Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Histiocytosis, Langerhans-Cell
CUI: C0019621
Disease: Histiocytosis, Langerhans-Cell
0.100 GeneticVariation BEFREE The high frequency of BRAF(V600E) in LCH and ECD suggests a common origin of these diseases. 22879539 2012
Histiocytosis, Langerhans-Cell
CUI: C0019621
Disease: Histiocytosis, Langerhans-Cell
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
Histiocytosis, Langerhans-Cell
CUI: C0019621
Disease: Histiocytosis, Langerhans-Cell
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
Histiocytosis, Langerhans-Cell
CUI: C0019621
Disease: Histiocytosis, Langerhans-Cell
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
Histiocytosis, Langerhans-Cell
CUI: C0019621
Disease: Histiocytosis, Langerhans-Cell
0.100 GeneticVariation BEFREE BRAF(V600E) was not limited to LCH and was detected more frequently in histiocytic sarcoma. 24720374 2014
Histiocytosis, Langerhans-Cell
CUI: C0019621
Disease: Histiocytosis, Langerhans-Cell
0.100 GeneticVariation BEFREE BRAF V600E expression in Langerhans cell histiocytosis: clinical and immunohistochemical study on 25 pulmonary and 54 extrapulmonary cases. 24625419 2014
Histiocytosis, Langerhans-Cell
CUI: C0019621
Disease: Histiocytosis, Langerhans-Cell
0.100 GeneticVariation BEFREE High prevalence of somatic MAP2K1 mutations in BRAF V600E-negative Langerhans cell histiocytosis. 24982505 2014
Histiocytosis, Langerhans-Cell
CUI: C0019621
Disease: Histiocytosis, Langerhans-Cell
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
Histiocytosis, Langerhans-Cell
CUI: C0019621
Disease: Histiocytosis, Langerhans-Cell
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
Histiocytosis, Langerhans-Cell
CUI: C0019621
Disease: Histiocytosis, Langerhans-Cell
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
Histiocytosis, Langerhans-Cell
CUI: C0019621
Disease: Histiocytosis, Langerhans-Cell
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
Histiocytosis, Langerhans-Cell
CUI: C0019621
Disease: Histiocytosis, Langerhans-Cell
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
Histiocytosis, Langerhans-Cell
CUI: C0019621
Disease: Histiocytosis, Langerhans-Cell
0.100 GeneticVariation BEFREE All patients were refractory to first-line treatment and harbored a BRAF(V600E) mutation.Four patients also had LCH lesions. 25422482 2015
Histiocytosis, Langerhans-Cell
CUI: C0019621
Disease: Histiocytosis, Langerhans-Cell
0.100 GeneticVariation BEFREE However, the development of resistance, as well as the potential risks of cutaneous and pancreatic cancers in patients with BRAF-V600E-mutated melanoma treated with single inhibitors, suggest the need for prospective trials with BRAF inhibitors, alone or in combination with other inhibitors of this pathway, for patients with refractory or multiply-relapsed LCH. 26637773 2015
Histiocytosis, Langerhans-Cell
CUI: C0019621
Disease: Histiocytosis, Langerhans-Cell
0.100 GeneticVariation BEFREE Patients with Langerhans cell histiocytosis</span> (LCH) and Erdheim-Chester disease (ECD) have a high frequency of BRAF(V600E) mutations and respond to RAF inhibitors. 25324352 2015
Histiocytosis, Langerhans-Cell
CUI: C0019621
Disease: Histiocytosis, Langerhans-Cell
0.100 GeneticVariation BEFREE However, at least in the cases of LCH and ECD, there is a very high frequency of activating mutations in MAPK pathway genes, most notably BRAF-V600E, as well as MAP2K1, in LCH and NRAS in ECD. 26637772 2015
Histiocytosis, Langerhans-Cell
CUI: C0019621
Disease: Histiocytosis, Langerhans-Cell
0.100 GeneticVariation BEFREE The presence of the BRAF V600E mutation may facilitate discrimination of ECD from other non-Langerhans cell histiocytoses. 26858028 2016
Histiocytosis, Langerhans-Cell
CUI: C0019621
Disease: Histiocytosis, Langerhans-Cell
0.100 GeneticVariation BEFREE In children with LCH, BRAF(V600E) mutation was associated with high-risk features, permanent injury, and poor short-term response to chemotherapy. 27382093 2016
Histiocytosis, Langerhans-Cell
CUI: C0019621
Disease: Histiocytosis, Langerhans-Cell
0.100 GeneticVariation BEFREE BRAF (V600E) mutations were detected in both the LCH and ECD areas. 26466952 2016
Histiocytosis, Langerhans-Cell
CUI: C0019621
Disease: Histiocytosis, Langerhans-Cell
0.100 GeneticVariation BEFREE In the univariate analysis, the presence of concurrent BRAF(V600E) and NRAS(Q61K) (/R) mutations was significantly associated with patient outcome.These findings highlight the importance of NRAS genotyping of pulmonary LCH lesions because the use of BRAF inhibitors in this context may lead to paradoxical disease progression. 27076591 2016
Histiocytosis, Langerhans-Cell
CUI: C0019621
Disease: Histiocytosis, Langerhans-Cell
0.100 GeneticVariation BEFREE The V600E mutation was detected in FFPE tissue samples from 32 LCH patients; our assay was able to identify mutations in four samples that gave inconclusive results, and ten that were negative, according to standard PCR and sequencing. 27094161 2016
Histiocytosis, Langerhans-Cell
CUI: C0019621
Disease: Histiocytosis, Langerhans-Cell
0.100 GeneticVariation BEFREE Mutated BRAF (p.V600E) is observed in histiocyte-related diseases and dendritic cell-related diseases, including LCH. 27041734 2017
Histiocytosis, Langerhans-Cell
CUI: C0019621
Disease: Histiocytosis, Langerhans-Cell
0.100 GeneticVariation BEFREE We conclude that lymphoma-associated Langerhans cell histiocytosis is a clinically benign process that is not associated with BRAF V600E or MAP2K1 mutations and, as suggested by others, the designation Langerhans cell hyperplasia may be more appropriate. 28084334 2017
Histiocytosis, Langerhans-Cell
CUI: C0019621
Disease: Histiocytosis, Langerhans-Cell
0.100 GeneticVariation BEFREE The use of BRAF V600E mutation-specific immunohistochemistry in pediatric Langerhans cell histiocytosis. 28219109 2018
Histiocytosis, Langerhans-Cell
CUI: C0019621
Disease: Histiocytosis, Langerhans-Cell
0.100 GeneticVariation BEFREE The BRAF V600E mutation was detected in both LCH and ECD lesions. 30265230 2018