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@ARTICLE{Lomakin:182724,
author = {A. Lomakin$^*$ and J. Svedlund and C. Strell and M. Gataric
and A. Shmatko$^*$ and G. Rukhovich$^*$ and J. S. Park$^*$
and Y. S. Ju and S. Dentro$^*$ and V. Kleshchevnikov and V.
Vaskivskyi and T. Li and O. A. Bayraktar and S. Pinder and
A. L. Richardson and S. Santagata and P. J. Campbell and H.
Russnes and M. Gerstung$^*$ and M. Nilsson and L. R. Yates},
title = {{S}patial genomics maps the structure, nature and evolution
of cancer clones.},
journal = {Nature},
volume = {611},
number = {7936},
issn = {0028-0836},
address = {London [u.a.]},
publisher = {Nature Publ. Group},
reportid = {DKFZ-2022-02877},
pages = {594 - 602},
year = {2022},
note = {#EA:B450#},
abstract = {Genome sequencing of cancers often reveals mosaics of
different subclones present in the same tumour1-3. Although
these are believed to arise according to the principles of
somatic evolution, the exact spatial growth patterns and
underlying mechanisms remain elusive4,5. Here, to address
this need, we developed a workflow that generates detailed
quantitative maps of genetic subclone composition across
whole-tumour sections. These provide the basis for studying
clonal growth patterns, and the histological
characteristics, microanatomy and microenvironmental
composition of each clone. The approach rests on
whole-genome sequencing, followed by highly multiplexed
base-specific in situ sequencing, single-cell resolved
transcriptomics and dedicated algorithms to link these
layers. Applying the base-specific in situ sequencing
workflow to eight tissue sections from two multifocal
primary breast cancers revealed intricate subclonal growth
patterns that were validated by microdissection. In a case
of ductal carcinoma in situ, polyclonal neoplastic
expansions occurred at the macroscopic scale but segregated
within microanatomical structures. Across the stages of
ductal carcinoma in situ, invasive cancer and lymph node
metastasis, subclone territories are shown to exhibit
distinct transcriptional and histological features and
cellular microenvironments. These results provide examples
of the benefits afforded by spatial genomics for deciphering
the mechanisms underlying cancer evolution and
microenvironmental ecology.},
keywords = {Humans / Female / Carcinoma, Intraductal, Noninfiltrating /
Mutation / Genomics / Clonal Evolution: genetics / Clone
Cells / Breast Neoplasms: genetics / Tumor Microenvironment:
genetics},
cin = {B450},
ddc = {500},
cid = {I:(DE-He78)B450-20160331},
pnm = {312 - Funktionelle und strukturelle Genomforschung
(POF4-312)},
pid = {G:(DE-HGF)POF4-312},
typ = {PUB:(DE-HGF)16},
pubmed = {pmid:36352222},
pmc = {pmc:PMC9668746},
doi = {10.1038/s41586-022-05425-2},
url = {https://inrepo02.dkfz.de/record/182724},
}