title: Non-invasive detection of genome-wide somatic copy number alterations by liquid biopsies.
abstract: Liquid biopsies, i.e. the analysis of circulating tumor cells (CTCs) or circulating tumor DNA (ctDNA), are evolving into promising clinical tools. Indeed, a plethora of liquid biopsy technologies to deduce non-invasively characteristics of the tumor genome from the peripheral blood have been developed over the last few years. For example, liquid biopsies have been used to assess the tumor burden, to monitor the evolution of tumor genomes, to unravel mechanisms of resistance, to establish the tumor heterogeneity, and for the identification of prognostic and predictive markers. In this review we focus on methods to establish genome-wide profiles of somatic copy number alterations (SCNAs) from plasma DNA and show how they provide novel insights into the biology of cancer and their impact on the management of patients.
authors.affiliation: Medical University of Graz, Institute of Human Genetics, Harrachgasse 21/8, A-8010 Graz, Austria. Electronic address: ellen.heitzer@medunigraz.at.
authors.forename: Ellen
authors.initials: E
authors.lastname: Heitzer
authors.affiliation: Medical University of Graz, Institute of Human Genetics, Harrachgasse 21/8, A-8010 Graz, Austria. Electronic address: peter.ulz@medunigraz.at.
authors.forename: Peter
authors.initials: P
authors.lastname: Ulz
authors.affiliation: Medical University of Graz, Institute of Human Genetics, Harrachgasse 21/8, A-8010 Graz, Austria. Electronic address: jochen.geigl@medunigraz.at.
authors.forename: Jochen B
authors.initials: JB
authors.lastname: Geigl
authors.affiliation: Medical University of Graz, Institute of Human Genetics, Harrachgasse 21/8, A-8010 Graz, Austria. Electronic address: michael.speicher@medunigraz.at.
authors.forename: Michael R
authors.initials: MR
authors.lastname: Speicher
mesh_terms: D000818:Animals; D001706:Biopsy; D004273:DNA, Neoplasm / Q000097:blood / Q000235:genetics*; D018628:Gene Dosage; D015972:Gene Expression Regulation, Neoplastic; D016678:Genome; D006801:Humans; D009369:Neoplasms / Q000097:blood / Q000235:genetics* / Q000473:pathology*; D009360:Neoplastic Cells, Circulating / Q000473:pathology*; D017422:Sequence Analysis, DNA
chemical_list: D004273:DNA, Neoplasm
keywords: Circulating tumor DNA (ctDNA); Circulating tumor cells (CTCs); Plasma DNA; Somatic copy number alterations; Whole-genome sequencing