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@ARTICLE{Starostecka:299473,
author = {M. Starostecka and H. Jeong and P. Hasenfeld and E.
Benito-Garagorri and T. Christiansen$^*$ and C. Stober
Brasseur and M. Gomes Queiroz and M. Garcia Montero and M.
Jechlinger and J. Korbel$^*$},
title = {{S}tructural variant and nucleosome occupancy dynamics
postchemotherapy in a {HER}2+ breast cancer organoid model.},
journal = {Proceedings of the National Academy of Sciences of the
United States of America},
volume = {122},
number = {9},
issn = {0027-8424},
address = {Washington, DC},
publisher = {National Acad. of Sciences},
reportid = {DKFZ-2025-00433},
pages = {e2415475122},
year = {2025},
note = {#LA:B480#},
abstract = {The most common chemotherapeutics induce DNA damage to
eradicate cancer cells, yet defective DNA repair can
propagate mutations, instigating therapy resistance and
secondary malignancies. Structural variants (SVs), arising
from copy-number-imbalanced and -balanced DNA
rearrangements, are a major driver of tumor evolution, yet
understudied posttherapy. Here, we adapted single-cell
template-strand sequencing (Strand-seq) to a HER2+ breast
cancer model to investigate the formation of
doxorubicin-induced de novo SVs. We coupled this approach
with nucleosome occupancy (NO) measurements obtained from
the same single cell to enable simultaneous SV detection and
cell-type classification. Using organoids from
TetO-CMYC/TetO-Neu/MMTV-rtTA mice modeling HER2+ breast
cancer, we generated 459 Strand-seq libraries spanning
various tumorigenesis stages, identifying a 7.4-fold
increase in large chromosomal alterations post-doxorubicin.
Complex DNA rearrangements, deletions, and duplications were
prevalent across basal, luminal progenitor (LP), and mature
luminal (ML) cells, indicating uniform susceptibility of
these cell types to SV formation. Doxorubicin further
elevated sister chromatid exchanges (SCEs), indicative of
genomic stress persisting posttreatment. Altered nucleosome
occupancy levels on distinct cancer-related genes further
underscore the broad genomic impact of doxorubicin. The
organoid-based system for single-cell multiomics established
in this study paves the way for unraveling the most
important therapy-associated SV mutational signatures,
enabling systematic studies of the effect of therapy on
cancer evolution.},
keywords = {Nucleosomes: metabolism / Organoids: metabolism /
Organoids: drug effects / Female / Breast Neoplasms: drug
therapy / Breast Neoplasms: genetics / Breast Neoplasms:
metabolism / Breast Neoplasms: pathology / Mice / Humans /
Doxorubicin: pharmacology / Animals / Receptor, ErbB-2:
metabolism / Receptor, ErbB-2: genetics / Single-Cell
Analysis: methods / breast cancer (Other) / organoids
(Other) / single-cell multi-omics (Other) / structural
variation (Other) / Nucleosomes (NLM Chemicals) /
Doxorubicin (NLM Chemicals) / Receptor, ErbB-2 (NLM
Chemicals) / ERBB2 protein, human (NLM Chemicals)},
cin = {B480},
ddc = {500},
cid = {I:(DE-He78)B480-20160331},
pnm = {312 - Funktionelle und strukturelle Genomforschung
(POF4-312)},
pid = {G:(DE-HGF)POF4-312},
typ = {PUB:(DE-HGF)16},
pubmed = {pmid:39993200},
doi = {10.1073/pnas.2415475122},
url = {https://inrepo02.dkfz.de/record/299473},
}