Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121913377
rs121913377
0.100 GeneticVariation BEFREE Localized Langerhans cell histiocytosis of the thymus with BRAF V600E mutation: a case report with immunohistochemical and genetic analyses. 24703101

2014

dbSNP: rs121913377
rs121913377
0.100 GeneticVariation BEFREE BRAF V600E expression in Langerhans cell histiocytosis: clinical and immunohistochemical study on 25 pulmonary and 54 extrapulmonary cases. 24625419

2014

dbSNP: rs121913377
rs121913377
0.100 GeneticVariation BEFREE BRAF(V600E) was not limited to LCH and was detected more frequently in histiocytic sarcoma. 24720374

2014

dbSNP: rs121913377
rs121913377
0.100 GeneticVariation BEFREE In conclusion, activating V600E BRAF mutation can be frequently demonstrated in pediatric LCH by both allele-specific PCR and IHC. 25118810

2014

dbSNP: rs121913377
rs121913377
0.100 GeneticVariation BEFREE In a series of pulmonary (19 cases) and non-pulmonary LCH (19 cases), including five aggressive cases, we investigated occurrence of the BRAF V600E mutation by molecular analysis and/or immunohistochemistry using a validated antibody (VE1). 24471909

2014

dbSNP: rs121913377
rs121913377
0.100 GeneticVariation BEFREE High prevalence of somatic MAP2K1 mutations in BRAF V600E-negative Langerhans cell histiocytosis. 24982505

2014

dbSNP: rs121913377
rs121913377
0.100 GeneticVariation BEFREE We found the BRAF(V600E) mutation in 11 (69%) of 16 LCH lesions and in 9 (82%) of 11 ECD lesions. 24894769

2014

dbSNP: rs121913377
rs121913377
0.100 GeneticVariation BEFREE Consistent with our findings in humans, expression of BRAF-V6</span>00E in BM DC progenitors recapitulated many features of the human high-risk LCH, whereas BRAF-V600E expression in differentiated DCs more closely resembled low-risk LCH. 24638167

2014

dbSNP: rs113488022
rs113488022
0.100 GeneticVariation BEFREE Although BRAF V600E mutations were recently identified as a recurrent genetic alteration in LCH cases, the clinical significance of this mutation within the heterogeneous spectrum of LCH is also currently unknown. 22996177

2013

dbSNP: rs113488022
rs113488022
0.100 GeneticVariation BEFREE Dramatic efficacy of vemurafenib in both multisystemic and refractory Erdheim-Chester disease and Langerhans cell histiocytosis harboring the BRAF V600E mutation. 23258922

2013

dbSNP: rs121913377
rs121913377
0.100 GeneticVariation BEFREE Dramatic efficacy of vemurafenib in both multisystemic and refractory Erdheim-Chester disease and Langerhans cell histiocytosis harboring the BRAF V600E mutation. 23258922

2013

dbSNP: rs121913377
rs121913377
0.100 GeneticVariation BEFREE Our report is the first to identify the rare, variant BRAF V600D</span> mutation in LCH, and provides support for constitutively activated BRAF oncogene-induced cell senescence as a mechanism of regression in congenital, benign LCH. 22996177

2013

dbSNP: rs113488022
rs113488022
0.100 GeneticVariation BEFREE Our data confirmed presence of the (V600E)B-RAF mutation in LCH granuloma of some patients, and identify two novel B-RAF mutations. 22506009

2012

dbSNP: rs113488022
rs113488022
0.100 GeneticVariation BEFREE The high frequency of BRAF(V600E) in LCH and ECD suggests a common origin of these diseases. 22879539

2012

dbSNP: rs121913377
rs121913377
0.100 GeneticVariation BEFREE The high frequency of BRAF(V600E) in LCH and ECD suggests a common origin of these diseases. 22879539

2012

dbSNP: rs121913377
rs121913377
0.100 GeneticVariation BEFREE Our data confirmed presence of the (V600E)B-RAF mutation in LCH granuloma of some patients, and identify two novel B-RAF mutations. 22506009

2012