Gastric & Breast Cancer e-journal
DOI: 10.2122/gbc.2012.0205
PERSPECTIVE
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From whole-genome sequencing to gene expression regulation: Perspectives for improving oncological outcomes. |
Dimitrios H. Roukos, MD, PhD.
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Affiliation: 1 Personalized Cancer Genomics Medicine, Ioannina University School of Medicine, Ioannina, 45110 Greece.
2 Department of Surgery, Ioannina University School of Medicine, Ioannina, 45110 Greece.
T: +302651007423, F: +302651007094
E-mail: droukos@uoi.gr |
ABSTRACT
Next-generation sequencing (NGS) has revolutionized biomedical research. The NGS platforms for whole-genome and exome sequencing, epigenome and transcriptome sequencing provide unprecedented ability for deeper insights into structure and function of cells genomes in healthy and cancer. Here, I discuss challenges and perspectives of fascinating research for identifying mutations (SNPs, insertions, deletions, copy-number alterations, translocations) and understanding functional regulatory circuits driving gene expression. Applications of all these NGS-based advances into targeted therapy, such as PLX4032 ( vemurafenib) for the treatment of melanoma patients with V600E mutation in the BRAF gene, and hope for improving survival are also summarized.
(Citation: Gastric & Breast Cancer 2012; 11(1): 1-6)
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