rs113488022, BRAF

N. diseases: 490
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Neoplasms
CUI: C0027651
Disease: Neoplasms
0.800 GeneticVariation BEFREE Tumor cell sensitivity to vemurafenib can be predicted from protein expression in a BRAF-V600E basket trial setting. 31672130 2019
Neoplasms
CUI: C0027651
Disease: Neoplasms
0.800 GeneticVariation BEFREE Univariate analysis indicated that BRAF((V600E)) was associated with greater tumor size (P=0.0048), extra-thyroid invasion (P<0.0001), and cervical lymph nodal metastases (P=0.0001). 18310287 2008
Neoplasms
CUI: C0027651
Disease: Neoplasms
0.800 GeneticVariation BEFREE Strikingly, PRIMA-1(Met) synergised with vemurafenib to induce apoptosis and suppress proliferation of (V600E/K)BRAF melanoma cells in vitro and to inhibit tumour growth in vivo. 26790143 2016
Neoplasms
CUI: C0027651
Disease: Neoplasms
0.800 GeneticVariation BEFREE The biological significance of BRAF V600E oncogenic activation is not well established in this type of tumour. 18098337 2008
Neoplasms
CUI: C0027651
Disease: Neoplasms
0.800 GeneticVariation BEFREE We report a patient with a metastatic relapse of clear cell sarcoma, whose tumor harbored BRAF V600E mutation. 26286452 2015
Neoplasms
CUI: C0027651
Disease: Neoplasms
0.800 GeneticVariation BEFREE Mutated BRAF (BRAF(V600E)) is a potential immunotherapeutic target for melanoma because of its tumor specificity and expression in the majority of these lesions derived from different patients. 16540682 2006
Neoplasms
CUI: C0027651
Disease: Neoplasms
0.800 GeneticVariation BEFREE Growing evidence is accumulating on the benefit of specific therapeutic strategies such as immune checkpoint inhibition therapy in dMMR tumors and mitogen-activated protein kinase (MAPK) pathway targeted therapy in tumors harboring BRAF (V600E) mutation. 26861657 2016
Neoplasms
CUI: C0027651
Disease: Neoplasms
0.800 GeneticVariation BEFREE BRAF mutation (V600E) was analyzed by direct sequencing in MSI-H tumors. 22210186 2012
Neoplasms
CUI: C0027651
Disease: Neoplasms
0.800 GeneticVariation BEFREE BRAF(V600E) mutation does not significantly reflect tumor aggressiveness in Korean patients with conventional PTC. 21862261 2012
Neoplasms
CUI: C0027651
Disease: Neoplasms
0.800 GeneticVariation BEFREE An adverse correlation between BRAF (V600E) mutation and disease-free survival (DFS) was noted in the entire cohort; however, the predictive value of BRAF (V600E) mutation disappeared within the group of tumors displaying classic architecture as well as classic variant PTCs. 26951110 2016
Neoplasms
CUI: C0027651
Disease: Neoplasms
0.800 GeneticVariation BEFREE BRAF(V600E) mutation correlated with multifocality, more aggressive variants, infiltration of the tumoral capsule, and greater tumor's diameter. 24721322 2014
Neoplasms
CUI: C0027651
Disease: Neoplasms
0.800 GeneticVariation BEFREE We assessed phospho-ERK expression in 37 patients with hairy cell leukemia and 44 patients with neoplasms mimicking hairy cell leukemia (40 splenic marginal zone lymphoma, 2 hairy cell leukemia-variant and 2 splenic lymphoma/leukemia unclassifiable) using immunohistochemistry on routine biopsies and/or Western blotting on purified leukemic cells, and correlated the phospho-ERK status with the BRAF-V600E mutation status. 23349307 2013
Neoplasms
CUI: C0027651
Disease: Neoplasms
0.800 GeneticVariation BEFREE We analyzed mutations of BRAF (V600E) and TERT promoter (C228T, C250T) in tumor DNA from 141 patients (75 with classical variant PTC, CVPTC; 66 with follicular variant PTC, FVPTC) recruited through a multi-center study. 31454788 2019
