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Signatures of accelerated somatic evolution in gene promoters in multiple cancer types.


ABSTRACT: Cancer-associated somatic mutations outside protein-coding regions remain largely unexplored. Analyses of the TERT locus have indicated that non-coding regulatory mutations can be more frequent than previously suspected and play important roles in oncogenesis. Using a computational method called SASE-hunter, developed here, we identified a novel signature of accelerated somatic evolution (SASE) marked by a significant excess of somatic mutations localized in a genomic locus, and prioritized those loci that carried the signature in multiple cancer patients. Interestingly, even when an affected locus carried the signature in multiple individuals, the mutations contributing to SASE themselves were rarely recurrent at the base-pair resolution. In a pan-cancer analysis of 906 samples from 12 tu

SUBMITTER: Smith KS 

PROVIDER: S-EPMC4477653 | biostudies-literature | 2015 Jun

REPOSITORIES: biostudies-literature

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