The repertoire of mutational signatures in human cancer.

ABSTRACT: Somatic mutations in cancer genomes are caused by multiple mutational processes, each of which generates a characteristic mutational signature¹. Here, as part of the Pan-Cancer Analysis of Whole Genomes (PCAWG) Consortium² of the International Cancer Genome Consortium (ICGC) and The Cancer Genome Atlas (TCGA), we characterized mutational signatures using 84,729,690 somatic mutations from 4,645 whole-genome and 19,184 exome sequences that encompass most types of cancer. We identified 49 single-base-substitution, 11 doublet-base-substitution, 4 clustered-base-substitution and 17 small insertion-and-deletion signatures. The substantial size of our dataset, compared with previous analyses^3-15, enabled the discovery of new signatures, the separation of overlappi

SUBMITTER: Alexandrov LB 

PROVIDER: S-EPMC7054213 | biostudies-literature | 2020 Feb

REPOSITORIES: biostudies-literature