Functional analysis of recurrent CDC20 promoter variants in human melanoma.

ABSTRACT: Small nucleotide variants in non-coding regions of the genome can alter transcriptional regulation, leading to changes in gene expression which can activate oncogenic gene regulatory networks. Melanoma is heavily burdened by non-coding variants, representing over 99% of total genetic variation, including the well-characterized TERT promoter mutation. However, the compendium of regulatory non-coding variants is likely still functionally under-characterized. We developed a pipeline to identify hotspots, i.e. recurrently mutated regions, in melanoma containing putatively functional non-coding somatic variants that are located within predicted melanoma-specific regulatory regions. We identified hundreds of statistically significant hotspots, including the hotspot containing the TERT promoter v

SUBMITTER: Godoy PM 

PROVIDER: S-EPMC10686982 | biostudies-literature | 2023 Nov

REPOSITORIES: biostudies-literature