an enormous challenge for the biomedical community, and vast efforts have been made in this arena. The practice of personalized medicine based on DNA/RNA information used for clinical decision-making has led to considerable advances in different areas of medicine and is now a reality at several medical centers worldwide. The aspiration is that in the near future, the medical community will have more and more available biomarkers to properly classify patients and to allow them to offer efficient and tailored treatment for a broader range of diseases, resulting in a high cure rate and minimal side effects. In this chapter, we discuss the identification of biomarkers by primarily examining gene expression. Two of the most important approaches, microarrays and RNA sequencing (RNA-Seq), and strategies for defining gene expression signatures are addressed. We also present important aspects involved in the validation of gene expression signatures as biomarkers, the bottlenecks and difficulties for their broader use in clinical practice and some good examples of signatures representing aspects of human diseases.

Keywords

Gene Expression Signature Mismatch Repair Pathway Monitoring Treatment Efficacy Potential Gene Expression MammaPrint Test 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

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Copyright information

© Springer International Publishing Switzerland 2014

Authors and Affiliations

  • Patricia Severino
    • 1
  • Elisa Napolitano Ferreira
    • 2
  • Dirce Maria Carraro
    • 2
  1. 1.Instituto Israelita de Ensino e Pesquisa Albert EinsteinSão PauloBrazil
  2. 2.A. C. Camargo Cancer CenterSão PauloBrazil

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