Article
Luminal breast epithelial cells of BRCA1 or BRCA2 mutation carriers and noncarriers harbor common breast cancer copy number alterations.
Nature genetics - 1 Dec 2024
Williams Marc J, Oliphant Michael U J, Au Vinci, Liu Cathy, Baril Caroline, O'Flanagan Ciara, Lai Daniel, Beatty Sean, Van Vliet Michael, Yiu Jacky Ch, O'Connor Lauren, Goh Walter L, Pollaci Alicia, Weiner Adam C, Grewal Diljot, McPherson Andrew, Norton Klarisa, Moore McKenna, Prabhakar Vikas, Agarwal Shailesh, Garber Judy E, Dillon Deborah A, Shah Sohrab P, Brugge Joan S, Aparicio Samuel
Abstract excerpt
The prevalence and nature of somatic copy number alterations (CNAs) in breast epithelium and their role in tumor initiation and evolution remain poorly understood. Using single-cell DNA sequencing (49,238 cells) of epithelium from BRCA1 and BRCA2 carriers or wild-type individuals, we identified recurrent CNAs (for example, 1q-gain and 7q, 10q, 16q and 22q-loss) that are present in a rare population of cells...
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