TY - CHAP
T1 - Next generation sequencing (NGS)
T2 - A revolutionary technology in pharmacogenomics and personalized medicine in cancer
AU - Morganti, Stefania
AU - Tarantino, Paolo
AU - Ferraro, Emanuela
AU - D’Amico, Paolo
AU - Duso, Bruno Achutti
AU - Curigliano, Giuseppe
N1 - Publisher Copyright:
© Springer Nature Switzerland AG 2019.
PY - 2019/1/1
Y1 - 2019/1/1
N2 - Following the completion of the Human Genome Project in 2003, research in oncology has progressively focused on the sequencing of cancer genomes, with the aim of better understanding the genetic basis of oncogenesis and identifying actionable alterations. The development of next-generation-sequencing (NGS) techniques, commercially available since 2006, allowed for a cost- and time-effective sequencing of tumor DNA, leading to a “genomic era” of cancer research and treatment. NGS provided a significant step forward in Personalized Medicine (PM) by enabling the detection of somatic driver mutations, resistance mechanisms, quantification of mutational burden, germline mutations which settled the foundation of a new approach in cancer care. In this chapter we discuss the history, available techniques and applications of NGS in oncology, with a particular referral to the PM approach and the emerging role of the research field of pharmacogenomics.
AB - Following the completion of the Human Genome Project in 2003, research in oncology has progressively focused on the sequencing of cancer genomes, with the aim of better understanding the genetic basis of oncogenesis and identifying actionable alterations. The development of next-generation-sequencing (NGS) techniques, commercially available since 2006, allowed for a cost- and time-effective sequencing of tumor DNA, leading to a “genomic era” of cancer research and treatment. NGS provided a significant step forward in Personalized Medicine (PM) by enabling the detection of somatic driver mutations, resistance mechanisms, quantification of mutational burden, germline mutations which settled the foundation of a new approach in cancer care. In this chapter we discuss the history, available techniques and applications of NGS in oncology, with a particular referral to the PM approach and the emerging role of the research field of pharmacogenomics.
KW - Genomic era
KW - Homologous recombination
KW - Liquid biopsy
KW - Microsatellite instability
KW - Next-generation-sequencing (NGS)
KW - Oncogenesis
KW - Personalized medicine
KW - Pharmacogenomics
KW - RNA sequencing
KW - Sequencing
KW - Tumor mutational burden
UR - http://www.scopus.com/inward/record.url?scp=85074862792&partnerID=8YFLogxK
U2 - 10.1007/978-3-030-24100-1_2
DO - 10.1007/978-3-030-24100-1_2
M3 - Chapter
C2 - 31713162
AN - SCOPUS:85074862792
T3 - Advances in Experimental Medicine and Biology
SP - 9
EP - 30
BT - Advances in Experimental Medicine and Biology
PB - Springer
ER -