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 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 GeneticVariation disease BEFREE Thus far, there is very limited data combining BRAF and NRAS mutation analysis to explore differences between cutaneous melanoma subtypes. 16899595 2006
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma
0.500 GeneticVariation disease BEFREE A total of 46 adult lymph node-positive primary skin melanoma patients (23 BRAF-mutant and 23 BRAF-wild) with available information on the mutational status of the oncogene BRAF V600E were included in the analysis. 30997532 2019
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 Previous studies suggest that solar UV exposure in early life is predictive of cutaneous melanoma risk in adulthood, whereas the relation of BRAF mutation with sun exposure and disease prognosis has been less certain. 25048604 2014
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma
0.500 GeneticVariation disease BEFREE Dermoscopic criteria associated with BRAF and NRAS mutation status in primary cutaneous melanoma. 24749938 2014
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 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 GeneticVariation disease BEFREE The use of selective BRAF inhibitors (BRAFi) has produced remarkable outcomes for patients with advanced cutaneous melanoma harboring a <i>BRAF<sup>V600E</sup></i> mutation. 31416844 2019
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma
0.500 GeneticVariation disease BEFREE Somatic B-RAF gene mutation has been identified in many malignancies and detected at a high frequency in cutaneous malignant melanoma. 17404088 2007
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma
0.500 GeneticVariation disease BEFREE These data suggest that UV exposure, plays a role in the genesis of BRAF mutations in cutaneous melanoma, despite the absence of the characteristic C>T or CC>TT mutation signature associated with UV exposure, and suggests mechanisms other than pyrimidine dimer formation are important in UV-induced mutagenesis. 15060100 2004
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma
0.500 AlteredExpression disease BEFREE Archived consecutive samples (n=107) of primary cutaneous melanoma were retrieved and assessed for the following: CXCR4 mRNA (semiquantitative RT-PCR) and BRAF exon 15 status (DNA Sanger sequencing). 25211166 2014
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma
0.500 GeneticVariation disease BEFREE Because the Mitogen-Activated Protein Kinase (MAPK) pathway plays such a significant role in melanoma development, we explore v-raf murine sarcoma viral oncogene homolog B (<i>BRAF)</i> and neuroblastoma RAS viral oncogene homolog (<i>NRAS)</i> mutations in mucosal melanoma and compare them to the mutation profiles in cutaneous melanoma and other tumors with <i>BRAF</i> and <i>NRAS</i> mutations. 31398831 2019
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma
0.500 GeneticVariation disease BEFREE With regard to the frequency of V599E BRAF mutations, AM significantly differs from CM (P < or = .0001), which suggests that BRAF mutations distinguish anorectal from cutaneous melanoma at the molecular level. 15578519 2004
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma
0.500 GeneticVariation disease BEFREE We propose an assay based on the use of a locked nucleic acid probe and an allele specific primer to measure plasma-circulating BRAF(V600E) concentration in patients affected by cutaneous melanoma (n=55) and non-melanoma skin cancers (n=13) as well as 18 healthy subjects. 20576522 2010
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 Putative genomic characteristics of BRAF V600K versus V600E cutaneous melanoma. 28858076 2017
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 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 BRAF mutations have recently been detected with a high frequency (66%) in cutaneous melanoma. 14501284 2003
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 Biomarker disease BEFREE BRAF and MEK inhibitors have demonstrated significant survival benefits for patients with cutaneous melanoma. 30205280 2018
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 Biomarker disease BEFREE Metastatic uveal melanoma (MUM) does not harbor typically targetable mutations, e.g., BRAF as in cutaneous melanoma. 29433557 2018