Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121913377
rs121913377
0.100 GeneticVariation BEFREE Mutation in the B RAF at V600E has been well implicated in the carcinogenesis that makes it as an attractive therapeutictarget. 28472910

2017

dbSNP: rs121913377
rs121913377
0.100 GeneticVariation BEFREE The B-Raf(V600E) mutant, found in 65% of human melanomas, drives constitutive activation of the extracellular signal-regulated kinase (ERK) pathway and is implicated in tumorigenesis. 18071315

2008

dbSNP: rs121913377
rs121913377
0.100 GeneticVariation BEFREE Here we report that BRAF(V600E) expression in neural progenitors (NPs) is insufficient for tumorigenesis and increases NP cellular differentiation as well as apoptosis. 22586120

2012

dbSNP: rs121913377
rs121913377
0.100 GeneticVariation BEFREE A large number of studies in the past decade have tried to dissect the relevance and the function of the V600E mutation in controlling oncogenesis and progression of thyroid cancer. 24828987

2015

dbSNP: rs121913377
rs121913377
0.100 GeneticVariation BEFREE Here we show decreasing the levels of CTR1 (Cu transporter 1), or mutations in MEK1 that disrupt Cu binding, decreased BRAF(V600E)-driven signalling and tumorigenesis in mice and human cell settings. 24717435

2014

dbSNP: rs121913377
rs121913377
0.100 GeneticVariation BEFREE To determine the occurrence of BRAF V600E gene mutations and copy number changes of all autosome arms and genes known to be frequently altered in tumorigenesis in primary and metastatic conjunctival melanomas (CoMs). 21693616

2011

dbSNP: rs121913377
rs121913377
0.100 GeneticVariation BEFREE While the role of BRAF(V600E) in tumorigenesis is well established, its involvement in metastasis that is clinically observed in melanoma patients remains a topic of debate. 27210749

2016

dbSNP: rs121913377
rs121913377
0.100 GeneticVariation BEFREE The increased incidence of cancer in FDRs of index CRC patients with the p.V600E BRAF mutation may be explained by a genetic predisposition to develop cancer through the serrated pathway of colorectal carcinogenesis. 20570909

2010

dbSNP: rs121913377
rs121913377
0.100 GeneticVariation BEFREE Interesting, Prof. Peng Hou and colleagues, at the First Affiliated Hospital of Xi'an Jiaotong University in China, identified unknown epigenetic mechanisms and their involvement in the tumorigenesis of B-RAF(V600E)-driven cancer. 28638488

2017

dbSNP: rs121913377
rs121913377
0.100 GeneticVariation BEFREE In contrast to other Braf-induced mouse models of tumorigenesis (i.e., melanomas and lung), in which knock-in of Braf(V600E) induces mostly benign lesions, Braf-expressing thyrocytes become transformed and progress to invasive carcinomas with a very short latency, a process that is dampened by treatment with an allosteric MEK inhibitor. 21220306

2011

dbSNP: rs121913377
rs121913377
0.100 GeneticVariation BEFREE These results suggest that the B-Raf activation segment mutations other than V599E reported in colorectal tumors do not necessarily contribute to carcinogenesis by increasing kinase and transforming activities. 14678966

2003

dbSNP: rs121913377
rs121913377
0.100 GeneticVariation BEFREE Here, we report that Mps1/AKT and B-Raf(WT)/ERK signaling form an auto-regulatory negative feedback loop in melanoma cells; notably, oncogenic B-Raf(V600E) abrogates the negative feedback loop, contributing the aberrant Mps1 functions and tumorigenesis. 23726842

2013

dbSNP: rs121913377
rs121913377
0.100 GeneticVariation BEFREE Distribution of BRAF T1799A(V600E) mutations across various types of benign nevi: implications for melanocytic tumorigenesis. 18032947

2007

dbSNP: rs121913377
rs121913377
0.100 GeneticVariation BEFREE Our findings provide a molecular linkage between the LKB1-AMPK and the RAF-MEK-ERK pathways and suggest that suppression of LKB1 function by B-RAF V600E plays an important role in B-RAF V600E-driven tumorigenesis. 19187764

2009

dbSNP: rs121913377
rs121913377
0.100 GeneticVariation BEFREE Recently, an alternative pathway of tumorigenesis has been identified in the colorectum associated with serrated precursor lesions, variable levels of microsatellite instability (MSI-V), and driven in part by activating mutations in the BRAF proto-oncogene (V599E). 15765445

2005

dbSNP: rs121913377
rs121913377
0.100 GeneticVariation BEFREE The data suggest that coexpression of BRAF(V600E) and KRAS(G12D) in early tumorigenesis leads to negative selection due to oncogene-induced senescence. 26028035

2016

dbSNP: rs121913377
rs121913377
0.100 GeneticVariation BEFREE Specifically, both the initial and recurrent tumors of the patient showed the same BRAF V600E mutation, which refutes previous suggestions that BRAF mutations may be limited to intracranial PXAs and also shows that BRAF mutations may occur earlier in PXA tumorigenesis. 27956254

2017

dbSNP: rs121913377
rs121913377
0.100 GeneticVariation BEFREE Thus, this study uncovered a prominent epigenetic mechanism through which BRAF V600E can promote PTC tumorigenesis by altering the methylation and hence the expression of numerous important genes. 21937738

2011

dbSNP: rs121913377
rs121913377
0.100 GeneticVariation BEFREE This is the first report of BRAF V600E mutation in endometrial cancer, indicating that it may contribute to tumorigenesis of endometrial cancer, although at a low frequency compared with KRAS mutations. 23370429

2013

dbSNP: rs121913377
rs121913377
0.100 GeneticVariation BEFREE The high frequency of methylation and BRAF V600E mutation suggests that many signet ring cell carcinomas may be related to the serrated pathway of carcinogenesis. 22522845

2012

dbSNP: rs121913377
rs121913377
0.100 GeneticVariation BEFREE Here, we studied the expression and function of the exportin cellular apoptosis susceptibility (CAS) in thyroid carcinogenesis and its link to the BRAF(V600E) mutation. 26892809

2016

dbSNP: rs121913377
rs121913377
0.100 GeneticVariation BEFREE According to the literature, our data provide evidence of the BRAF and RAS roles in thyroid tumorigenesis, supporting an association between BRAF (V600E) mutations and the more aggressive clinical and pathological features of thyroid tumors. 29435002

2018

dbSNP: rs121913377
rs121913377
0.100 GeneticVariation BEFREE The paradoxically higher incidence of BRAF(V600E) mutations in medium-sized compared with giant CMNs suggests that the presence of the BRAF(V600E) mutation may play different roles between medium and giant CMNs in melanocytic tumorigenesis. 21430505

2011

dbSNP: rs121913377
rs121913377
0.100 GeneticVariation BEFREE The hot spot c. 1799 T>A, p.V600E gene mutation is very rarely involved in the tumorigenesis of CRC linked to Hereditary Nonpolyposis Colorectal Cancer (HNPCC). 17566669

2007

dbSNP: rs121913377
rs121913377
0.100 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