Signatures of copy number alterations in human cancer

Steele, Christopher D.; Abbasi, Ammal; Islam, S. M. Ashiqul; Bowes, Amy L.; Khandekar, Azhar; Haase, Kerstin; Hames-Fathi, Shadi; Ajayi, Dolapo; Verfaillie, Annelien; Dhami, Pawan; McLatchie, Alex P.; Lechner, Matt; Light, Nicholas; Shlien, Adam; Malkin, David; Feber, Andrew; Proszek, Paula; Lesluyes, Tom; Mertens, Fredrik; Flanagan, Adrienne M.; Tarabichi, Maxime; Loo, Peter Van; Alexandrov, Ludmil B.; Pillay, Nischalan

doi:10.1038/s41586-022-04738-6

articleNatureJun 15, 2022HYBRID OA

Signatures of copy number alterations in human cancer

CDChristopher D. Steele AAAmmal Abbasi SMS. M. Ashiqul Islam ALAmy L. Bowes AKAzhar Khandekar

University College London · University of California San Diego · +15 more institutions

PubMed

Indexed incrossrefpubmed

Abstract

Abstract Gains and losses of DNA are prevalent in cancer and emerge as a consequence of inter-related processes of replication stress, mitotic errors, spindle multipolarity and breakage–fusion–bridge cycles, among others, which may lead to chromosomal instability and aneuploidy 1,2 . These copy number alterations contribute to cancer initiation, progression and therapeutic resistance 3–5 . Here we present a conceptual framework to examine the patterns of copy number alterations in human cancer that is widely applicable to diverse data types, including whole-genome sequencing, whole-exome sequencing, reduced representation bisulfite sequencing, single-cell DNA sequencing and SNP6 microarray data. Deploying this…

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Topics & keywords

Topics

Keywords

Chromothripsis
Biology
Copy-number variation
Copy number analysis
Genetics
Cancer
Computational biology
Genome instability

UN Sustainable Development Goals

Good health and well-being

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