Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0278883
Disease: Metastatic melanoma
Metastatic melanoma
0.100 GeneticVariation disease BEFREE Here, we present the case of a patient with recurrent metastatic melanoma who was found to have germline BAP1 and somatic BRAF mutation by clinical genomic sequencing. 29554022 2019
CUI: C0278883
Disease: Metastatic melanoma
Metastatic melanoma
0.100 GeneticVariation disease BEFREE Our study provides evidence that high ALDH1A3 mRNA expression is not only a prognostic marker but also a predictive marker for BRAF/MEK inhibitor treatment response in BRAF-mutant metastatic melanoma patients. 31580832 2019
CUI: C0278883
Disease: Metastatic melanoma
Metastatic melanoma
0.100 GeneticVariation disease BEFREE High concordance of BRAF mutational status in matched primary and metastatic melanoma. 30430609 2019
CUI: C0278883
Disease: Metastatic melanoma
Metastatic melanoma
0.100 Biomarker disease BEFREE The MEK inhibitors cobimetinib and trametinib are used in combination with BRAF inhibitors to treat metastatic melanoma but increase rates of hemorrhage relative to BRAF inhibitors alone. 30252580 2019
CUI: C0278883
Disease: Metastatic melanoma
Metastatic melanoma
0.100 Biomarker disease BEFREE Despite the clinical success of BRAF inhibitors like vemurafenib in treating metastatic melanoma, resistance has emerged through "paradoxical MEK/ERK signaling" where transactivation of one protomer occurs as a result of drug inhibition of the other partner in the activated dimer. 30977659 2019
CUI: C0278883
Disease: Metastatic melanoma
Metastatic melanoma
0.100 Biomarker disease BEFREE In Japan, the immune checkpoint inhibitors ipilimumab, nivolumab and pembrolizumab, the BRAF inhibitor (BRAFi) vemurafenib, dabrafenib and MEK inhibitor (MEKi) trametinib have been available for the treatment of unresectable and metastatic melanoma. 29470725 2019
CUI: C0278883
Disease: Metastatic melanoma
Metastatic melanoma
0.100 Biomarker disease BEFREE Cutaneous adverse reactions in B-RAF positive metastatic melanoma following sequential treatment with B-RAF/MEK inhibitors and immune checkpoint blockade or vice versa. A single-institutional case-series. 30621779 2019
CUI: C0278883
Disease: Metastatic melanoma
Metastatic melanoma
0.100 GeneticVariation disease BEFREE All MM cases (excluding ocular MM, n = 837) diagnosed in three non-consecutive years marked by major changes in the first-line treatments (2012: interleukin-2 and BRAF inhibitors; 2014: anti-CTLA-4: Cytotoxic T-Lymphocyte Antigen 4 and 2016: anti-PD-1: programmed cell death protein 1 and MEK inhibitors) were retrieved. 30605822 2019
CUI: C0278883
Disease: Metastatic melanoma
Metastatic melanoma
0.100 GeneticVariation disease BEFREE Accordingly, BRAF mutation determination is standard-of-care in metastatic melanoma, and a rapid, accurate assay is desirable. 31833840 2019
CUI: C0278883
Disease: Metastatic melanoma
Metastatic melanoma
0.100 GeneticVariation disease BEFREE Proteomic test for anti-PD-1 checkpoint blockade treatment of metastatic melanoma with and without BRAF mutations. 30925943 2019
CUI: C0278883
Disease: Metastatic melanoma
Metastatic melanoma
0.100 Biomarker disease BEFREE We evaluated whether BRAF and NRAS mutational testing could contribute to the diagnosis of dedifferentiated metastatic melanoma when immunostains are negative. 30315274 2019
CUI: C0278883
Disease: Metastatic melanoma
Metastatic melanoma
0.100 Biomarker disease BEFREE Dual inhibition of the mitogen-activated protein kinase pathway with BRAF/MEK inhibitor (BRAFi/MEKi) therapy is a standard treatment for BRAFV600-mutant metastatic melanoma and has historically been associated with grade III pyrexia or photosensitivity depending on the combination used. 31437754 2019
CUI: C0278883
