Case report: 16-yr life history and genomic evolution of an ER⁺ HER2^- breast cancer.

ABSTRACT: Metastatic breast cancer is one of the leading causes of cancer-related death in women. Limited studies have been done on the genomic evolution between primary and metastatic breast cancer. We reconstructed the genomic evolution through the 16-yr history of an ER⁺ HER2^- breast cancer patient to investigate molecular mechanisms of disease relapse and treatment resistance after long-term exposure to hormonal therapy. Genomic and transcriptome profiling was performed on primary breast tumor (2002), initial recurrence (2012), and liver metastasis (2015) samples. Cell-free DNA analysis was performed at 11 time points (2015-2017). Mutational analysis revealed a low mutational burden in the primary tumor that doubled at the time of progression, with driver mutations in PI3K-

SUBMITTER: Xu B 

PROVIDER: S-EPMC7784492 | biostudies-literature | 2020 Dec

REPOSITORIES: biostudies-literature