Normal breast tissues harbour rare populations of aneuploid epithelial cells.

ABSTRACT: Aneuploid epithelial cells are common in breast cancer^1,2; however, their presence in normal breast tissues is not well understood. To address this question, we applied single-cell DNA sequencing to profile copy number alterations in 83,206 epithelial cells from the breast tissues of 49 healthy women, and we applied single-cell DNA and assay for transposase-accessible chromatin sequencing co-assays to the samples of 19 women. Our data show that all women harboured rare aneuploid epithelial cells (median 3.19%) that increased with age. Many aneuploid epithelial cells (median 82.22%) in normal breast tissues underwent clonal expansions and harboured copy number alterations reminiscent of invasive breast cancers (gains of 1q; losses of 10q, 16q and 22q). Co-assay profiling showed t

SUBMITTER: Lin Y 

PROVIDER: S-EPMC12367288 | biostudies-literature | 2024 Dec

REPOSITORIES: biostudies-literature