The genomic landscape of metastatic breast cancer highlights changes in mutation and signature frequencies.

ABSTRACT: The whole-genome sequencing of prospectively collected tissue biopsies from 442 patients with metastatic breast cancer reveals that, compared to primary breast cancer, tumor mutational burden doubles, the relative contributions of mutational signatures shift and the mutation frequency of six known driver genes increases in metastatic breast cancer. Significant associations with pretreatment are also observed. The contribution of mutational signature 17 is significantly enriched in patients pretreated with fluorouracil, taxanes, platinum and/or eribulin, whereas the de novo mutational signature I identified in this study is significantly associated with pretreatment containing platinum-based chemotherapy. Clinically relevant subgroups of tumors are identified, exhibiting either homologous r

SUBMITTER: Angus L 

PROVIDER: S-EPMC6858873 | biostudies-literature | 2019 Oct

REPOSITORIES: biostudies-literature