Complexity of genome sequencing and reporting: Next generation sequencing (NGS) technologies and implementation of precision medicine in real life. (January 2019)

• Record Type: Journal Article
• Authors: Morganti, Stefania; Tarantino, Paolo; Ferraro, Emanuela; D'Amico, Paolo; Viale, Giulia; Trapani, Dario; Duso, Bruno Achutti; Curigliano, Giuseppe
• Is Part Of: Critical reviews in oncology/hematology. Volume 133(2019)
• Page Start: 171
• Page End: 182
• Publication Date: 2019-01
• Subjects: Precision medicine -- Next generation sequencing -- Liquid biopsy -- Predictive biomarkers -- Tumor mutational burden -- Driver mutations -- Tumor heterogeneity; Oncology -- Periodicals; Hematology -- Periodicals; 616.994
• DOI: 10.1016/j.critrevonc.2018.11.008
• Languages: English
• ISSNs: 1040-8428

Abstract

Graphical abstract: Abstract: The finalization of the Human Genome Project in 2003 paved the way for a deeper understanding of cancer, favouring a faster progression towards "personalized" medicine. Research in oncology has progressively focused on the sequencing of cancer genomes, to better understand the genetic basis of tumorigenesis and identify actionable alterations to guide cancer therapy. Thanks to the development of next-generation-sequencing (NGS) techniques, sequencing of tumoral DNA is today technically easier, faster and cheaper. Commercially available NGS panels enable the detection of single or global genomic alterations, namely gene mutation and mutagenic burden, both on germline and somatic DNA, potentially predicting the response or resistance to cancer treatments. Profiling of tumor DNA is nowadays a standard in cancer research and treatment. In this review we discuss the history, techniques and applications of NGS in cancer care, under a "personalized tailored therapy" perspective.