Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs113488022
rs113488022
0.800 GeneticVariation BEFREE We observed mutations resulting in the V599E amino-acid substitution in 41 of 60 (68%) melanoma metastases, 4 of 5 (80%) primary melanomas and, unexpectedly, in 63 of 77 (82%) nevi. 12447372

2003

dbSNP: rs113488022
rs113488022
0.800 GeneticVariation BEFREE However, in this study, we document that blocking the Ras-Raf-Mek-Erk MAPK pathway, either with an ERK (PLX4032) or a MEK (U1026) signaling inhibitor, in BRAF(V600E) human and murine melanoma cell lines increases collagen synthesis in vitro and collagen deposition in vivo. 25989506

2015

dbSNP: rs113488022
rs113488022
0.800 GeneticVariation BEFREE Melanoma treatment with the BRAF V600E inhibitor vemurafenib provides therapeutic benefits but the common emergence of drug resistance remains a challenge. 30010109

2018

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 Tumour engraftment permits dynamic imaging of neovascularization, niche partitioning of tumour-propagating cells in embryonal rhabdomyosarcoma, emergence of clonal dominance in T-cell acute lymphoblastic leukaemia and tumour evolution resulting in elevated growth and metastasis in BRAF(V600E)-driven melanoma. 26790525

2016

dbSNP: rs113488022
rs113488022
0.800 GeneticVariation BEFREE The most common mutation in CM was V599E, but a novel point mutation (L596Q) was identified in two cases and an in-frame deletion/insertion (VKSRWK599-604D) was discovered in one case. 14522897

2003

dbSNP: rs113488022
rs113488022
0.800 GeneticVariation BEFREE Several transcription factors and signaling pathways involved in the regulation of MITF expression and/or activity such as the Wnt/β-catenin pathway are broadly utilized by various types of tumors, whereas others, e.g., BRAF(V600E)/ERK1/2 are more specific for melanoma. 25433395

2015

dbSNP: rs113488022
rs113488022
0.800 GeneticVariation BEFREE These data reveal a mechanism by which BRAF(V600E) and PI3K signaling cooperate to regulate melanoma proliferation through AKT-independent effects on protein translation. 24425783

2014

dbSNP: rs113488022
rs113488022
0.800 GeneticVariation BEFREE Primary pineal malignant melanoma with B-Raf V600E mutation: a case report and brief review of the literature. 25976339

2015

dbSNP: rs113488022
rs113488022
0.800 GeneticVariation BEFREE In the present study, fibroblasts were isolated from a patient suffering from acrolentiginous melanoma (Breslow, 4.0 mm; Clark, IV; B‑Raf V600E mutated). 29393387

2018

dbSNP: rs113488022
rs113488022
0.800 GeneticVariation BEFREE To enhance potential disease relevance by verifying expression of altered genes in BRAF-driven cancer tissue, parallel RNA-seq was also undertaken of two BRAF(V600E)-mutant human melanomas. 22581800

2012

dbSNP: rs113488022
rs113488022
0.800 GeneticVariation BEFREE Thus, cationic nanoliposomes loaded with siRNA targeting (V600E)B-Raf and Akt3 provide an effective approach for targeted inhibition of early or invasive cutaneous melanomas. 18794153

2008

dbSNP: rs113488022
rs113488022
0.800 GeneticVariation BEFREE AEBP1 upregulation confers acquired resistance to BRAF (V600E) inhibition in melanoma. 24201813

2013

dbSNP: rs113488022
rs113488022
0.800 GeneticVariation BEFREE We collected CSF from patients with BRAF V600E or K-mutated melanoma (N=8) or BRAF V600E mutated Erdheim-Chester Disease (ECD) (N=3) with suspected central nervous system (CNS) involvement on the basis of neurological symptoms (10/11), MRI imaging (8/11), or both. 27863426

2016

dbSNP: rs113488022
rs113488022
0.800 GeneticVariation BEFREE A novel RFLP-ARMS TaqMan PCR-based method for detecting the BRAF V600E mutation in melanoma. 30008844

2018

dbSNP: rs113488022
rs113488022
0.800 GeneticVariation BEFREE Expression of aberrantly spliced BRAF V600E isoforms (BRAF V600E ΔEx) mediates resistance in 13%-30% of melanoma patients progressing on RAF inhibitors. 30404005

2018

dbSNP: rs113488022
rs113488022
0.800 GeneticVariation BEFREE Frequent somatic mutations of BRAF (v-raf murine sarcoma viral oncogene homolog B) exon T1799A, which are implicated in the initial events of promutagenic cellular proliferation, are detected in both malignant melanomas (MM) and melanocytic nevi (MN). 21326296

2011

dbSNP: rs113488022
rs113488022
0.800 GeneticVariation BEFREE Dabrafenib has activity and an acceptable safety profile in patients with Val600Glu BRAF-mutant melanoma and brain metastases irrespective of whether they are untreated or have been previously treated but have progressed. 23051966

2012

dbSNP: rs113488022
rs113488022
0.800 GeneticVariation BEFREE To our knowledge, our data unveil a previously unknown role for the autocrine-regulated CSF-1R in BRAF V600E resistance and provide a preclinical rationale for targeting this pathway in melanoma. 30046005

2018

dbSNP: rs113488022
rs113488022
0.800 GeneticVariation BEFREE The detection of the BRAF V600E mutation in melanoma samples is used to select patients who should respond to BRAF inhibitors. 25952101

2015

dbSNP: rs113488022
rs113488022
0.800 GeneticVariation BEFREE The most prevalent BRAF mutation, V600E, occurs frequently in melanoma and other cancers. 31152574

2019

dbSNP: rs113488022
rs113488022
0.800 GeneticVariation BEFREE Dabrafenib has demonstrated comparable efficacy to vemurafenib in BRAF V600E mutant melanoma patients. 25014231

2014

dbSNP: rs113488022
rs113488022
0.800 GeneticVariation BEFREE Vemurafenib produced improved rates of overall and progression-free survival in patients with previously untreated melanoma with the BRAF V600E mutation. 21639808

2011

dbSNP: rs113488022
rs113488022
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
0.800 GeneticVariation BEFREE The BRAF(T1799A) mutation was found in 112 (45%) of the primary melanomas. 17159915

2007