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dc.contributor.authorPolak, Pazen_US
dc.contributor.authorLawrence, Michael S.en_US
dc.contributor.authorHaugen, Ericen_US
dc.contributor.authorStoletzki, Ninaen_US
dc.contributor.authorStojanov, Petaren_US
dc.contributor.authorThurman, Robert Een_US
dc.contributor.authorGarraway, Levi A.en_US
dc.contributor.authorMirkin, Sergeien_US
dc.contributor.authorGetz, Gaden_US
dc.contributor.authorStamatoyannopoulos, John A.en_US
dc.contributor.authorSunyaev, Shamil R.en_US
dc.date.accessioned2014-08-13T14:00:07Z
dc.date.issued2014en_US
dc.identifier.citationPolak, P., M. S. Lawrence, E. Haugen, N. Stoletzki, P. Stojanov, R. E. Thurman, L. A. Garraway, et al. 2014. “Reduced local mutation density in regulatory DNA of cancer genomes is linked to DNA repair.” Nature biotechnology 32 (1): 71-75. doi:10.1038/nbt.2778. http://dx.doi.org/10.1038/nbt.2778.en
dc.identifier.issn1087-0156en
dc.identifier.urihttp://nrs.harvard.edu/urn-3:HUL.InstRepos:12717567
dc.description.abstractCarcinogenesis and neoplastic progression are mediated by the accumulation of somatic mutations. Here we report that the local density of somatic mutations in cancer genomes is highly reduced specifically in accessible regulatory DNA defined by DNase I hypersensitive sites. This reduction is independent of any known factors influencing somatic mutation density and is observed in diverse cancer types, suggesting a general mechanism. By analyzing individual cancer genomes1, we show that the reduced local mutation density within regulatory DNA is linked to intact global genome repair machinery, with nearly complete abrogation of the hypomutation phenomenon in individual cancers that possess mutations in multiple nucleotide excision repair components. Together, our results connect chromatin structure, gene regulation and cancer-associated somatic mutation.en
dc.language.isoen_USen
dc.relation.isversionofdoi:10.1038/nbt.2778en
dc.relation.hasversionhttp://www.ncbi.nlm.nih.gov/pmc/articles/PMC4116484/pdf/en
dash.licenseLAAen_US
dc.titleReduced local mutation density in regulatory DNA of cancer genomes is linked to DNA repairen
dc.typeJournal Articleen_US
dc.description.versionVersion of Recorden
dc.relation.journalNature biotechnologyen
dash.depositing.authorGarraway, Levi A.en_US
dc.date.available2014-08-13T14:00:07Z
dc.identifier.doi10.1038/nbt.2778*
dash.authorsorderedfalse
dash.contributor.affiliatedGarraway, Levi
dash.contributor.affiliatedSunyaev, Shamil


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