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 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: 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 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 BRAF-V600E is not involved in the colorectal tumorigenesis of HNPCC in patients with functional MLH1 and MSH2 genes. 15782118

2005

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

2009

dbSNP: rs113488022
rs113488022
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: rs113488022
rs113488022
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis
0.100 GeneticVariation BEFREE The tumorigenic role of BRAF(V600E) in the development of PTC was documented in thyroid-targeted BRAF(V600E) transgenic mice, and rat thyroid cells overexpressed with BRAF(V600E) suggested that BRAF(V600E) is an initiator of tumorigenesis and is required for tumor progression in PTC. 20230995

2010

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