Systematic investigation of promoter substitutions resulting from somatic intrachromosomal structural alterations in diverse human cancers.

ABSTRACT: One of the ways in which genes can become activated in tumors is by somatic structural genomic rearrangements leading to promoter swapping events, typically in the context of gene fusions that cause a weak promoter to be substituted for a strong promoter. While identifiable by whole genome sequencing, limited availability of this type of data has prohibited comprehensive study of the phenomenon. Here, we leveraged the fact that copy number alterations (CNAs) arise as a result of structural alterations in DNA, and that they may therefore be informative of gene rearrangements, to pinpoint recurrent promoter swapping at a previously intractable scale. CNA data from nearly 9500 human tumors was combined with transcriptomic sequencing data to identify several cases of recurrent activating intra

SUBMITTER: Alaei-Mahabadi B 

PROVIDER: S-EPMC7584658 | biostudies-literature | 2020 Oct

REPOSITORIES: biostudies-literature