The genomic landscape of metastatic breast cancer: Insights from 11,000 tumors.

ABSTRACT: BACKGROUND:Metastatic breast cancer is the leading cause of cancer death in women, but the genomics of metastasis in breast cancer are poorly studied. METHODS:We explored a set of 11,616 breast tumors, including 5,034 metastases, which had undergone targeted sequencing during standard clinical care. RESULTS:Besides the known hotspot mutations in ESR1, we observed a metastatic enrichment of previously unreported, lower-prevalence mutations in the ligand-binding domain, implying that these mutations may also be functional. Furthermore, individual ESR1 hotspots are significantly enriched in specific metastatic tissues and histologies, suggesting functional differences between these mutations. Other alterations enriched across all metastases include loss of function of the CDK4 regulator CDKN1

SUBMITTER: Rinaldi J 

PROVIDER: S-EPMC7202592 | biostudies-literature | 2020

REPOSITORIES: biostudies-literature