Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121913377
rs121913377
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis
0.100 GeneticVariation BEFREE In particular, evidence for oncogene-induced melanocyte senescence as natural means to prevent tumorigenesis has been obtained in nevi with mutated B-Raf(V600E). 18806824

2008

dbSNP: rs121913377
rs121913377
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis
0.100 GeneticVariation BEFREE The prevalence (90%) of the BRAF (V600E) mutation in this study is the highest ever reported, confirming the key role of this mutation in PTC tumorigenesis. 23179992

2013

dbSNP: rs121913377
rs121913377
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis
0.100 GeneticVariation BEFREE Therefore, these data indicate that PRDX1 and PRDX6 expression not only may play a key role in papillary thyroid carcinogenesis via a BRAF V600E-dependent mechanism, but their determination could be considered as potential tumor marker for indicating tumor progression in PTCs, independently of BRAF status. 24316730

2014

dbSNP: rs121913377
rs121913377
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis
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
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis
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
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis
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
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis
0.100 GeneticVariation BEFREE These data suggest that the BRAF V600E mutation is not the target gene for abnormal MMR in carcinogenesis in patients with sporadic endometrial cancer, unlike in colon cancer. 19424571

2009

dbSNP: rs121913377
rs121913377
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis
0.100 GeneticVariation BEFREE Aberrant signaling of the Ras-Raf-MEK-ERK (MAP kinase) pathway driven by the mutant kinase BRAF(V600E), as a result of the BRAF(T1799A) mutation, plays a fundamental role in thyroid tumorigenesis. 21185263

2011

dbSNP: rs121913377
rs121913377
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis
0.100 GeneticVariation BEFREE We propose that continuously activated BRAF(V600E) signaling may be a possible mechanism for the deregulation of Mps1 stability and kinase activity in human tumors, and that persistent phosphorylation of Mps1 through BRAF(V600E) signaling is a key event in disrupting the control of centrosome duplication and chromosome stability that may contribute to tumorigenesis. 22430208

2013

dbSNP: rs121913377
rs121913377
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis
0.100 GeneticVariation BEFREE We combined (L597V)Braf with (G12D)Kras and found that (L597V)Braf modified (G12D)Kras oncogenesis such that fibroblast transformation and lung tumor development were more reminiscent of that driven by the high-activity (V600E)Braf mutant. 22892241

2012

dbSNP: rs121913377
rs121913377
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis
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
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis
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
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis
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
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis
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
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis
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
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis
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
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis
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
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis
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
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis
0.100 GeneticVariation BEFREE The coexistence of LCH and ECD in the same biopsy and the BRAF (V600E) mutation status in both histologic types support the recent re-classification of the histiocytic disorder into LCH, ECD, and "mixed histiocytosis", which reflects tumorigenesis for all three from a common progenitor cell. 26466952

2016

dbSNP: rs121913377
rs121913377
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis
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
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis
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
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis
0.100 GeneticVariation BEFREE BRAF(V600E) mutation is an early event in thyroid carcinogenesis, and is associated with distinctive morphology and aggressive features even in papillary thyroid microcarcinomas. 22918165

2013

dbSNP: rs121913377
rs121913377
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis
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
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis
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
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis
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