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@ARTICLE{Northcott:120009,
author = {P. A. Northcott$^*$ and C. Lee and T. Zichner and A. M.
Stütz and S. Erkek$^*$ and D. Kawauchi$^*$ and D. J. H.
Shih and V. Hovestadt$^*$ and M. Zapatka$^*$ and D.
Sturm$^*$ and D. Jones$^*$ and M. Kool$^*$ and M. Remke and
F. M. G. Cavalli and S. Zuyderduyn and G. D. Bader and S.
VandenBerg and L. A. Esparza and M. Ryzhova and W. Wang$^*$
and A. Wittmann$^*$ and S. Stark$^*$ and L. Sieber$^*$ and
H. Seker-Cin$^*$ and L. Linke$^*$ and F. Kratochwil$^*$ and
N. Jäger$^*$ and I. Buchhalter$^*$ and C. D. Imbusch$^*$
and G. Zipprich$^*$ and B. Raeder and S. Schmidt$^*$ and N.
Diessl$^*$ and S. Wolf$^*$ and S. Wiemann$^*$ and B.
Brors$^*$ and C. Lawerenz$^*$ and J. Eils$^*$ and H.-J.
Warnatz and T. Risch and M.-L. Yaspo and U. Weber$^*$ and C.
C. Bartholomae$^*$ and C. von Kalle$^*$ and E. Turányi and
P. Hauser and E. Sanden and A. Darabi and P. Siesjö and J.
Sterba and K. Zitterbart and D. Sumerauer and P. van Sluis
and R. Versteeg and R. Volckmann and J. Koster and M. U.
Schuhmann and M. Ebinger and H. L. Grimes and G. W. Robinson
and A. Gajjar and M. Mynarek and K. von Hoff and S.
Rutkowski and T. Pietsch and W. Scheurlen and J. Felsberg
and G. Reifenberger and A. E. Kulozik and A. von
Deimling$^*$ and O. Witt$^*$ and R. Eils$^*$ and R. J.
Gilbertson and A. Korshunov$^*$ and M. D. Taylor and P.
Lichter$^*$ and J. O. Korbel$^*$ and R. J. Wechsler-Reya$^*$
and S. Pfister$^*$},
title = {{E}nhancer hijacking activates {GFI}1 family oncogenes in
medulloblastoma.},
journal = {Nature},
volume = {511},
number = {7510},
issn = {1476-4687},
address = {London [u.a.]},
publisher = {Nature Publ. Group52462},
reportid = {DKFZ-2017-00597},
pages = {428 - 434},
year = {2014},
abstract = {Medulloblastoma is a highly malignant paediatric brain
tumour currently treated with a combination of surgery,
radiation and chemotherapy, posing a considerable burden of
toxicity to the developing child. Genomics has illuminated
the extensive intertumoral heterogeneity of medulloblastoma,
identifying four distinct molecular subgroups. Group 3 and
group 4 subgroup medulloblastomas account for most
paediatric cases; yet, oncogenic drivers for these subtypes
remain largely unidentified. Here we describe a series of
prevalent, highly disparate genomic structural variants,
restricted to groups 3 and 4, resulting in specific and
mutually exclusive activation of the growth factor
independent 1 family proto-oncogenes, GFI1 and GFI1B.
Somatic structural variants juxtapose GFI1 or GFI1B coding
sequences proximal to active enhancer elements, including
super-enhancers, instigating oncogenic activity. Our
results, supported by evidence from mouse models, identify
GFI1 and GFI1B as prominent medulloblastoma oncogenes and
implicate enhancer hijacking as an efficient mechanism
driving oncogene activation in a childhood cancer.},
keywords = {DNA-Binding Proteins (NLM Chemicals) / GFI1 protein, human
(NLM Chemicals) / GFI1B protein, human (NLM Chemicals) /
Proto-Oncogene Proteins (NLM Chemicals) / Repressor Proteins
(NLM Chemicals) / Transcription Factors (NLM Chemicals)},
cin = {B062 / B060 / B080 / W190 / G100 / B050 / G380 / G340 /
G200},
ddc = {070},
cid = {I:(DE-He78)B062-20160331 / I:(DE-He78)B060-20160331 /
I:(DE-He78)B080-20160331 / I:(DE-He78)W190-20160331 /
I:(DE-He78)G100-20160331 / I:(DE-He78)B050-20160331 /
I:(DE-He78)G380-20160331 / I:(DE-He78)G340-20160331 /
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:25043047},
pmc = {pmc:PMC4201514},
doi = {10.1038/nature13379},
url = {https://inrepo02.dkfz.de/record/120009},
}