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New somatic BRAF splicing mutation in Langerhans cell histiocytosis

Overview of attention for article published in Molecular Cancer, July 2017
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  • Above-average Attention Score compared to outputs of the same age and source (54th percentile)

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Title
New somatic BRAF splicing mutation in Langerhans cell histiocytosis
Published in
Molecular Cancer, July 2017
DOI 10.1186/s12943-017-0690-z
Pubmed ID
Authors

Sébastien Héritier, Zofia Hélias-Rodzewicz, Rikhia Chakraborty, Amel G. Sengal, Christine Bellanné-Chantelot, Caroline Thomas, Anne Moreau, Sylvie Fraitag, Carl E. Allen, Jean Donadieu, Jean-François Emile

Abstract

Langerhans cell histiocytosis (LCH) is an inflammatory myeloid neoplasia with constitutive activation of the MAPKinase RAS-RAF-MEK-ERK cell signaling pathway. We analyzed 9 LCH cases without BRAF (V600) and MAP2K1 mutations by whole exome sequencing. We identified a new somatic BRAF splicing mutation in 2 cases. Both cases were childhood single system (SS) LCH cases, with self-healing outcome of the bone lesions. This mutant consisted in a 9 base pair duplication (c.1511_1517 + 2 duplication), encoding for a predicted mutant protein with insertion of 3 amino acids (p.Arg506_Lys507insLeuLeuArg) in the N-terminal lobe of the kinase domain of BRAF. Transient expression of the c.1511_1517 + 2dup BRAF mutant in HEK293 cells enhanced MAPKinase pathway activation, and was not inhibited by vemurafenib but was inhibited by PLX8394, a second-generation BRAF inhibitor able to inhibit signaling of BRAF monomers and dimers. Future LCH molecular screening panel should include this new mutation to better define its prevalence in LCH and its restriction to autoregressive bone SS LCH.

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Mendeley readers

Mendeley readers

The data shown below were compiled from readership statistics for 39 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Unknown 39 100%

Demographic breakdown

Readers by professional status Count As %
Other 6 15%
Student > Ph. D. Student 5 13%
Researcher 5 13%
Student > Doctoral Student 3 8%
Student > Bachelor 3 8%
Other 4 10%
Unknown 13 33%
Readers by discipline Count As %
Medicine and Dentistry 12 31%
Biochemistry, Genetics and Molecular Biology 5 13%
Agricultural and Biological Sciences 2 5%
Chemistry 2 5%
Immunology and Microbiology 1 3%
Other 1 3%
Unknown 16 41%
Attention Score in Context

Attention Score in Context

This research output has an Altmetric Attention Score of 1. This is our high-level measure of the quality and quantity of online attention that it has received. This Attention Score, as well as the ranking and number of research outputs shown below, was calculated when the research output was last mentioned on 21 July 2017.
All research outputs
#15,467,628
of 22,985,065 outputs
Outputs from Molecular Cancer
#1,051
of 1,731 outputs
Outputs of similar age
#197,375
of 313,520 outputs
Outputs of similar age from Molecular Cancer
#16
of 37 outputs
Altmetric has tracked 22,985,065 research outputs across all sources so far. This one is in the 22nd percentile – i.e., 22% of other outputs scored the same or lower than it.
So far Altmetric has tracked 1,731 research outputs from this source. They typically receive a little more attention than average, with a mean Attention Score of 5.7. This one is in the 30th percentile – i.e., 30% of its peers scored the same or lower than it.
Older research outputs will score higher simply because they've had more time to accumulate mentions. To account for age we can compare this Altmetric Attention Score to the 313,520 tracked outputs that were published within six weeks on either side of this one in any source. This one is in the 28th percentile – i.e., 28% of its contemporaries scored the same or lower than it.
We're also able to compare this research output to 37 others from the same source and published within six weeks on either side of this one. This one has gotten more attention than average, scoring higher than 54% of its contemporaries.