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@ARTICLE{Klett:137604,
author = {H. Klett$^*$ and Y. Balavarca$^*$ and R. Toth$^*$ and B.
Gigic$^*$ and N. Habermann$^*$ and D. Scherer$^*$ and P.
Schrotz-King$^*$ and A. Ulrich and P. Schirmacher and E.
Herpel and H. Brenner$^*$ and C. M. Ulrich and K. B. Michels
and H. Busch and M. Boerries$^*$},
title = {{R}obust prediction of gene regulation in colorectal cancer
tissues from {DNA} methylation profiles.},
journal = {Epigenetics},
volume = {13},
number = {4},
issn = {1559-2308},
address = {Austin, Tex.},
publisher = {Landes Bioscience},
reportid = {DKFZ-2018-01484},
pages = {386 - 397},
year = {2018},
abstract = {DNA methylation is recognized as one of several epigenetic
regulators of gene expression and as potential driver of
carcinogenesis through gene-silencing of tumor suppressors
and activation of oncogenes. However, abnormal methylation,
even of promoter regions, does not necessarily alter gene
expression levels, especially if the gene is already
silenced, leaving the exact mechanisms of methylation
unanswered. Using a large cohort of matching DNA methylation
and gene expression samples of colorectal cancer (CRC; n =
77) and normal adjacent mucosa tissues (n = 108), we
investigated the regulatory role of methylation on gene
expression. We show that on a subset of genes enriched in
common cancer pathways, methylation is significantly
associated with gene regulation through gene-specific
mechanisms. We built two classification models to infer gene
regulation in CRC from methylation differences of tumor and
normal tissues, taking into account both gene-silencing and
gene-activation effects through hyper- and hypo-methylation
of CpGs. The classification models result in high prediction
performances in both training and independent CRC testing
cohorts (0.92<AUC<0.97) as well as in individual patient
data (average AUC = 0.82), suggesting a robust interplay
between methylation and gene regulation. Validation analysis
in other cancerous tissues resulted in lower prediction
performances (0.69<AUC<0.90); however, it identified genes
that share robust dependencies across cancerous tissues. In
conclusion, we present a robust classification approach that
predicts the gene-specific regulation through DNA
methylation in CRC tissues with possible transition to
different cancer entities. Furthermore, we present HMGA1 as
consistently associated with methylation across cancers,
suggesting a potential candidate for DNA methylation
targeting cancer therapy.},
cin = {L601 / G110 / C070 / L101},
ddc = {610},
cid = {I:(DE-He78)L601-20160331 / I:(DE-He78)G110-20160331 /
I:(DE-He78)C070-20160331 / I:(DE-He78)L101-20160331},
pnm = {313 - Cancer risk factors and prevention (POF3-313)},
pid = {G:(DE-HGF)POF3-313},
typ = {PUB:(DE-HGF)16},
pubmed = {pmid:29697014},
pmc = {pmc:PMC6140810},
doi = {10.1080/15592294.2018.1460034},
url = {https://inrepo02.dkfz.de/record/137604},
}