title: Focal chromosomal copy number aberrations in cancer-Needles in a genome haystack.
abstract: The extent of focal chromosomal copy number aberrations (CNAs) in cancer has been uncovered through technical innovations, and this discovery has been critical for the identification of new cancer driver genes in genomics projects such as TCGA and ICGC. Unlike constitutive copy number variations (CNVs), focal CNAs are the result of many selection events during the evolution of cancer genomes. Therefore, it is possible that a single gene in a focal CNA gives the tumor a selective growth advantage. This concept has been instrumental in the discovery of new cancer driver genes. However, focal CNAs lack a consensus definition; therefore, we propose one based on pragmatic considerations. We also describe different strategies to identify focal CNAs and procedures to distinguish them from large CNAs and CNVs.
authors.affiliation: Department of Pathology, VU University Medical Center, Amsterdam, The Netherlands. Electronic address: o.krijgsman@vumc.nl.
authors.forename: Oscar
authors.initials: O
authors.lastname: Krijgsman
authors.affiliation: Department of Pathology, VU University Medical Center, Amsterdam, The Netherlands. Electronic address: b.carvalho@vumc.nl.
authors.forename: Beatriz
authors.initials: B
authors.lastname: Carvalho
authors.affiliation: Department of Pathology, VU University Medical Center, Amsterdam, The Netherlands. Electronic address: ga.meijer@vumc.nl.
authors.forename: Gerrit A
authors.initials: GA
authors.lastname: Meijer
authors.affiliation: Department of Pathology, VU University Medical Center, Amsterdam, The Netherlands. Electronic address: r.steenbergen@vumc.nl.
authors.forename: Renske D M
authors.initials: RD
authors.lastname: Steenbergen
authors.affiliation: Department of Pathology, VU University Medical Center, Amsterdam, The Netherlands. Electronic address: b.ylstra@vumc.nl.
authors.forename: Bauke
authors.initials: B
authors.lastname: Ylstra
keywords: Chromosomal aberrations; Driver genes; Focal CNA; Oncogenes; Tumor suppressor genes