Signatures of copy number alterations in human cancer.

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 framework to 9,873 cancers representing 33 human cancer types from The

SUBMITTER: Steele CD 

PROVIDER: S-EPMC9242861 | biostudies-literature | 2022 Jun

REPOSITORIES: biostudies-literature