Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Childhood Langerhans Cell Histiocytosis
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
Childhood Langerhans Cell Histiocytosis
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
Childhood Langerhans Cell Histiocytosis
0.100 GeneticVariation BEFREE BRAF V600E and Pten deletion in mice produces a histiocytic disorder with features of Langerhans cell histiocytosis. 31527903 2019
Childhood Langerhans Cell Histiocytosis
0.100 GeneticVariation BEFREE The use of BRAF V600E mutation-specific immunohistochemistry in pediatric Langerhans cell histiocytosis. 28219109 2018
Childhood Langerhans Cell Histiocytosis
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
Childhood Langerhans Cell Histiocytosis
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
Childhood Langerhans Cell Histiocytosis
0.100 GeneticVariation BEFREE Activating BRAF V600E mutation in aggressive pediatric Langerhans cell histiocytosis: demonstration by allele-specific PCR/direct sequencing and immunohistochemistry. 25118810 2014
Childhood Langerhans Cell Histiocytosis
0.100 GeneticVariation BEFREE High prevalence of somatic MAP2K1 mutations in BRAF V600E-negative Langerhans cell histiocytosis. 24982505 2014
Childhood Langerhans Cell Histiocytosis
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
Childhood Langerhans Cell Histiocytosis
0.100 GeneticVariation BEFREE BRAF V600E expression in Langerhans cell histiocytosis: clinical and immunohistochemical study on 25 pulmonary and 54 extrapulmonary cases. 24625419 2014
Childhood Langerhans Cell Histiocytosis
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
Childhood Langerhans Cell Histiocytosis
0.100 GeneticVariation BEFREE Identification of the V600D mutation in Exon 15 of the BRAF oncogene in congenital, benign langerhans cell histiocytosis. 22996177 2013