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@ARTICLE{Manoochehri:182334,
author = {M. Manoochehri$^*$ and N. Borhani$^*$ and C. Gerhäuser$^*$
and Y. Assenov$^*$ and M. Schönung$^*$ and T. Hielscher$^*$
and B. C. Christensen and M. K. Lee and H.-J. Gröne and D.
Lipka$^*$ and T. Brüning and H. Brauch$^*$ and Y.-D. Ko and
U. Hamann$^*$},
title = {{DNA} methylation biomarkers for non-invasive detection of
triple negative breast cancer using liquid biopsy.},
journal = {International journal of cancer},
volume = {152},
number = {5},
issn = {0020-7136},
address = {Bognor Regis},
publisher = {Wiley-Liss},
reportid = {DKFZ-2022-02577},
pages = {1025-1035},
year = {2023},
note = {#EA:B070#EA:B072#LA:B070#LA:B072# / 2023 Mar
1;152(5):1025-1035},
abstract = {Non-invasive detection of aberrant DNA methylation could
provide invaluable biomarkers for earlier detection of
triple negative breast cancer (TNBC) which could help
clinicians with easier and more efficient treatment options.
We evaluated genome-wide DNA methylation data derived from
TNBC and normal breast tissues, peripheral blood of TNBC
cases and controls, and reference samples of sorted blood
and mammary cells. Differentially methylated regions (DMRs)
between TNBC and normal breast tissues were stringently
selected, verified, and externally validated. A
machine-learning algorithm was applied to select the top
DMRs, which then were evaluated on plasma-derived
circulating cell-free DNA (cfDNA) samples of TNBC patients
and healthy controls. We identified 23 DMRs accounting for
the methylation profile of blood cells and reference mammary
cells and then selected six top DMRs for cfDNA analysis. We
quantified un-/methylated copies of these DMRs by droplet
digital PCR analysis in a plasma test set from TNBC patients
and healthy controls and confirmed our findings obtained on
tissues. Differential cfDNA methylation was confirmed in an
independent validation set of plasma samples. A methylation
score combining signatures of the top three DMRs overlapping
with the SPAG6, LINC10606, and TBCD/ZNF750 genes had the
best capability to discriminate TNBC patients from controls
(AUC=0.78 in the test set and AUC=0.74 in validation set).
Our findings demonstrate the usefulness of cfDNA-based
methylation signatures as non-invasive liquid biopsy markers
for the diagnosis of TNBC. This article is protected by
copyright. All rights reserved.},
subtyp = {Review Article},
keywords = {Biomarker (Other) / DNA methylation (Other) / Liquid biopsy
(Other) / Non-invasive detection (Other) / Triple Negative
Breast Cancer (Other)},
cin = {B370 / B072 / B340 / C060 / TU01},
ddc = {610},
cid = {I:(DE-He78)B370-20160331 / I:(DE-He78)B072-20160331 /
I:(DE-He78)B340-20160331 / I:(DE-He78)C060-20160331 /
I:(DE-He78)TU01-20160331},
pnm = {312 - Funktionelle und strukturelle Genomforschung
(POF4-312)},
pid = {G:(DE-HGF)POF4-312},
typ = {PUB:(DE-HGF)16},
pubmed = {pmid:36305646},
doi = {10.1002/ijc.34337},
url = {https://inrepo02.dkfz.de/record/182334},
}