TY - JOUR
T1 - Complexity of genome sequencing and reporting
T2 - Next generation sequencing (NGS) technologies and implementation of precision medicine in real life
AU - Morganti, Stefania
AU - Tarantino, Paolo
AU - Ferraro, Emanuela
AU - D'Amico, Paolo
AU - Viale, Giulia
AU - Trapani, Dario
AU - Duso, Bruno Achutti
AU - Curigliano, Giuseppe
N1 - Publisher Copyright:
© 2018 Elsevier B.V.
PY - 2019/1/1
Y1 - 2019/1/1
N2 - 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.
AB - 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.
KW - Driver mutations
KW - Liquid biopsy
KW - Next generation sequencing
KW - Precision medicine
KW - Predictive biomarkers
KW - Tumor heterogeneity
KW - Tumor mutational burden
UR - http://www.scopus.com/inward/record.url?scp=85057602755&partnerID=8YFLogxK
U2 - 10.1016/j.critrevonc.2018.11.008
DO - 10.1016/j.critrevonc.2018.11.008
M3 - Review article
C2 - 30661654
AN - SCOPUS:85057602755
SN - 1040-8428
VL - 133
SP - 171
EP - 182
JO - Critical Reviews in Oncology/Hematology
JF - Critical Reviews in Oncology/Hematology
ER -