Acquired mutations and transcriptional remodeling in long-term estrogen-deprived locoregional breast cancer recurrences.

ABSTRACT:

Background

Endocrine therapy resistance is a hallmark of advanced estrogen receptor (ER)-positive breast cancer. In this study, we aimed to determine acquired genomic changes in endocrine-resistant disease.

Methods

We performed DNA/RNA hybrid-capture sequencing on 12 locoregional recurrences after long-term estrogen deprivation and identified acquired genomic changes versus each tumor's matched primary.

Results

Despite being up to 7 years removed from the primary lesion, most recurrences harbored similar intrinsic transcriptional and copy number profiles. Only two genes, AKAP9 and KMT2C, were found to have single nucleotide variant (SNV) enrichments in more than one recurrence. Enriched mutations in single cases included SNVs within transcriptional regulators such as

SUBMITTER: Priedigkeit N 

PROVIDER: S-EPMC7788918 | biostudies-literature | 2021 Jan

REPOSITORIES: biostudies-literature