Disease: Cutaneous Melanoma ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma 		0.500 GeneticVariation disease BEFREE A set of 250 probes representing 209 genes that were significantly (raw P< or =0.001) associated with BRAF mutation status was identified and 17 of these were previously shown to be implicated in cutaneous melanoma progression or pigmentation pathway-associated genes driven by the microphthalmia transcription factor (MITF). 19383316 2008
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma 		0.500 AlteredExpression disease BEFREE However, the CM energetic demand mainly depends on glycolysis, whose upregulation is strictly linked to constitutive activation of BRAF/MAPK pathway affected by BRAF<sup>V600E</sup> kinase mutant. 31362075 2019
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma 		0.500 Biomarker disease BEFREE Targeted BRAF and MEK inhibition has become an appropriate first-line treatment of BRAF-mutant advanced cutaneous melanoma. 31753111 2020
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma 		0.500 Biomarker disease BEFREE Is BRAF a prognostic factor in stage III skin melanoma? A retrospective study of 72 patients after positive sentinel lymph node dissection. 24602025 2014
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma 		0.500 GeneticVariation disease BEFREE The significance of BRAF V600E mutation status discordance between primary cutaneous melanoma and brain metastases: The implications for BRAF inhibitor therapy. 29310328 2017
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma 		0.500 GeneticVariation disease BEFREE In contrast to cutaneous melanoma, there is no evidence that BRAF mutations are involved in the activation of the mitogen-activated protein kinase (MAPK) pathway in uveal melanoma, although there is increasing evidence that this pathway is activated frequently in the latter tumours. 15928660 2005
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma 		0.500 AlteredExpression disease BEFREE We observed that both PDK 1 and 2 isoforms are overexpressed in CM compared to nevi, this expression being associated with the expression of the mTOR pathway effectors and independent of the BRAF mutational status. 25976231 2015
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma 		0.500 Biomarker disease BEFREE BRAF inhibitors substantially have impressive clinical efficacy in cutaneous melanoma. 28485171 2019
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma 		0.500 GeneticVariation disease BEFREE We investigated 132 cases of primary cutaneous melanoma in patients aged between 18 and 30 years with emphasis on clinical characteristics, pathologic features, and molecular evaluation of mutation in the BRAF gene (BRAF(V600E)). 24471189 2014
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma 		0.500 Biomarker disease BEFREE Association between dermoscopic and reflectance confocal microscopy features of cutaneous melanoma with BRAF mutational status. 27790766 2017
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma 		0.500 GeneticVariation disease BEFREE To identify the dermoscopic features associated with BRAF mutation in cutaneous melanoma and to evaluate a model capable of predicting BRAF mutations on the basis of dermoscopic and clinicopathologic features that are easily accessible in normal clinical practice. 29307636 2018
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma 		0.500 GeneticVariation disease BEFREE An activating mutation has been recently observed in cutaneous melanoma in a downstream component of RAS-BRAF. 15179189 2004
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma 		0.500 GeneticVariation disease BEFREE No BRAF exon 11 mutations were observed among seven CMs and nine UMs that were wild-type for exon 15. 14522897 2003
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma 		0.500 GeneticVariation disease BEFREE BRAF mutation is seen in a variety of human neoplasms including cutaneous malignant melanoma, papillary thyroid carcinoma, colorectal carcinoma, non-small cell lung carcinoma, pleomorphic xanthoastrocytoma, and others. 24071017 2013
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma 		0.500 GeneticVariation disease BEFREE Additionally, an analysis of the correlation network reconstructed using TCGA-SKCM emphasized KMO and KYNU with high variability among BRAF wild-type compared with V600E, which underscored their role in distinct CD4+ T-cell behavior in tumour immunity. 31434983 2019
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma 		0.500 GeneticVariation disease BEFREE The study population comprised 83 patients with advanced cutaneous melanoma presenting with BRAF V600 mutation. 29084636 2017
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma 		0.500 GeneticVariation disease BEFREE Coexistence of TERT promoter and BRAF mutations in cutaneous melanoma is associated with more clinicopathological features of aggressiveness. 26055532 2015
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma 		0.500 GeneticVariation disease BEFREE Significant differences in BRAF exon 15 mutation frequency were found: 14/16 (87.5%) in common acquired naevi (CANs), 9/12 (75%) in CMs, 0/26 in Spitz naevi and 3/25 (12%) in blue naevi (p < 0.01). 15252839 2004
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma 		0.500 GeneticVariation disease CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma 		0.500 Biomarker disease BEFREE Recently, germline variants of the melanocortin-1 receptor (MC1R) have been shown to be associated with an increased risk for BRAF mutant but not BRAF wild-type cutaneous melanoma. 19493000 2009
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma 		0.500 Biomarker disease BEFREE There is no standard oncological treatment available for metastatic UM patients, and BRAF/MEK and immune checkpoint inhibitors show disappointing results when compared to cutaneous melanoma (CM). 31200439 2019
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma 		0.500 GeneticVariation disease BEFREE Notably, common BRAF and NRAS mutations in cutaneous melanoma are associated with increased miR-21 expression. 26116372 2015
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma 		0.500 GeneticVariation disease BEFREE Previous studies have shown frequent mutations in the BRAF (V-raf murine sarcoma viral oncogene homolog B1) or NRAS (neuroblastoma RAS viral [V-ras] oncogene homolog) genes in cutaneous melanoma, but the relationship between these alterations and tumor cell proliferation has not been examined in human melanoma. 16098042 2005
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma 		0.500 GeneticVariation disease BEFREE Mitogen-activates protein kinase (MAPK) inhibitors, particularly MEK inhibitors, have shifted the treatment paradigm for metastatic BRAF-mutant cutaneous melanoma; however, oncologists, ophthalmologists, and patients have noticed different toxicities of variable importance. 30681641 2019
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma 		0.500 GeneticVariation disease BEFREE Mutational activation of the BRAF oncogene is the most common genetic alteration in cutaneous melanoma. 19033861 2009