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@ARTICLE{Kordes:128945,
author = {M. Kordes and M. Röring and C. Heining$^*$ and S. Braun
and B. Hutter$^*$ and D. Richter$^*$ and C. Geörg$^*$ and
C. Scholl$^*$ and S. Gröschel$^*$ and W. Roth$^*$ and A.
Rosenwald and E. Geissinger and C. von Kalle$^*$ and D.
Jäger$^*$ and B. Brors$^*$ and W. Weichert and C. Grüllich
and H. Glimm$^*$ and T. Brummer and S. Fröhling$^*$},
title = {{C}ooperation of {BRAF}({F}595{L}) and mutant {HRAS} in
histiocytic sarcoma provides new insights into oncogenic
{BRAF} signaling.},
journal = {Leukemia},
volume = {30},
number = {4},
issn = {1476-5551},
address = {Basingstoke},
publisher = {Nature Publ. Group},
reportid = {DKFZ-2017-04957},
pages = {937 - 946},
year = {2016},
abstract = {Activating BRAF mutations, in particular V600E/K, drive
many cancers and are considered mutually exclusive with
mutant RAS, whereas inactivating BRAF mutations in the
D(594)F(595)G(596) motif cooperate with RAS via paradoxical
MEK/ERK activation. Due to the increasing use of
comprehensive tumor genomic profiling, many non-V600 BRAF
mutations are being detected whose functional consequences
and therapeutic actionability are often unknown. We
investigated an atypical BRAF mutation, F595L, which was
identified along with mutant HRAS in histiocytic sarcoma and
also occurs in epithelial cancers, melanoma and
neuroblastoma, and determined its interaction with mutant
RAS. Unlike other DFG motif mutants, BRAF(F595L) is a
gain-of-function variant with intermediate activity that
does not act paradoxically, but nevertheless cooperates with
mutant RAS to promote oncogenic signaling, which is
efficiently blocked by pan-RAF and MEK inhibitors. Mutation
data from patients and cell lines show that BRAF(F595L), as
well as other intermediate-activity BRAF mutations,
frequently coincide with mutant RAS in various cancers.
These data define a distinct class of activating BRAF
mutations, extend the spectrum of patients with systemic
histiocytoses and other malignancies who are candidates for
therapeutic blockade of the RAF-MEK-ERK pathway and
underscore the value of comprehensive genomic testing for
uncovering the vulnerabilities of individual tumors.},
keywords = {Biomarkers, Tumor (NLM Chemicals) / BRAF protein, human
(NLM Chemicals) / Proto-Oncogene Proteins B-raf (NLM
Chemicals) / HRAS protein, human (NLM Chemicals) /
Proto-Oncogene Proteins p21(ras) (NLM Chemicals)},
cin = {G100 / G200 / G102 / G010 / G150 / L101 / L601 / D120 /
G240},
ddc = {610},
cid = {I:(DE-He78)G100-20160331 / I:(DE-He78)G200-20160331 /
I:(DE-He78)G102-20160331 / I:(DE-He78)G010-20160331 /
I:(DE-He78)G150-20160331 / I:(DE-He78)L101-20160331 /
I:(DE-He78)L601-20160331 / I:(DE-He78)D120-20160331 /
I:(DE-He78)G240-20160331},
pnm = {317 - Translational cancer research (POF3-317)},
pid = {G:(DE-HGF)POF3-317},
typ = {PUB:(DE-HGF)16},
pubmed = {pmid:26582644},
doi = {10.1038/leu.2015.319},
url = {https://inrepo02.dkfz.de/record/128945},
}