Cancer BiologybioRxiv
Aneuploidy and deregulated DNA damage response define haploinsufficiency in breast tissues of BRCA2 mutation carriers
M. Karaayvaz, R. E. Silberman, A. Langenbucher…·L. W. Ellisen
The paper identifies sub-chromosomal copy number variations and DNA damage in BRCA2 mutation carriers' breast tissues, indicating haploinsufficiency and early carcinogenic changes.
DOI 10.1126/sciadv.aay2611