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 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: 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 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 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 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 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 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 Further analyses suggested a complex mechanism driven by mutation BRAF (V600E) on melanoma tumorigenesis that disturbs specific cancer-related genes, pathways, and methylation modifications. 25890285

2015

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 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 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 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: 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 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 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: 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 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 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 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 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: 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 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 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: 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