Disease: Metastatic melanoma
Metastatic melanoma
0.100 Biomarker disease BEFREE We have developed and compared several metastatic melanoma (MM) models cultured as a monolayer (2D) and cocultured on three dimensional (3D) dermal equivalents with fibroblasts to better unravel factors modulating cell sensitivity to vemurafenib, a BRAF inhibitor. 30501565 2019
CUI: C0278883
Disease: Metastatic melanoma
Metastatic melanoma
0.100 GeneticVariation disease BEFREE Data analysis from The Cancer Genome Atlas (TCGA) confirmed higher ZEB1-AS1 expression in metastatic melanoma and its association with hotspot mutations in BRAF (B-Raf proto-oncogene, serine/threonine kinase) gene and RAS family genes. 31383874 2019
CUI: C0278883
Disease: Metastatic melanoma
Metastatic melanoma
0.100 GeneticVariation disease BEFREE Conclusion This 5-year analysis represents the longest follow-up to date with BRAF + MEK inhibitor combination therapy in BRAF V600-mutant MM. 28991513 2018
CUI: C0278883
Disease: Metastatic melanoma
Metastatic melanoma
0.100 Biomarker disease BEFREE BRAF inhibitor vemurafenib achieves high response rate and an improvement in survival in patients with BRAF-mutated metastatic melanoma. 29552321 2018
CUI: C0278883
Disease: Metastatic melanoma
Metastatic melanoma
0.100 Biomarker disease BEFREE Nicotinamide Phosphoribosyltransferase (NAMPT) as a Therapeutic Target in BRAF-Mutated Metastatic Melanoma. 29309612 2018
CUI: C0278883
Disease: Metastatic melanoma
Metastatic melanoma
0.100 Biomarker disease BEFREE We conclude that expressed somatic mutations in infrequently mutated genes beyond the well-characterized ones (e.g., <i>BRAF, RAS, CDKN2A, PTEN, TP53</i>), such as <i>RAC1</i> and <i>SPEN</i>, may have prognostic significance in MM. 30662871 2018
CUI: C0278883
Disease: Metastatic melanoma
Metastatic melanoma
0.100 GeneticVariation disease BEFREE We identified 2 patients with BRAF L597S metastatic melanoma who were treated with dMAPKi. 29903896 2018
CUI: C0278883
Disease: Metastatic melanoma
Metastatic melanoma
0.100 Biomarker disease BEFREE We provide a hypothetical example SMART design for BRAF wild-type metastatic melanoma as a framework for investigating immunotherapy treatment regimens. 28835379 2018
CUI: C0278883
Disease: Metastatic melanoma
Metastatic melanoma
0.100 GeneticVariation disease BEFREE Encorafenib/binimetinib for the treatment of BRAF-mutant advanced, unresectable, or metastatic melanoma: design, development, and potential place in therapy. 30588020 2018
CUI: C0278883
Disease: Metastatic melanoma
Metastatic melanoma
0.100 Biomarker disease BEFREE To determine whether the NLR before starting BRAF inhibitor (BRAFi) treatment in patients with (MM) is associated with progression-free survival (PFS). 29336315 2018
CUI: C0278883
Disease: Metastatic melanoma
Metastatic melanoma
0.100 GeneticVariation disease BEFREE One hundred and eighty patients with BRAF-mutant metastatic melanoma who had progressed on treatment with single-agent BRAFi from February 2010 to April 2015 were included in a retrospective data analysis focused on patterns of progression, treatment beyond progression (TBP) and subsequent treatments after BRAFi therapy. 29266761 2018
CUI: C0278883
Disease: Metastatic melanoma
Metastatic melanoma
0.100 GeneticVariation disease BEFREE The outcomes of those with BM remain poor, particularly of those with BRAF mutant MM who fail TKI therapy with new BM. 29932306 2018
CUI: C0278883
Disease: Metastatic melanoma
Metastatic melanoma
0.100 GeneticVariation disease BEFREE Activating mutations in the BRAF oncogene are observed in approximately 50% of cutaneous melanomas and the use of BRAF inhibitor (BRAFi) compounds has been reported to improve the outcome of patients with BRAF-mutated metastatic melanoma. 29956724 2018