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Cancers 2015, 7(4), 2183-2200; doi:10.3390/cancers7040885

Revealing the Complexity of Breast Cancer by Next Generation Sequencing

Laboratory of Clinical Chemistry, Faculty of Medicine, School of Health Sciences, University of Ioannina, Ioannina 45110, Greece
Department of Biomedical Research, Institute of Molecular Biology & Biotechnology,Foundation for Research & Technology-Hellas, Ioannina 45110, Greece
Author to whom correspondence should be addressed.
Academic Editors: Camile S. Farah and William Chi-shing Cho
Received: 28 June 2015 / Revised: 18 October 2015 / Accepted: 26 October 2015 / Published: 6 November 2015
(This article belongs to the Special Issue Next Generation Sequencing Approaches in Cancer)
View Full-Text   |   Download PDF [258 KB, uploaded 6 November 2015]


Over the last few years the increasing usage of “-omic” platforms, supported by next-generation sequencing, in the analysis of breast cancer samples has tremendously advanced our understanding of the disease. New driver and passenger mutations, rare chromosomal rearrangements and other genomic aberrations identified by whole genome and exome sequencing are providing missing pieces of the genomic architecture of breast cancer. High resolution maps of breast cancer methylomes and sequencing of the miRNA microworld are beginning to paint the epigenomic landscape of the disease. Transcriptomic profiling is giving us a glimpse into the gene regulatory networks that govern the fate of the breast cancer cell. At the same time, integrative analysis of sequencing data confirms an extensive intertumor and intratumor heterogeneity and plasticity in breast cancer arguing for a new approach to the problem. In this review, we report on the latest findings on the molecular characterization of breast cancer using NGS technologies, and we discuss their potential implications for the improvement of existing therapies. View Full-Text
Keywords: breast cancer; next-generation sequencing; intratumor heterogeneity; driver genes; targeted therapy; gene fusions breast cancer; next-generation sequencing; intratumor heterogeneity; driver genes; targeted therapy; gene fusions
This is an open access article distributed under the Creative Commons Attribution License which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. (CC BY 4.0).

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Verigos, J.; Magklara, A. Revealing the Complexity of Breast Cancer by Next Generation Sequencing. Cancers 2015, 7, 2183-2200.

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