Sequence dependencies and mutation rates of localized mutational processes in cancer.

ABSTRACT:

Background

Cancer mutations accumulate through replication errors and DNA damage coupled with incomplete repair. Individual mutational processes often show nucleotide sequence and functional region preferences. As a result, some sequence contexts mutate at much higher rates than others, with additional variation found between functional regions. Mutational hotspots, with recurrent mutations across cancer samples, represent genomic positions with elevated mutation rates, often caused by highly localized mutational processes.

Methods

We count the 11-mer genomic sequences across the genome, and using the PCAWG set of 2583 pan-cancer whole genomes, we associate 11-mers with mutational signatures, hotspots of single nucleotide variants, and specific genomic regions. We evaluate t

SUBMITTER: Poulsgaard GA 

PROVIDER: S-EPMC10436389 | biostudies-literature | 2023 Aug

REPOSITORIES: biostudies-literature