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@ARTICLE{Zhang:303115,
author = {G. Zhang and V. Jurinovic and S. Bartels and M. Christgen
and H. Christgen and L. D. Kandt and L. Mishieva and H. Ni
and M. Raap and J. Klein and A.-L. Katzke and W. Hofmann and
D. Steinemann and R. E. Kates and O. Gluz and M. Graeser and
S. Kuemmel and U. Nitz and C. Plass$^*$ and U. Lehmann and
C. Zu Eulenburg and U. Mansmann and C. Gerhauser$^*$ and N.
Harbeck and H. H. Kreipe},
title = {{A} predictive endocrine resistance index accurately
stratifies luminal breast cancer treatment responders and
non-responders.},
journal = {The journal of clinical investigation},
volume = {nn},
issn = {0021-9738},
address = {Ann Arbor, Mich.},
publisher = {ASCJ},
reportid = {DKFZ-2025-01534},
pages = {nn},
year = {2025},
note = {epub},
abstract = {Endocrine therapy (ET) with tamoxifen (TAM) or aromatase
inhibitors (AI) is highly effective against hormone receptor
(HR) positive early breast cancer (BC), but resistance
remains a major challenge. The primary objectives of our
study were to understand the underlying mechanisms of
primary resistance and to identify potential biomarkers.We
selected >800 patients in three sub-cohorts (Discovery,
N=364, matched pairs), Validation 1, N=270, Validation 2, N=
176) of the West German Study Group (WSG) Adjuvant Dynamic
marker-Adjusted Personalized Therapy (ADAPT) trial who
underwent short-term pre-operative TAM or AI treatment.
Treatment response was assessed by immunohistochemical
labeling of proliferating cells with Ki67 before and after
ET. We performed comprehensive molecular profiling,
including targeted next-generation sequencing (NGS) and DNA
methylation analysis using EPIC arrays, on post-treatment
tumor samples.TP53 mutations were strongly associated with
primary resistance to both TAM and AI. In addition, we
identified distinct DNA methylation patterns in resistant
tumors, suggesting alterations in key signaling pathways and
tumor microenvironment composition. Based on these findings
and patient age, we developed the Predictive Endocrine
ResistanCe Index (PERCI). PERCI accurately stratified
responders and non-responders in both treatment groups in
all three sub-cohorts and predicted progression-free
survival in an external validation cohort and in the
combined sub-cohorts.Our results highlight the potential of
PERCI to guide personalized endocrine therapy and improve
patient outcomes.WSG-ADAPT, ClinicalTrials.gov NCT01779206,
Registered 2013-01-25, retrospectively registered.},
keywords = {Bioinformatics (Other) / Breast cancer (Other) / Clinical
Research (Other) / Clinical trials (Other) / Epigenetics
(Other) / Oncology (Other)},
cin = {B370},
ddc = {610},
cid = {I:(DE-He78)B370-20160331},
pnm = {312 - Funktionelle und strukturelle Genomforschung
(POF4-312)},
pid = {G:(DE-HGF)POF4-312},
typ = {PUB:(DE-HGF)16},
pubmed = {pmid:40705465},
doi = {10.1172/JCI177813},
url = {https://inrepo02.dkfz.de/record/303115},
}