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.

Complexity of genome sequencing and reporting: Next generation sequencing (NGS) technologies and implementation of precision medicine in real life / S. Morganti, P. Tarantino, E. Ferraro, P. D'Amico, G. Viale, D. Trapani, B.A. Duso, G. Curigliano. - In: CRITICAL REVIEWS IN ONCOLOGY HEMATOLOGY. - ISSN 1040-8428. - 133(2019 Jan), pp. 171-182.

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

S. Morganti
Primo
;
P. Tarantino
Secondo
;
E. Ferraro;P. D'Amico;G. Viale;D. Trapani;B.A. Duso
Penultimo
;
G. Curigliano
Ultimo
Writing – Original Draft Preparation
2019

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.
Driver mutations; Liquid biopsy; Next generation sequencing; Precision medicine; Predictive biomarkers; Tumor heterogeneity; Tumor mutational burden; Hematology; Oncology
Settore MED/06 - Oncologia Medica
gen-2019
Article (author)
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/2434/623297
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