Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs113488022
rs113488022
0.800 GeneticVariation BEFREE The p.V600E mutation in the BRAF protein is the most frequent mutation in cutaneous melanoma and is a recurrent alteration found in common benign naevi. 31102256

2020

dbSNP: rs113488022
rs113488022
0.800 GeneticVariation BEFREE A 39-year-old white male was treated with vemurafenib, cobimetinib, and atezolizumab for a stage IV (T0, N3, M1) BRAF-V600E mutated malignant melanoma in the context of a clinical trial. 31157737

2020

dbSNP: rs113488022
rs113488022
0.800 GeneticVariation BEFREE The V600E mutation of BRAF (BRAF<sup>V600E</sup>), which constitutively activates the ERK/MAPK signaling pathway, is frequently found in melanoma and other cancers. 31548614

2020

dbSNP: rs113488022
rs113488022
0.800 GeneticVariation BEFREE While under normoxic conditions the expression of glycolysis-related genes showed no correlation with origin or BRAF mutation status, GLUT1 expression was significantly elevated in metastatic and BRAF-V600E mutated melanoma cell lines under hypoxic conditions. 31791701

2020

dbSNP: rs113488022
rs113488022
0.800 GeneticVariation BEFREE Combinations of BRAF inhibitors and MEK inhibitors (BRAFi + MEKi) are FDA-approved to treat BRAF V600E/K mutant melanoma. 31796433

2020

dbSNP: rs121913227
rs121913227
0.800 GeneticVariation BEFREE V600R-mutant melanoma accounts for a significant number of cases even in single-institution practices. 31305324

2020

dbSNP: rs121913377
rs121913377
0.800 GeneticVariation BEFREE The p.V600E mutation in the BRAF protein is the most frequent mutation in cutaneous melanoma and is a recurrent alteration found in common benign naevi. 31102256

2020

dbSNP: rs121913377
rs121913377
0.800 GeneticVariation BEFREE A 39-year-old white male was treated with vemurafenib, cobimetinib, and atezolizumab for a stage IV (T0, N3, M1) BRAF-V600E mutated malignant melanoma in the context of a clinical trial. 31157737

2020

dbSNP: rs121913377
rs121913377
0.800 GeneticVariation BEFREE The V600E mutation of BRAF (BRAF<sup>V600E</sup>), which constitutively activates the ERK/MAPK signaling pathway, is frequently found in melanoma and other cancers. 31548614

2020

dbSNP: rs121913377
rs121913377
0.800 GeneticVariation BEFREE While under normoxic conditions the expression of glycolysis-related genes showed no correlation with origin or BRAF mutation status, GLUT1 expression was significantly elevated in metastatic and BRAF-V600E mutated melanoma cell lines under hypoxic conditions. 31791701

2020

dbSNP: rs121913377
rs121913377
0.800 GeneticVariation BEFREE Combinations of BRAF inhibitors and MEK inhibitors (BRAFi + MEKi) are FDA-approved to treat BRAF V600E/K mutant melanoma. 31796433

2020

dbSNP: rs113488022
rs113488022
0.800 GeneticVariation BEFREE Specific mutations of RAF kinases, such as the prevalent BRAF(V600E) mutation in melanoma, or defects in upstream signaling or feedback loops cause decoupled kinase activities which lead to tumorigenesis. 28466200

2019

dbSNP: rs113488022
rs113488022
0.800 GeneticVariation BEFREE Patients with BRAF V600E-mutated melanoma respond to FDA-approved BRAF inhibitors. 29271794

2019

dbSNP: rs113488022
rs113488022
0.800 GeneticVariation BEFREE Correlative preclinical studies demonstrated broad activity for E6201 across BRAF V600E mutant melanoma cell lines and effective BBB penetration in vivo. 30264293

2019

dbSNP: rs113488022
rs113488022
0.800 GeneticVariation BEFREE BRAF inhibitors (BRAFi) are used to treat patients with melanoma harboring the V600E mutation. 30482853

2019

dbSNP: rs113488022
rs113488022
0.800 GeneticVariation BEFREE By using genetic material collected noninvasively and to further validate the PLA, somatic hotspot mutations in genes known to be drivers of early melanoma development (BRAF other than V600E, NRAS, and the TERT promoter) can also be identified. 30500343

2019

dbSNP: rs113488022
rs113488022
0.800 GeneticVariation BEFREE Here we assessed the role of urokinase type plasminogen activator receptor (uPAR) as a potentially valuable biomarker in the acquisition of BRAF-I resistance in V600E mutant melanoma cells. 30611716

2019

dbSNP: rs113488022
rs113488022
0.800 GeneticVariation BEFREE Notorious oncogenic BRAF V600E plays a significant role in the signal transduction of the MAPK pathway, which is involved in tumor growth, especially in melanoma. 30630714

2019

dbSNP: rs113488022
rs113488022
0.800 GeneticVariation BEFREE This study thus defined SPRY4 as a potential mediator of synthetic suppression, which is likely to contribute to the observed exclusivity between BRAF(V600E) and NRAS(Q61R) mutations in melanoma. 30651601

2019

dbSNP: rs113488022
rs113488022
0.800 GeneticVariation BEFREE The combination of a BRAF inhibitor dabrafenib and a MEK inhibitor trametinib (CombiDT) has improved outcomes compared with chemotherapy or BRAF inhibitor monotherapy in advanced BRAF V600E/K melanoma. 30661097

2019

dbSNP: rs113488022
rs113488022
0.800 GeneticVariation BEFREE A PDOX nude mouse model of a BRAF V600E-mutant melanoma was established in the chest wall of nude mice and also tested with rMETase in combination with a first-line melanoma drug, temozolomide (TEM). 30725414

2019

dbSNP: rs113488022
rs113488022
0.800 GeneticVariation BEFREE Our results demonstrated that the BRAF V600E mutation is a frequent event in Indian melanomas, and represents an important molecular target for novel therapeutic approaches. 30803557

2019

dbSNP: rs113488022
rs113488022
0.800 GeneticVariation BEFREE BRAF inhibitors (BRAFi) have been applied to treat melanoma harboring V600E mutations. 30829029

2019

dbSNP: rs113488022
rs113488022
0.800 GeneticVariation BEFREE To anticipate possible resistance to ERK inhibitors (ERKi), we used SCH772984 (SCH) as a model ERKi to characterize resistance mechanisms in two BRAF V600E melanoma cell lines. 30833419

2019

dbSNP: rs113488022
rs113488022
0.800 GeneticVariation BEFREE Targeted therapies, based on identification of common oncogenic mutations such as BRAF V600E/K and monoclonal antibody immunotherapies, have transformed the treatment of melanoma. 30868471

2019