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Next-Generation Sequencing for Cancer Biomarker Discovery

  • Chapter
Next Generation Sequencing in Cancer Research, Volume 2

Abstract

Cancer is a genetic disorder that arises from gene mutations as well as changes in transcriptional and epigenetic profiles. These genetic changes can serve as valuable biomarkers for early detection, staging, and detailed molecular characterization of cancer for individualized therapy. Mutations in several known oncogenes (e.g., EGFR, HER2, KRAS) and tumor suppressor genes (e.g., TP53, PTEN, PI3K) are already being used as biomarkers to guide therapy in breast cancer, ovarian cancer, lung cancer, prostate cancer, etc. However, tumor heterogeneity and instability of cancer genomes poses a significant challenge to reliable and reproducible detection of biomarkers. Moreover, cancer is a multigene disorder and comprehensive knowledge of the mutational landscape is extremely important for the most effective therapeutic intervention.

Next-Generation Sequencing (NGS) is a high-throughput genome sequencing technology that enables sequencing of entire genomes or thousands of mutations simultaneously in a cost effective manner and hence can serve as a very powerful tool in biomarker detection and discovery. Many NGS-based studies published in the last few years have identified potential prognostic and predictive molecular signatures. In this chapter, we discuss the impact of NGS on cancer biomarker detection as well as discovery and the resulting paradigm shift in cancer care.

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  1. Persistent Labs, Persistent Systems Ltd., Pingala – Aryabhata 12A/12, Off Karve Road, Erandwane, Pune, Maharashtra, 411004, India

    Aarti N. Desai Ph.D. & Abhay Jere Ph.D.

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Correspondence to Abhay Jere Ph.D. .

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  1. Department of Pathology and Laboratory, Medicine, Southern Alberta Cancer Research Institute, University of Calgary, Calgary, Alberta, Canada

    Wei Wu

  2. Faculty of Science, Biochemistry Department, Center of Innovation in Personalized Medicine, King Fahd Center for Medical Research, King Abdulaziz University, Jeddah, Saudi Arabia

    Hani Choudhry

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Desai, A.N., Jere, A. (2015). Next-Generation Sequencing for Cancer Biomarker Discovery. In: Wu, W., Choudhry, H. (eds) Next Generation Sequencing in Cancer Research, Volume 2. Springer, Cham. https://doi.org/10.1007/978-3-319-15811-2_7

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