Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs113488022
rs113488022
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis
0.100 GeneticVariation BEFREE Associations between BRAF V600E and TERT promoter mutations and clinicopathological features, Tumor-Node-Metastasis stage, initial risk, response to therapy, follow-up, and final disease outcome were assessed according to American Thyroid Association 2015 criteria and the American Joint Committee on Cancer/Tumor-Node-Metastasis (8th edition) staging system.Median follow-up was 120 months. 31305897

2019

dbSNP: rs113488022
rs113488022
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: rs113488022
rs113488022
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: rs113488022
rs113488022
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: rs113488022
rs113488022
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis
0.100 GeneticVariation BEFREE One case in a 6-year-old male was morphologically similar to the BRAF V600E mutation-positive adult cases and subsequently metastasized to the lungs; remarkably, the metastases then completely resolved on Braf targeted therapy. 31192863

2019

dbSNP: rs113488022
rs113488022
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: rs113488022
rs113488022
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis
0.100 GeneticVariation BEFREE We successfully treated a BRAF V600E-mutated anaplastic oligoastrocytoma with multiple extraneural metastases with vemurafenib and everolimus. 30462564

2019

dbSNP: rs113488022
rs113488022
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis
0.100 GeneticVariation BEFREE Analysis of the metastatic tumor demonstrated clonal expansion of a BRAF V600E subpopulation. 29744614

2018

dbSNP: rs113488022
rs113488022
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis
0.100 GeneticVariation BEFREE Concordance in BRAF V600E status over time in malignant melanoma and corresponding metastases. 29119584

2018

dbSNP: rs113488022
rs113488022
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis
0.100 GeneticVariation BEFREE This metastasis was found to have BRAF V600E mutation. 29405341

2018

dbSNP: rs113488022
rs113488022
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: rs113488022
rs113488022
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis
0.100 GeneticVariation BEFREE BRAF V600E mutations were commonly identified in right-sided tumors and showed a high incidence of peritoneal and distant lymph nodes metastases. 29037218

2017

dbSNP: rs113488022
rs113488022
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: rs113488022
rs113488022
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis
0.100 GeneticVariation BEFREE The combinatorial treatment of PLX4032 and PHA665752, a c-Met inhibitor reversed EMT.Similar results were confirmed in vivo. c-Met-mediated reactivation of the PI3K/AKT pathway contributes to the drug resistance to PLX4032 in BRAF (V600E) mutant anaplastic thyroid cancer cells and further promotes tumor cell migration and invasion by upregulated EMT mechanism. 27880942

2017

dbSNP: rs113488022
rs113488022
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis
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
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis
0.100 GeneticVariation BEFREE Overall median survival time (MST), stratified for variables, including BRAF V600E mutation and eligibility for treatments with new immunotherapy drugs, was retrospectively assessed in 41 patients with pelvic melanoma loco regional metastases. 29120401

2017

dbSNP: rs113488022
rs113488022
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: rs113488022
rs113488022
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis
0.100 GeneticVariation BEFREE Interestingly, cells carrying the BRAF(V600E) mutation were not only found among cells surrounding the primary tumor but were also present in the stroma of melanoma metastases as well as in a histologically tumor-free re-excision sample from a patient who subsequently developed a local recurrence. 27338362

2016

dbSNP: rs113488022
rs113488022
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis
0.100 GeneticVariation BEFREE The TERT promoter mutation is an independent predictor for distant metastasis of WDTC, but ALK testing is not useful for clinical decision-making in Korean patients with a high prevalence of the BRAF V600E mutation. 26857243

2016

dbSNP: rs113488022
rs113488022
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis
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
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis
0.100 GeneticVariation BEFREE Our results provide support for the role of BRAF(V600E) in metastasis and suggest that inhibiting invasion is a potential therapeutic strategy against melanoma. 27210749

2016

dbSNP: rs113488022
rs113488022
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: rs113488022
rs113488022
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis
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
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis
0.100 GeneticVariation BEFREE Tumour engraftment permits dynamic imaging of neovascularization, niche partitioning of tumour-propagating cells in embryonal rhabdomyosarcoma, emergence of clonal dominance in T-cell acute lymphoblastic leukaemia and tumour evolution resulting in elevated growth and metastasis in BRAF(V600E)-driven melanoma. 26790525

2016

dbSNP: rs113488022
rs113488022
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis
0.100 GeneticVariation BEFREE In the context of metastatic PTC with SCC dedifferentiation, the presence of the identical BRAF (V600E) (c.1799 T > A) mutation in both components might help rule out tumor to tumor metastasis. 26521063

2016