| Gene | Score gda | Association Type | Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.070 | AlteredExpression | disease | BEFREE | Langerhans cell histiocytosis (LCH) is the most common histiocytosis with constitutive activation of the RAS-RAF-MEK-ERK (MAPKinase) cell signaling pathway. | 30098202 | 2019 | ||||
|
0.070 | GeneticVariation | disease | BEFREE | We evaluated a patient with treatment-refractory LCH for mutations in the RAS-RAF-MEK-ERK pathway and identified a novel mutation in the MAP2K1 gene resulting in a p.L98_K104 > Q deletion and predicted to be auto-activating. | 29768711 | 2018 | ||||
|
0.070 | Biomarker | disease | BEFREE | Therefore, the RAS/RAF/MEK/ERK pathway might play a more important role in children than in adult patients with LCH. | 27597420 | 2017 | ||||
|
0.070 | AlteredExpression | disease | BEFREE | Langerhans cell histiocytosis (LCH) is an inflammatory myeloid neoplasia with constitutive activation of the MAPKinase RAS-RAF-MEK-ERK cell signaling pathway. | 28679432 | 2017 | ||||
|
0.070 | AlteredExpression | disease | BEFREE | The demonstration of clonality of LCH cells, insufficient evidence alone for neoplasia, is now bolstered by finding driver somatic mutations in BRAF in up to 55% of patients with LCH, and activation of the RAS-RAF-MEK-ERK (where MEK and ERK are mitogen-activated protein kinase and extracellular signal-regulated kinase, respectively) pathway in nearly 100% of patients with LCH. | 27314817 | 2016 | ||||
|
0.070 | GeneticVariation | disease | BEFREE | Identification of the activating BRAFV600E mutation in Erdheim-Chester disease (ECD) and Langerhans cell histiocytosis (LCH) cases provided the basis for the treatment with BRAF and/or MEK inhibitors, but additional treatment options are needed. | 26110571 | 2015 | ||||
|
0.070 | Biomarker | disease | BEFREE | The recent discovery of somatic mutations in ARAF and in MAP2K1, which lead to activation of the RAS-RAF-MEK -ERK pathway in the setting of wild-type BRAF, as well as the finding that activating mutation in MAP2K1 are relatively insensitive to MEK inhibitors, suggest that a more detailed understanding of this pathway in LCH may be necessary for the development of more effective targeted therapies. | 26637773 | 2015 |