rs113488022, BRAF

N. diseases: 490
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Carcinogenesis
CUI: C0596263
Disease: 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
Carcinogenesis
CUI: C0596263
Disease: 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
Carcinogenesis
CUI: C0596263
Disease: 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
Carcinogenesis
CUI: C0596263
Disease: 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
Carcinogenesis
CUI: C0596263
Disease: 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
Carcinogenesis
CUI: C0596263
Disease: 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
Carcinogenesis
CUI: C0596263
Disease: 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
Carcinogenesis
CUI: C0596263
Disease: 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
Carcinogenesis
CUI: C0596263
Disease: 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
Carcinogenesis
CUI: C0596263
Disease: 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
Carcinogenesis
CUI: C0596263
Disease: 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
Carcinogenesis
CUI: C0596263
Disease: 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
Carcinogenesis
CUI: C0596263
Disease: 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
Carcinogenesis
CUI: C0596263
Disease: Carcinogenesis
0.100 GeneticVariation BEFREE The proliferation and tumorigenesis in V600E melanoma were decrease after CPT1A knockdown. 27793752 2016
Carcinogenesis
CUI: C0596263
Disease: 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
Carcinogenesis
CUI: C0596263
Disease: 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
Carcinogenesis
CUI: C0596263
Disease: 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
Carcinogenesis
CUI: C0596263
Disease: 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
Carcinogenesis
CUI: C0596263
Disease: 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
Carcinogenesis
CUI: C0596263
Disease: 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
Carcinogenesis
CUI: C0596263
Disease: 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
Carcinogenesis
CUI: C0596263
Disease: 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
Carcinogenesis
CUI: C0596263
Disease: 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
Carcinogenesis
CUI: C0596263
Disease: 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
Carcinogenesis
CUI: C0596263
Disease: 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