Tissue-Specific Prevalence and Clonal Architecture of <i>BRCA1/2</i> LOH-Inducing Chromosomal Aneuploidy
carriers, chr17q and chr13q deletions appear as localized subclonal events within small clades against a largely diploid background. In established malignancies, these same deletions are found within dominant clonal lineages accompanied by widespread genomic instability-consistent with clonal sweeps originating from early deletion events. These findings suggest that breast and ovarian cellular environments confer a selective advantage for chr17q and chr13q deletions, providing a mechanism that may contribute to the tissue-specific cancer risk observed in gBRCA1/2 carriers.
Authors
- Kuan‐lin Huang (ORCID: https://orcid.org/0000-0002-5537-5817)
- Tomi Jun (ORCID: https://orcid.org/0000-0002-2120-1704)
- Saumya D. Sisoudiya (ORCID: https://orcid.org/0000-0001-7276-8084)
- Xinfeng Wang (ORCID: https://orcid.org/0000-0002-5656-1750)
- J Contreras
- Mahad Bihie
- Yves Greatti
- Smruthy Sivakumar
Institutions
- Johns Hopkins University (US)
- Center for Genomic Science (IT)
- Foundation Medicine (United States)
- University of Colorado Anschutz Medical Campus (US)
- McMaster University (CA)
Publication Details
- Journal
- bioRxiv (Cold Spring Harbor Laboratory)
- Published
- 2026-04-21
- DOI
- https://doi.org/10.64898/2026.04.17.718766
- Primary Topic
- BRCA gene mutations in cancer
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- Common Fund