Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs113488022
rs113488022
0.100 GeneticVariation BEFREE Clinically, patients with V600K tumors experience distant metastases sooner and have an increased risk of relapse and shorter survival than patients with V600E tumors. 28858076

2017

dbSNP: rs113488022
rs113488022
0.100 GeneticVariation BEFREE BRAF V600E mutation in papillary thyroid carcinoma: significant association with node metastases and extra thyroidal invasion. 22105775

2012

dbSNP: rs113488022
rs113488022
0.100 GeneticVariation BEFREE This is the largest study on the aggressive role of TERT promoter mutations in ATC, demonstrating an association of TERT C228T with BRAF V600E, older patient age, and tumor distant metastasis in ATC. 25584719

2015

dbSNP: rs113488022
rs113488022
0.100 GeneticVariation BEFREE In line with the previous reports, NRAS/BRAF mutations were rare; only one metastatic tumor had an NRAS E61R mutation, and one primary tumor and two metastases harbored BRAF V599E mutations. 16098043

2005

dbSNP: rs113488022
rs113488022
0.100 GeneticVariation BEFREE On univariate analysis, the BRAF(V600E) mutation was associated with extrathyroidal extension (P = .009) and variants of PTC (P = .019), but a high-risk Metastasis, Patient Age, Completeness of resection, local Invasion and Tumor Size (MACIS) score (≥ 6) (P = .146) and lymph node metastasis (P = .628) were not significantly associated with the BRAF(V600E) mutation. 21803329

2012

dbSNP: rs113488022
rs113488022
0.100 GeneticVariation BEFREE dMMR and BRAF V600E mutations were identified in 31 of 208 (14.9%) and 23 of 211 (10.9%) tumors, respectively. dMMR was more commonly found in patients with primary colon tumors rather than rectal cancer (20.4% vs 7.6%, P =0.01), but there was no difference in MMR status between the right-sided and left-sided colon tumors (20.8% vs 34.6%, P = 0.24). dMMR was associated with early-stage rather than metastatic disease (17.3% vs 0%, P = 0.015). 25624727

2015

dbSNP: rs113488022
rs113488022
0.100 GeneticVariation BEFREE The effect of BRAF-I on IFNAR1 expression was assessed in three melanoma cell lines and in four biopsies of BRAF(V600E) metastases. 26851802

2016

dbSNP: rs113488022
rs113488022
0.100 GeneticVariation BEFREE The activating mutation BRAF(V600E) is a frequent genetic event in papillary thyroid carcinomas (PTC) that predicts a poor prognosis, leading to loss of sodium/iodide symporter (NIS) expression and subsequent radioiodide-refractory metastatic disease. 19861538

2009

dbSNP: rs113488022
rs113488022
0.100 GeneticVariation BEFREE In contrast, age- and size-matched classic papillary microcarcinomas (n=26) showed no extrathyroidal extension (p=0.002), lymphovascular invasion in 1, central compartment lymph node metastasis in 2, lateral cervical node metastasis in 1, multifocal tumors in 10 (38.5%), the BRAF(V600E) mutation in 20 (76.9%), and it infrequently presented in stage III/IVA (7.7%, p=0.02). 23682579

2013

dbSNP: rs113488022
rs113488022
0.100 GeneticVariation BEFREE BRAF V600E was associated with advanced TNM (P < 0.001), more distant metastases (P = 0.025), and worse overall survival (OS, P < 0.001; multivariate HR = 4.2, P = 0.004) in colon cancer patients. 25367198

2014

dbSNP: rs113488022
rs113488022
0.100 GeneticVariation BEFREE In malignant FNABs, BRAF(V600E) mutation was significantly associated with presence of extra-thyroidal extension and metastases after surgery. 21948220

2011

dbSNP: rs113488022
rs113488022
0.100 GeneticVariation BEFREE Interestingly, by droplet digital PCR, the V600E mutation was also detected in the first primary, and the V600K in the second primary and metastases. 30222690

2019

dbSNP: rs113488022
rs113488022
0.100 GeneticVariation BEFREE Tumor microenvironment greatly differs between visceral metastasis and primary cutaneous melanoma, and the mechanisms involved in the antimetastatic efficacy of BRAF(V600E) inhibitors remain to be determined. 25351955

2014

dbSNP: rs113488022
rs113488022
0.100 GeneticVariation BEFREE They include BRAF(V600E) and AKT that affect tumor initiation, progression and metastasis. 24362526

2014

dbSNP: rs113488022
rs113488022
0.100 GeneticVariation BEFREE Patients with BRAF(V600E) wild-type primary tumor do not appear to acquire the mutation in their metastases, and BRAF(V600E) is associated with poorer outcomes in metastatic patients. 20635392

2011

dbSNP: rs113488022
rs113488022
0.100 GeneticVariation BEFREE We investigated whether the presence of a BRAF V600E mutation is differentially associated with sites and appearance of metastatic disease in patients matched by primary tumor location. 27956538

2016

dbSNP: rs113488022
rs113488022
0.100 GeneticVariation BEFREE Both the metastasis and the primary thyroid tumor are positive for BRAF(V600E) mutation. 22435913

2012

dbSNP: rs113488022
rs113488022
0.100 GeneticVariation BEFREE BRAF V600E-mutated lung adenocarcinoma with metastases to the brain responding to treatment with vemurafenib. 24888229

2014

dbSNP: rs113488022
rs113488022
0.100 GeneticVariation BEFREE Together, these results suggest that targeting mutant (V600E)B-Raf reduces melanoma cell extravasation by decreasing IL-8 production and interrupting ICAM-1-beta2 integrin binding of melanoma cells to the endothelium mediated by PMNs in the microcirculation, which provides a rationale and mechanistic basis for targeting mutant (V600E)B-Raf to inhibit melanoma extravasation and subsequent metastasis development. 17575149

2007

dbSNP: rs113488022
rs113488022
0.100 GeneticVariation BEFREE However, RAF inhibitors paradoxically accelerate metastasis in RAS-mutant tumors and become ineffective in BRAF(V600E) tumors because of reactivation of downstream mitogen-activated protein kinase (MAPK) signaling. 25097033

2014

dbSNP: rs113488022
rs113488022
0.100 GeneticVariation BEFREE BRAF(V599E) tended to be associated, although not significantly, with a greater volume and extension of the tumour and with lymph-nodal metastases at surgery. 15272920

2004

dbSNP: rs113488022
rs113488022
0.100 GeneticVariation BEFREE Therefore, we established a large collection of patient-derived xenografts (PDXs), derived from BRAF(V600E), NRAS(Q61), or BRAF(WT)/NRAS(WT) melanoma metastases prior to treatment with BRAF inhibitor and after resistance had occurred. 27320919

2016

dbSNP: rs113488022
rs113488022
0.100 GeneticVariation BEFREE The higher incidence of p.V600E mutations in LNs may prompt further studies to elucidate if the p.V600E mutation in primary tumors is associated with a higher risk of LN metastasis. 25456393

2015

dbSNP: rs113488022
rs113488022
0.100 GeneticVariation BEFREE BRAF V600E mutation testing of colorectal tumors demonstrating aberrant MLH1 protein expression by IHC was the most common secondary tumor test, with 53% of laboratories performing the test; 15% of laboratories also applied the BRAF V600E test to endometrial tumors with aberrant MLH1 expression despite no evidence for its utility. 30294856

2018

dbSNP: rs113488022
rs113488022
0.100 GeneticVariation BEFREE Analysis of the metastatic tumor demonstrated clonal expansion of a BRAF V600E subpopulation. 29744614

2018