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@ARTICLE{Ishaque:141414,
author = {N. Ishaque$^*$ and M. L. Abba and C. Hauser and N. Patil
and N. Paramasivam$^*$ and D. Huebschmann$^*$ and J. H.
Leupold and G. P. Balasubramanian$^*$ and K. Kleinheinz$^*$
and U. Toprak$^*$ and B. Hutter$^*$ and A. Benner$^*$ and A.
Shavinskaya and C. Zhou and Z. Gu$^*$ and J.
Kerssemakers$^*$ and A. Marx and M. Moniuszko and M.
Kozlowski and J. Reszec and J. Niklinski and J. Eils$^*$ and
M. Schlesner$^*$ and R. Eils$^*$ and B. Brors$^*$ and H.
Allgayer},
title = {{W}hole genome sequencing puts forward hypotheses on
metastasis evolution and therapy in colorectal cancer.},
journal = {Nature Communications},
volume = {9},
number = {1},
issn = {2041-1723},
address = {[London]},
publisher = {Nature Publishing Group UK},
reportid = {DKFZ-2018-01920},
pages = {4782},
year = {2018},
abstract = {Incomplete understanding of the metastatic process hinders
personalized therapy. Here we report the most comprehensive
whole-genome study of colorectal metastases vs. matched
primary tumors. $65\%$ of somatic mutations originate from a
common progenitor, with $15\%$ being tumor- and $19\%$
metastasis-specific, implicating a higher mutation rate in
metastases. Tumor- and metastasis-specific mutations harbor
elevated levels of BRCAness. We confirm multistage
progression with new components ARHGEF7/ARHGEF33.
Recurrently mutated non-coding elements include ncRNAs
RP11-594N15.3, AC010091, SNHG14, 3 UTRs of FOXP2, DACH2,
TRPM3, XKR4, ANO5, CBL, CBLB, the latter four potentially
dual protagonists in metastasis and efferocytosis-/PD-L1
mediated immunosuppression. Actionable metastasis-specific
lesions include FAT1, FGF1, BRCA2, KDR, and AKT2-, AKT3-,
and PDGFRA-3 UTRs. Metastasis specific mutations are
enriched in PI3K-Akt signaling, cell adhesion, ECM and
hepatic stellate activation genes, suggesting genetic
programs for site-specific colonization. Our results put
forward hypotheses on tumor and metastasis evolution, and
evidence for metastasis-specific events relevant for
personalized therapy.},
cin = {B330 / B080 / C060 / W610 / L101 / G200},
ddc = {500},
cid = {I:(DE-He78)B330-20160331 / I:(DE-He78)B080-20160331 /
I:(DE-He78)C060-20160331 / I:(DE-He78)W610-20160331 /
I:(DE-He78)L101-20160331 / I:(DE-He78)G200-20160331},
pnm = {312 - Functional and structural genomics (POF3-312)},
pid = {G:(DE-HGF)POF3-312},
typ = {PUB:(DE-HGF)16},
pubmed = {pmid:30429477},
pmc = {pmc:PMC6235880},
doi = {10.1038/s41467-018-07041-z},
url = {https://inrepo02.dkfz.de/record/141414},
}