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• W3028113548 abstract "Abstract Mutations do not accumulate uniformly across the genome. Human germline and tumor mutation density correlate poorly, and each is associated with different genomic features. Here, we use non-human great ape (NHGA) germlines to determine human germline- and tumor-specific deviations from an ancestral-like great ape genome-wide mutational landscape. Strikingly, we find that the distribution of mutation densities in tumors presents a stronger correlation with NHGA than with human germlines. This effect is driven by human-specific differences in the distribution of mutations at non-CpG sites. We propose that ancestral human demographic events, together with the human-specific mutation slowdown, disrupted the human genome-wide distribution of mutation densities. Tumors partially recover this distribution by accumulating preneoplastic-like somatic mutations. Our results highlight the potential utility of using NHGA population data, rather than human controls, to establish the expected mutational background of healthy somatic cells." @default.
• W3028113548 created "2020-05-29" @default.
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• W3028113548 date "2020-05-19" @default.
• W3028113548 modified "2023-10-18" @default.
• W3028113548 title "Extreme differences between human germline and tumor mutation densities are driven by ancestral human-specific deviations" @default.
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• W3028113548 doi "https://doi.org/10.1038/s41467-020-16296-4" @default.
• W3028113548 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/7237693" @default.
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• W3028113548 hasPublicationYear "2020" @default.
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