Normal breast tissues harbour rare populations of aneuploid epithelial cells

Yiyun Lin, Junke Wang, Kaile Wang, Shanshan Bai, Aatish Thennavan, Runmin Wei, Yun Yan, Jianzhuo Li, Heba Elgamal, Emi Sei, Anna Casasent, Mitchell Rao, Chenling Tang, Asha S. Multani, Jin Ma, Jessica Montalvan, Chandandeep Nagi, Sebastian Winocour, Bora Lim, Alastair Thompson and Nicholas Navin ()
Additional contact information
Yiyun Lin: University of Texas MD Anderson Cancer Center
Junke Wang: University of Texas MD Anderson Cancer Center
Kaile Wang: University of Texas MD Anderson Cancer Center
Shanshan Bai: University of Texas MD Anderson Cancer Center
Aatish Thennavan: University of Texas MD Anderson Cancer Center
Runmin Wei: University of Texas MD Anderson Cancer Center
Yun Yan: University of Texas MD Anderson Cancer Center
Jianzhuo Li: University of Texas MD Anderson Cancer Center
Heba Elgamal: University of Texas MD Anderson Cancer Center
Emi Sei: University of Texas MD Anderson Cancer Center
Anna Casasent: University of Texas MD Anderson Cancer Center
Mitchell Rao: University of Texas MD Anderson Cancer Center
Chenling Tang: University of Texas MD Anderson Cancer Center
Asha S. Multani: University of Texas MD Anderson Cancer Center
Jin Ma: University of Texas MD Anderson Cancer Center
Jessica Montalvan: Baylor College of Medicine
Chandandeep Nagi: Baylor College of Medicine
Sebastian Winocour: Baylor College of Medicine
Bora Lim: University of Texas MD Anderson Cancer Center
Alastair Thompson: Baylor College of Medicine
Nicholas Navin: University of Texas MD Anderson Cancer Center

Nature, 2024, vol. 636, issue 8043, 663-670

Abstract: Abstract Aneuploid epithelial cells are common in breast cancer1,2; 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 that the aneuploid cells were mainly associated with the two luminal epithelial lineages, and spatial mapping showed that they localized in ductal and lobular structures with normal histopathology. Collectively, these data show that even healthy women have clonal expansions of rare aneuploid epithelial cells in their breast tissues.

Date: 2024
References: Add references at CitEc
Citations:

Downloads: (external link)
https://www.nature.com/articles/s41586-024-08129-x Abstract (text/html)
Access to the full text of the articles in this series is restricted.

Related works:
This item may be available elsewhere in EconPapers: Search for items with the same title.

Export reference: BibTeX RIS (EndNote, ProCite, RefMan) HTML/Text

Persistent link: https://EconPapers.repec.org/RePEc:nat:nature:v:636:y:2024:i:8043:d:10.1038_s41586-024-08129-x

Ordering information: This journal article can be ordered from
https://www.nature.com/

DOI: 10.1038/s41586-024-08129-x

Access Statistics for this article

Nature is currently edited by Magdalena Skipper

More articles in Nature from Nature
Bibliographic data for series maintained by Sonal Shukla () and Springer Nature Abstracting and Indexing ().