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 Oncogenic mutations in c-KIT, NRAS and BRAF components of the MAPK pathway have been identified in nearly 90% of cutaneous melanoma and this information has been used to develop small molecules that inhibit their activity. 29061773 2017
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma
0.500 GeneticVariation disease BEFREE Putative genomic characteristics of BRAF V600K versus V600E cutaneous melanoma. 28858076 2017
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma
0.500 GeneticVariation disease BEFREE Vemurafenib and dabrafenib, two Food and Drug Administration-approved selective BRAF kinase inhibitors (BRAFi), have revolutionized the targeted therapy of cutaneous melanoma. 28252478 2017
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma
0.500 GeneticVariation disease BEFREE Seventy-eight cases of CN involving SLN of PCM patients were evaluated for BRAF V600E mutation by IHC. 27666765 2017
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma
0.500 GeneticVariation disease BEFREE The development of cutaneous melanoma is influenced by genetic factors, including BRAF mutations and environmental factors, such as ultraviolet exposure. 28075446 2017
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma
0.500 GeneticVariation disease BEFREE Hotspot mutations of the oncogenes BRAF and NRAS are the most common genetic alterations in cutaneous melanoma. 28797232 2017
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma
0.500 Biomarker disease BEFREE Many new treatment options in the last years, in particular targeted therapies (i.e. inhibitors of c-KIT, NRAS/MEK or BRAF) and immunotherapies (anti CTLA-4 and anti PD-1/PD-L1 antibodies), have changed the history of cutaneous melanoma. 28325255 2017
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma
0.500 GeneticVariation disease BEFREE Among 41 response-evaluable patients, 2 (5 %) patients with cutaneous melanoma (one with BRAF L597R mutant melanoma) had partial responses. 27650277 2017
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma
0.500 Biomarker disease BEFREE BRAF and Epithelial-Mesenchymal Transition: Lessons From Papillary Thyroid Carcinoma and Primary Cutaneous Melanoma. 27145091 2016
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 GeneticVariation disease BEFREE Aquaporin 1 protein expression is associated with BRAF V600 mutation and adverse prognosis in cutaneous melanoma. 26848795 2016
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma
0.500 Biomarker disease BEFREE We sought to elucidate the relationship between BRAF, Snail, E-cadherin, and established histopathologic prognosticators in primary cutaneous melanoma. 26980024 2016
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma
0.500 Biomarker disease BEFREE To our knowledge, this is the first reported case of paraneoplastic neurological syndrome with mixed neurology associated with BRAF mutant cutaneous melanoma that responded to BRAF targeted therapy. 27138260 2016
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma
0.500 Biomarker disease BEFREE Oncogenic BRAF induces chronic ER stress condition resulting in increased basal autophagy and apoptotic resistance of cutaneous melanoma. 25361077 2015
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 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 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 The BRAF V600E mutation accounts for the majority of BRAF mutations found in cutaneous melanoma and is also commonly found in nevi. 25607474 2015
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma
0.500 GeneticVariation disease BEFREE Comparison between two widely used laboratory methods in BRAF V600 mutation detection in a large cohort of clinical samples of cutaneous melanoma metastases to the lymph nodes. 26339422 2015
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma
0.500 GeneticVariation disease BEFREE Russian study of morphological prognostic factors characterization in BRAF-mutant cutaneous melanoma. 25888143 2015
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma
0.500 GeneticVariation disease BEFREE BRAF mutations are present in 40% of human skin melanomas. 26141748 2015
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma
0.500 GeneticVariation disease BEFREE Cutaneous malignant melanoma is the leading cause of death from skin diseases and is often associated with activating mutations of the proto-oncogene BRAF. 25174976 2015
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma
0.500 GeneticVariation disease BEFREE We sought to further evaluate the prognostic value of BRAF mutations in localized cutaneous melanoma. 24388723 2014
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma
0.500 GeneticVariation disease BEFREE The present study investigated the BRAF V600E mutation frequency and its clinical implications in a group of 77 primary cutaneous melanoma patients treated in a cancer reference center in Brazil. 24535907 2014
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma
0.500 GeneticVariation disease BEFREE The purpose of this study is to describe a case of concurrent medullary and papillary thyroid carcinoma (MTC and PTC) and cutaneous melanoma and to analyze BRAF(V600E) mutation in plasma and tissues. 24858900 2014