An online resource for studying the relationship between mutational signatures and topographical characteristics across human cancer.
By Dr. Sanchari Sinha Dutta, Ph.D.Aug 28 2023Reviewed by Lily Ramsey, LLM A study published in the Cell Reports Journal provides an online resource for studying the relationship between mutational signatures and topographical characteristics across human cancer.
The rate varies across some cancer genomes due to differential DNA repair. Moreover, chromatin features of cells undergoing neoplastic transformation can affect somatic mutations' mutation rate and distribution. The COSMIC signatures database included 78 single-base substitution, 11 doublet-base substitution, and 18 insertion or deletion mutational signatures.
In POLE-proficient samples, an enrichment of 28 single-base substitution was observed in early-replicating regions. The mutations lacked depletion in nucleosomes and CTCF binding sites. Specifically, topographical features of single-base substitutions were analyzed after separating them into non-clustered mutations, diffuse hypermutation of substitutions , and longer clusters of strand-coordinated substitutions .
In contrast to kataegis events which were highly enriched in early-replicating regions, non-clustered and omikli events showed more enrichment in late-replicating regions.
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