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.

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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

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article

Tissue-Specific Prevalence and Clonal Architecture of BRCA1/2 LOH-Inducing Chromosomal Aneuploidy

Kuan‐lin Huang, Tomi Jun, Saumya D. Sisoudiya, Xinfeng Wang et al.
bioRxiv (Cold Spring Harbor Laboratory)
BRCA gene mutations in cancer
article

Tissue-Specific Prevalence and Clonal Architecture of BRCA1/2 LOH-Inducing Chromosomal Aneuploidy

Kuan‐lin Huang, Tomi Jun, Saumya D. Sisoudiya, Xinfeng Wang, J Contreras, Mahad Bihie, Yves Greatti, Smruthy Sivakumar
article en

Abstract

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.

bioRxiv (Cold Spring Harbor Laboratory)
Johns Hopkins University (US), Center for Genomic Science (IT), Foundation Medicine (United States), University of Colorado Anschutz Medical Campus (US), McMaster University (CA)
Common Fund
Good health and well-being
Openalex Percentile: Top 16%
BRCA gene mutations in cancer
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