Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs113488022
rs113488022
CUI: C0025202
Disease: melanoma
melanoma
0.800 GeneticVariation BEFREE First-generation BRAF inhibitors (BRAFi) have shown effectiveness in the treatment of melanoma patients with brain metastases and are currently undergoing clinical trials for the treatment of pediatric primary brain tumors with the BRAF-V600E mutation. 30265855

2018

dbSNP: rs113488022
rs113488022
CUI: C0025202
Disease: melanoma
melanoma
0.800 GeneticVariation BEFREE We present a case of a woman with BRAF V600E-mutated malignant melanoma and rapidly progressing liver, bone, and lymph node metastases. 29215399

2018

dbSNP: rs113488022
rs113488022
CUI: C0025202
Disease: melanoma
melanoma
0.800 GeneticVariation BEFREE In the present study, we evaluated the efficacy of the combination of S. typhimurium A1-R with orally-administered rMETase (o-rMETase) for BRAF-V600E-negative melanoma in a PDOX model. 30166061

2018

dbSNP: rs113488022
rs113488022
CUI: C0025202
Disease: melanoma
melanoma
0.800 GeneticVariation BEFREE The present study shows that TEM combined with rMETase is effective for BRAF-V600E-negative melanoma PDOX similar to the BRAF-V600E-positive mutation melanoma</span>. 29416666

2018

dbSNP: rs113488022
rs113488022
CUI: C0025202
Disease: melanoma
melanoma
0.800 GeneticVariation BEFREE Melanomas harboring BRAF mutation (V600E) are known to recur frequently following treatment with BRAF inhibitors (BRAFi) despite a high initial response rate. 29094484

2017

dbSNP: rs113488022
rs113488022
CUI: C0025202
Disease: melanoma
melanoma
0.800 GeneticVariation BEFREE Salmonella typhimurium A1-R targeting of a chemotherapy-resistant BRAF-V600E melanoma in a patient-derived orthotopic xenograft (PDOX) model is enhanced in combination with either vemurafenib or temozolomide. 28622068

2017

dbSNP: rs113488022
rs113488022
CUI: C0025202
Disease: melanoma
melanoma
0.800 GeneticVariation BEFREE Verteporfin is highly effective as concentrations of verteporfin that do not impact tumor formation restore BRAF inhibitor suppression of tumor formation, suggesting that co-treatment with agents that inhibit YAP1 and BRAF(V600E) may be a viable therapy for cancer stem cell-derived BRAF inhibitor-resistant melanoma. 29299145

2017

dbSNP: rs113488022
rs113488022
CUI: C0025202
Disease: melanoma
melanoma
0.800 GeneticVariation BEFREE BRAF inhibitor (BRAFi) therapy for melanoma patients harboring the V600E mutation is initially highly effective, but almost all patients relapse within a few months. 27748762

2017

dbSNP: rs113488022
rs113488022
CUI: C0025202
Disease: melanoma
melanoma
0.800 GeneticVariation BEFREE To unravel BRAFi resistance mechanisms we have performed gene expression and mass spectrometry based proteome profiling of the sensitive parental A375 BRAF V600E-mutated human melanoma cell line and of daughter cell lines with induced BRAFi resistance. 29048432

2017

dbSNP: rs113488022
rs113488022
CUI: C0025202
Disease: melanoma
melanoma
0.800 GeneticVariation BEFREE Eligible patients with stage IIIC or IV melanoma and non-V600E BRAF mutations received vemurafenib (960 mg, twice daily). 29076950

2017

dbSNP: rs113488022
rs113488022
CUI: C0025202
Disease: melanoma
melanoma
0.800 GeneticVariation BEFREE Putative genomic characteristics of BRAF V600K versus V600E cutaneous melanoma. 28858076

2017

dbSNP: rs113488022
rs113488022
CUI: C0025202
Disease: melanoma
melanoma
0.800 GeneticVariation BEFREE This has led to the development of the combination of dabrafenib and trametinib or vemurafenib and cobimetanib for the treatment of BRAF V600E mutant melanomas. 27956260

