Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
---|---|---|---|---|---|---|---|---|---|---|---|
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 | 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 | High prevalence of somatic MAP2K1 mutations in BRAF V600E-negative Langerhans cell histiocytosis. | 24982505 | 2014 | |||||
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 | 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 | 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 | Identification of the V600D mutation in Exon 15 of the BRAF oncogene in congenital, benign langerhans cell histiocytosis. | 22996177 | 2013 | |||||
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 | 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 | 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 | 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 |