Neoplasms
CUI: C0027651
Disease: Neoplasms
0.800 GeneticVariation BEFREE The BRAF(V600E) mutation was significantly associated with age (≥ 45 years), tumor size (>1 cm), extrathyroidal extension, and cervical lymph node metastases (P < 0.05). 22190222 2012
Neoplasms
CUI: C0027651
Disease: Neoplasms
0.800 GeneticVariation BEFREE However, in oncogene-positive cases (BRAF(V600E) and RET/PTC1), tumors with CNA/UPD were less frequent (5/15, 33%), whereas tumors with CNA/UPD were more frequent in oncogene-negative cases (7/10, 70%), suggesting that chromosomal aberrations may play a role in the development of PTC, especially in oncogene-negative tumors. 22558328 2012
Neoplasms
CUI: C0027651
Disease: Neoplasms
0.800 GeneticVariation BEFREE Here, we have shown that PLX4720 preferentially inhibits migration and invasion of B-Raf(V600E) thyroid cancer cells and tumor aggressiveness. 21355020 2011
Neoplasms
CUI: C0027651
Disease: Neoplasms
0.800 GeneticVariation BEFREE In addition, we identified a subset of BRAF(V600E) tumors that were resistant to the combined treatment, in which FGFR was found to drive feedback-induced RAS activation, independently of SHP2. 30605687 2019
Neoplasms
CUI: C0027651
Disease: Neoplasms
0.800 GeneticVariation BEFREE The (V600E) BRAF mutation was observed in three ATCs; the results about the inhibition of proliferation by CLM29 and CLM24, obtained in ATC from tumors with (V600E) BRAF mutation were similar to those from tumors without BRAF mutation. 26286966 2016
Neoplasms
CUI: C0027651
Disease: Neoplasms
0.800 GeneticVariation BEFREE The evolutional conservation of the BRAF V600E mutation highlights the importance of MAPK pathway activation in neoplasia and may offer opportunity for molecular diagnostics and targeted therapeutics for dogs bearing BRAF-mutated cancers. 26053201 2015
Neoplasms
CUI: C0027651
Disease: Neoplasms
0.800 GeneticVariation BEFREE In all 6 genetically confirmed cases, BRAF V600E mutant protein expression was homogenous throughout the tumor tissue. 22820660 2013
Neoplasms
CUI: C0027651
Disease: Neoplasms
0.800 GeneticVariation BEFREE BRAF V600E and SRC mutations were mutually exclusive, and SRC mutation was significantly associated with left-sided tumor and liver metastasis compared to BRAF V600E mutation (P = 0.016 and P = 0.025, respectively). 30792536 2019
Neoplasms
CUI: C0027651
Disease: Neoplasms
0.800 GeneticVariation BEFREE Vemurafenib and dabrafenib block MEK-ERK1/2 signaling and cause tumor regression in the majority of advanced-stage BRAF(V600E) melanoma patients; however, acquired resistance and paradoxical signaling have driven efforts for more potent and selective RAF inhibitors. 24422853 2014
Neoplasms
CUI: C0027651
Disease: Neoplasms
0.800 GeneticVariation BEFREE Effect of MTH1 inhibition on tumour growth was explored in BRAF V600E-mutated malignant melanoma patient derived xenograft and human colon cancer SW480 and HCT116 xenograft models. 27827301 2016
Neoplasms
CUI: C0027651
Disease: Neoplasms
0.800 GeneticVariation BEFREE Because BRAF(V600E) mutant may be responsible for cetuximab resistance in KRAS wild-type cells, we measured the growth of xenograft tumors originating from KRAS mutant and BRAF mutant cells in mice treated with cetuximab alone or plus simvastatin (n = 5 mice per treatment group). 21398618 2011
Neoplasms
CUI: C0027651
Disease: Neoplasms
0.800 GeneticVariation BEFREE All patients with lateral cervical node metastasis (n=9), and all but one tumor with extrathyroidal extension (n=17/18) showed BRAF(V600E) mutation. 22918165 2013