Frequent ESR1 and CDK Pathway Copy-Number Alterations in Metastatic Breast Cancer.

ABSTRACT: DNA sequencing has identified a limited number of driver mutations in metastatic breast cancer beyond single base-pair mutations in the estrogen receptor (ESR1). However, our previous studies and others have observed that structural variants, such as ESR1 fusions, may also play a role. Therefore, we expanded upon these observations by performing a comprehensive and highly sensitive characterization of copy-number (CN) alterations in a large clinical cohort of metastatic specimens. NanoString DNA hybridization was utilized to measure CN gains, amplifications, and deletions of 67 genes in 108 breast cancer metastases, and in 26 cases, the patient-matched primary tumor. For ESR1, a copyshift algorithm was applied to identify CN imbalances at exon-specific resolution and queried large d

SUBMITTER: Basudan A 

PROVIDER: S-EPMC6359977 | biostudies-literature | 2019 Feb

REPOSITORIES: biostudies-literature