Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs113488022
rs113488022
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: rs113488022
rs113488022
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: rs113488022
rs113488022
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: rs113488022
rs113488022
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: rs113488022
rs113488022
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: rs113488022
rs113488022
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis
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: rs113488022
rs113488022
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: rs113488022
rs113488022
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis
0.100 GeneticVariation BEFREE The presence of BRAF V600E and mitogen-activated protein kinase activation in a largely benign tumor supports the necessity for secondary events (e.g., p16 loss) in BRAF-driven oncogenesis. 22727996

2012

dbSNP: rs113488022
rs113488022
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis
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

dbSNP: rs113488022
rs113488022
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis
0.100 GeneticVariation BEFREE We have thus uncovered a previously unrecognized prominent epigenetic mechanism in the tumorigenesis of melanoma driven by BRAF(V600E). 22189819

2012

dbSNP: rs113488022
rs113488022
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: rs113488022
rs113488022
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: rs113488022
rs113488022
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: rs113488022
rs113488022
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: rs113488022
rs113488022
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: rs113488022
rs113488022
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis
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: rs113488022
rs113488022
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: rs113488022
rs113488022
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: rs113488022
rs113488022
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: rs113488022
rs113488022
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

dbSNP: rs113488022
rs113488022
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: rs113488022
rs113488022
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis
0.100 GeneticVariation BEFREE To understand how oncogenic B-Raf contributes to carcinogenesis, in particular to aspects other than cellular proliferation and survival, we generated three isogenic human colorectal carcinoma cell line models in which we can dynamically modulate the expression of the B-Raf(V600E) oncoprotein. 25381152

2015

dbSNP: rs113488022
rs113488022
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: rs113488022
rs113488022
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis
0.100 GeneticVariation BEFREE Targeted reduction of mutant (V599E)B-Raf expression (activity) in melanoma cells before tumor formation inhibited tumorigenesis by reducing the growth potential of melanoma cells. 15781657

2005

dbSNP: rs113488022
rs113488022
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis
0.100 GeneticVariation BEFREE Conclusions.-The T1799A BRAF mutation does not appear to play a role in the tumorigenesis of CMVPTC. 19415957

2009