Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121913377
rs121913377
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis
0.100 GeneticVariation BEFREE Extended BRAF testing using PCR for 9 mutations and VE1 immunohistochemistry for BRAF V600E detection on 95 lesions including 40 primary melanomas with their matched metastases (n = 42), recurrences (n = 9) and second primaries (n = 4) was performed.Nine patients had multiple metastases. 25236573

2014

dbSNP: rs121913377
rs121913377
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis
0.100 GeneticVariation BEFREE In conclusion, there is no prognostic value of BRAF V600E mutation on overall survival in stage I-III melanoma patients, yet its presence might indicate a decreased risk for development of relapse and/or metastasis in stage III melanoma patients. 31058533

2019

dbSNP: rs121913377
rs121913377
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis
0.100 GeneticVariation BEFREE There was no significant correlation with BRAF (V600E) mutation and age, gender, tumor size, ETE, central lymph node metastasis, the status of pT, pN1a-b, and distant metastasis. 26951110

2016

dbSNP: rs121913377
rs121913377
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis
0.100 GeneticVariation BEFREE BRAF V600E mutation and BRAF kinase inhibitors in conjunction with stereotactic radiosurgery for intracranial melanoma metastases. 27203149

2017

dbSNP: rs121913377
rs121913377
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis
0.100 GeneticVariation BEFREE BRAF(V600E) was characterized in 113 PTC patients diagnosed with pT1aNo-x (one PTC focus with a diameter <1 cm, without lymph node or distant metastases according to IUCC/AJCC TNM staging system 2010). 24354346

2014

dbSNP: rs121913377
rs121913377
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis
0.100 GeneticVariation BEFREE On PTC univariate analysis, EGFR-H correlated with increasing stage, extrathyroid extension, tumor capsule invasion, adverse pathologic features (any demonstration of extrathyroid extension, tumor capsule invasion, lymphovascular invasion, lymph node metastasis, and/or distant metastasis), and BRAF(V600E) mutations. 23746767

2013

dbSNP: rs121913377
rs121913377
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis
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: rs121913377
rs121913377
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis
0.100 GeneticVariation BEFREE NRAS mutant/BRAF wild type metastatic deposits were identified in three patients, with one patient having a BRAF V600E mutant metastatic tumour. 31023480

2019

dbSNP: rs121913377
rs121913377
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis
0.100 GeneticVariation BEFREE Unexpectedly, V599 and V599E mutations were absent in cutaneous/subcutaneous metastases derived from acrolentiginous melanomas as preceding primary tumours. 15935100

2005

dbSNP: rs121913377
rs121913377
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis
0.100 GeneticVariation BEFREE They include BRAF(V600E) and AKT that affect tumor initiation, progression and metastasis. 24362526

2014

dbSNP: rs121913377
rs121913377
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis
0.100 GeneticVariation BEFREE After controlling for the effect of MS status, there was no correlation of RNF43 frameshift mutation with distant metastasis (OR = 1.57 [0.75, 3.28]) and advanced TNM stages (OR = 0.98 [0.58, 1.67]), but RNF43 frameshift mutations still occur more frequently in right colon (OR = 2.58 [1.49, 4.47]) and with BRAF V600E mutation (OR = 1.94 [1.22, 3.10]). 31122752

2019

dbSNP: rs121913377
rs121913377
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis
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: rs121913377
rs121913377
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis
0.100 GeneticVariation BEFREE We therefore analyzed the correlation of BRAF V600E and ERK-activation in 20 malignant melanomas and 21 subsequently evolved, paired metastases of the same donor by BRAF exon 15 DNA sequencing and phospho-specific immunohistochemistry for ERK. 20605766

2010

dbSNP: rs121913377
rs121913377
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis
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: rs121913377
rs121913377
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis
0.100 GeneticVariation BEFREE All four patients with distant metastasis had BRAF(V600E) mutation. 22767446

2012

dbSNP: rs121913377
rs121913377
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis
0.100 GeneticVariation BEFREE We also studied the role of BRAF V600E mutation in a set of melanoma patients who had been investigated for sentinel node metastasis. 25442222

2015

dbSNP: rs121913377
rs121913377
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis
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: rs121913377
rs121913377
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis
0.100 GeneticVariation BEFREE However, there was no significant association between BRAF(V600E) mutation and factors including age > 45 (OR = 0.98; 95%CI = 0.89-1.07), tumor size (OR = 0.84; 95%CI = 0.64-1.09) and distant metastasis (OR = 1.23; 95%CI = 0.67-2.27). 26871894

2016

dbSNP: rs121913377
rs121913377
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis
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: rs121913377
rs121913377
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis
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: rs121913377
rs121913377
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis
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: rs121913377
rs121913377
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis
0.100 GeneticVariation BEFREE Patients with PTC harboring the BRAF(V600E) mutation seem to display a more aggressive clinical behavior, but little is known about the role of this mutation in crucial processes in the tumor microenvironment, such as tumor adhesion, migration, invasion, and metastasis. 21447745

2011

dbSNP: rs121913377
rs121913377
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis
0.100 GeneticVariation BEFREE This study correlates histological features, immunoreactivity for CK19, HBME, and Gal, and BRAF V600E mutation with lymph node (LN) metastasis and follow-up in FVPTC. 25702102

2015

dbSNP: rs121913377
rs121913377
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis
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: rs121913377
rs121913377
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis
0.100 GeneticVariation BEFREE In patients with conventional papillary thyroid cancer, BRAF V600E mutation was associated with older age (P = 0.0381), lymph node metastasis (P = 0.0323), distant metastasis (P = 0.045), higher TNM stage (I and II vs. III and IV, P = 0.0389), and recurrent and persistent disease (P = 0.009) with a median follow-up time of 6.0 years. 17717450

2007