2017

dbSNP: rs113488022
rs113488022
CUI: C0025202
Disease: melanoma
melanoma
0.800 GeneticVariation BEFREE The present study used a previously-established patient-derived orthotopic xenograft (PDOX) nude mouse model of BRAF V600E-mutant melanoma to determine the efficacy of rMETase in combination with a first-line melanoma drug, temozolomide (TEM). 29156737

2017

dbSNP: rs113488022
rs113488022
CUI: C0025202
Disease: melanoma
melanoma
0.800 GeneticVariation BEFREE Clinical significance of BRAF V600E mutational status in capsular nevi of sentinel lymph nodes in patients with primary cutaneous melanoma. 27666765

2017

dbSNP: rs113488022
rs113488022
CUI: C0025202
Disease: melanoma
melanoma
0.800 GeneticVariation BEFREE In order to minimize the toxicity of cancer drugs to immune cells and other healthy cells, an anti-BRAF V600E mutant melanoma specific drug (PLX4032) is loaded into BPLP-PLA nanoparticles. 28026115

2017

dbSNP: rs113488022
rs113488022
CUI: C0025202
Disease: melanoma
melanoma
0.800 GeneticVariation BEFREE Thus, 32 melanomas were assessed regarding their BRAF V600E mutational status. 28662062

2017

dbSNP: rs113488022
rs113488022
CUI: C0025202
Disease: melanoma
melanoma
0.800 GeneticVariation BEFREE MC1R's associations with BRAF V600E cases limited to individuals with darker phenotypes indicate that MC1R genotypes specifically provide information about BRAF V600E melanoma risk in those not considered high risk based on phenotype. 28842324

2017

dbSNP: rs113488022
rs113488022
CUI: C0025202
Disease: melanoma
melanoma
0.800 GeneticVariation BEFREE We demonstrate the use of INDRA and natural language to model three biological processes of increasing scope: (i) p53 dynamics in response to DNA damage, (ii) adaptive drug resistance in BRAF-V600E-mutant melanomas, and (iii) the RAS signaling pathway. 29175850

2017

dbSNP: rs113488022
rs113488022
CUI: C0025202
Disease: melanoma
melanoma
0.800 GeneticVariation BEFREE BRAF mutations, especially BRAF V600E, are a frequent occurrence in malignant melanomas. 28645859

2017

dbSNP: rs113488022
rs113488022
CUI: C0025202
Disease: melanoma
melanoma
0.800 GeneticVariation BEFREE We also previously demonstrated that tumor-targeting with S. typhimurium A1-R combined with TEM was significantly more effective than either S. typhimurium A1-R alone or TEM alone on the melanoma PDOX with the BRAF-V600E mutation. 28106277

2017

dbSNP: rs113488022
rs113488022
CUI: C0025202
Disease: melanoma
melanoma
0.800 GeneticVariation BEFREE Given the diagnosis of MM after surgery, the tumor was tested for the mutation in the BRAF gene (which encodes the serine/threonine-protein kinase B-raf) that leads to a V600E amino acid substitution, and the tumor was found to be wild type. 28445254

2017

dbSNP: rs113488022
rs113488022
CUI: C0025202
Disease: melanoma
melanoma
0.800 GeneticVariation BEFREE Dabrafenib plus trametinib versus dabrafenib monotherapy in patients with metastatic BRAF V600E/K-mutant melanoma: long-term survival and safety analysis of a phase 3 study. 28475671

2017

dbSNP: rs113488022
rs113488022
CUI: C0025202
Disease: melanoma
melanoma
0.800 GeneticVariation BEFREE Vemurafenib induces autophagic cell death rather than adaptive cell survival in BRAF V600E-mutant melanoma. 27928645

2017

dbSNP: rs113488022
rs113488022
CUI: C0025202
Disease: melanoma
melanoma
0.800 GeneticVariation BEFREE The significance of BRAF V600E mutation status discordance between primary cutaneous melanoma and brain metastases: The implications for BRAF inhibitor therapy. 29310328

2017

dbSNP: rs113488022
rs113488022
CUI: C0025202
Disease: melanoma
melanoma
0.800 GeneticVariation BEFREE Consistent with this prediction, combinations of I3C and Vemurafenib more potently inhibited melanoma cell proliferation and reduced MITF-M levels in BRAF-V600E expressing melanoma cells compared to the effects of each compound alone. 26878440

2017