Landscape of somatic mutations in 560 breast cancer whole-genome sequences.

ABSTRACT: We analysed whole-genome sequences of 560 breast cancers to advance understanding of the driver mutations conferring clonal advantage and the mutational processes generating somatic mutations. We found that 93 protein-coding cancer genes carried probable driver mutations. Some non-coding regions exhibited high mutation frequencies, but most have distinctive structural features probably causing elevated mutation rates and do not contain driver mutations. Mutational signature analysis was extended to genome rearrangements and revealed twelve base substitution and six rearrangement signatures. Three rearrangement signatures, characterized by tandem duplications or deletions, appear associated with defective homologous-recombination-based DNA repair: one with deficient BRCA1 function, another

SUBMITTER: Nik-Zainal S 

PROVIDER: S-EPMC4910866 | biostudies-literature | 2016 Jun

REPOSITORIES: biostudies-literature