Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs113488022
rs113488022
0.100 GeneticVariation BEFREE A mutational study by massive sequencing identified the Val600Glu (V600E) BRAF mutation in the Langerhans cell histiocytosis lesions, but no molecular alterations were found in the reticulohistiocytoma lesions. 31006900

2019

dbSNP: rs113488022
rs113488022
0.100 GeneticVariation BEFREE Here we present an unusual case of a patient with TP53-mutated chronic lymphocytic leukemia (CLL) treated with a PI3Kδ inhibitor evolving to clonally related Langerhans cell histiocytosis (LCH) with acquired BRAF V600E and STK11 mutations and loss of expression of PAX-5 and other examined B cell markers. 31317311

2019

dbSNP: rs113488022
rs113488022
0.100 GeneticVariation BEFREE BRAF V600E and Pten deletion in mice produces a histiocytic disorder with features of Langerhans cell histiocytosis. 31527903

2019

dbSNP: rs113488022
rs113488022
0.100 GeneticVariation BEFREE Although the BRAF V600E mutation constitutes the majority of molecular alterations in ECD and LCH, only three reported JXG neoplasms, all in male pediatric patients with localized central nervous system (CNS) involvement, are known to harbor the BRAF mutation. 31685033

2019

dbSNP: rs113488022
rs113488022
0.100 GeneticVariation BEFREE We analyzed multiple tumor types including melanoma, colorectal carcinoma, papillary thyroid cancer, hairy cell leukemia, and Langerhans cell histiocytosis using both DNA-based sequencing and the BRAF V600E mutation-specific antibody. 29271794

2019

dbSNP: rs121913377
rs121913377
0.100 GeneticVariation BEFREE BRAF V600E and Pten deletion in mice produces a histiocytic disorder with features of Langerhans cell histiocytosis. 31527903

2019

dbSNP: rs121913377
rs121913377
0.100 GeneticVariation BEFREE A mutational study by massive sequencing identified the Val600Glu (V600E) BRAF mutation in the Langerhans cell histiocytosis lesions, but no molecular alterations were found in the reticulohistiocytoma lesions. 31006900

2019

dbSNP: rs121913377
rs121913377
0.100 GeneticVariation BEFREE Although the BRAF V600E mutation constitutes the majority of molecular alterations in ECD and LCH, only three reported JXG neoplasms, all in male pediatric patients with localized central nervous system (CNS) involvement, are known to harbor the BRAF mutation. 31685033

2019

dbSNP: rs121913377
rs121913377
0.100 GeneticVariation BEFREE Here we present an unusual case of a patient with TP53-mutated chronic lymphocytic leukemia (CLL) treated with a PI3Kδ inhibitor evolving to clonally related Langerhans cell histiocytosis (LCH) with acquired BRAF V600E and STK11 mutations and loss of expression of PAX-5 and other examined B cell markers. 31317311

2019

dbSNP: rs121913377
rs121913377
0.100 GeneticVariation BEFREE We analyzed multiple tumor types including melanoma, colorectal carcinoma, papillary thyroid cancer, hairy cell leukemia, and Langerhans cell histiocytosis using both DNA-based sequencing and the BRAF V600E mutation-specific antibody. 29271794

2019

dbSNP: rs113488022
rs113488022
0.100 GeneticVariation BEFREE The use of BRAF V600E mutation-specific immunohistochemistry in pediatric Langerhans cell histiocytosis. 28219109

2018

dbSNP: rs113488022
rs113488022
0.100 GeneticVariation BEFREE The BRAF V600E mutation was detected in both LCH and ECD lesions. 30265230

2018

dbSNP: rs113488022
rs113488022
0.100 GeneticVariation BEFREE A breakthrough in understanding the pathogenesis of LCH occurred in 2010 when a gain-of-function mutation in BRAF (V600E) was identified in more than half of LCH patient samples. 30281871

2018

dbSNP: rs113488022
rs113488022
0.100 GeneticVariation BEFREE Vemurafenib currently has Food and Drug Administration approval for the treatment of BRAF V600E+ metastatic melanoma in adults, but recent discoveries of BRAF V600E in more than half of tested Langerhans cell histiocytosis lesions have prompted clinical trials of vemurafenib therapy for children with refractory, multisystem Langerhans cell histiocytosis. 30216522

2018

dbSNP: rs113488022
rs113488022
0.100 GeneticVariation BEFREE Patients with Langerhans cell histiocytosis (LCH) harbor BRAF V600E and activating mutations of MAP2K1/MEK1 in 50% and 25% of cases, respectively. 29768711

2018

dbSNP: rs121913377
rs121913377
0.100 GeneticVariation BEFREE The use of BRAF V600E mutation-specific immunohistochemistry in pediatric Langerhans cell histiocytosis. 28219109

2018

dbSNP: rs121913377
rs121913377
0.100 GeneticVariation BEFREE The BRAF V600E mutation was detected in both LCH and ECD lesions. 30265230

2018

dbSNP: rs121913377
rs121913377
0.100 GeneticVariation BEFREE Patients with Langerhans cell histiocytosis (LCH) harbor BRAF V600E and activating mutations of MAP2K1/MEK1 in 50% and 25% of cases, respectively. 29768711

2018

dbSNP: rs121913377
rs121913377
0.100 GeneticVariation BEFREE A breakthrough in understanding the pathogenesis of LCH occurred in 2010 when a gain-of-function mutation in BRAF (V600E) was identified in more than half of LCH patient samples. 30281871

2018

dbSNP: rs121913377
rs121913377
0.100 GeneticVariation BEFREE Vemurafenib currently has Food and Drug Administration approval for the treatment of BRAF V600E+ metastatic melanoma in adults, but recent discoveries of BRAF V600E in more than half of tested Langerhans cell histiocytosis lesions have prompted clinical trials of vemurafenib therapy for children with refractory, multisystem Langerhans cell histiocytosis. 30216522

2018

dbSNP: rs113488022
rs113488022
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

dbSNP: rs113488022
rs113488022
0.100 GeneticVariation BEFREE Mutated BRAF (p.V600E) is observed in histiocyte-related diseases and dendritic cell-related diseases, including LCH. 27041734

2017

dbSNP: rs121913377
rs121913377
0.100 GeneticVariation BEFREE Mutated BRAF (p.V600E) is observed in histiocyte-related diseases and dendritic cell-related diseases, including LCH. 27041734

2017

dbSNP: rs121913377
rs121913377
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

dbSNP: rs113488022
rs113488022
0.100 GeneticVariation BEFREE The presence of the BRAF V600E mutation may facilitate discrimination of ECD from other non-Langerhans cell histiocytoses. 26858028

2016