Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121913377
rs121913377
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion
0.100 GeneticVariation BEFREE Coexistence of BRAF V600E and TERT promoter mutations was particularly associated with high-risk clinicopathological features, as exemplified by extrathyroidal invasion seen in 54.5% (12/22) of patients harboring both mutations versus 9.9% (23/232) of patients harboring neither mutation (P < 0.001). 26943032

2016

dbSNP: rs121913377
rs121913377
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion
0.100 GeneticVariation BEFREE One case not meeting criteria for NIFTP maintained the diagnosis of encapsulated FVPTC without invasion but demonstrated significant mitotic activity (three mitoses/ten HPF) and lacked lymph node metastases and BRAF V600E mutation. 29368294

2018

dbSNP: rs121913377
rs121913377
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion
0.100 GeneticVariation BEFREE At univariate analysis the worst outcome for PTC patients was significantly correlated with clinicopathological features (i.e. age, tumor size, extrathyroid extension, lymph node and distant metastases, advanced stage, vascular endothelial growth factor expression, and vascular invasion) and the BRAF(V600E) mutation (P < 0.002). 18682506

2008

dbSNP: rs121913377
rs121913377
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion
0.100 GeneticVariation BEFREE BRAF (V600E) causes upregulation of tissue inhibitor of metalloproteinase-1 (TIMP-1), which promotes cell invasion in papillary thyroid carcinoma (PTC). 23893334

2013

dbSNP: rs121913377
rs121913377
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion
0.100 GeneticVariation BEFREE Moreover, over-expression of (V600E)BRAF increases migration and invasion of wild-type BRAF thyroid cells. 23435375

2013

dbSNP: rs121913377
rs121913377
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion
0.100 GeneticVariation BEFREE Moreover, statistically significant correlations of BRAF(V600E) with indicators of tumor aggressiveness such as thyroid capsular invasion, multifocality, lymph node metastasis, and extrathyroidal spread were found. 22426956

2012

dbSNP: rs121913377
rs121913377
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion
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: rs121913377
rs121913377
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion
0.100 GeneticVariation BEFREE We find that metastatic BRAF(V600E)-PTC cells elicit paracrine-signaling which trigger migration of pericytes, blood endothelial cells and lymphatic endothelial cells as compared to BRAF(WT)-PTC cells, and show a higher rate of invasion. 26636651

2015

dbSNP: rs121913377
rs121913377
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion
0.100 GeneticVariation BEFREE The association between BRAF((V600E)) and extra-thyroid invasion</span> was also found in micro-PTCs (P=0.006). 18310287

2008

dbSNP: rs121913377
rs121913377
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion
0.100 GeneticVariation BEFREE In conclusion, B-Raf(V600E) plays an important role in PTC progression through genes (i.e., TSP-1) important in tumor invasion and metastasis. 20498063

2010

dbSNP: rs121913377
rs121913377
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion
0.100 GeneticVariation BEFREE BRAF V600E mutation in papillary thyroid carcinoma: significant association with node metastases and extra thyroidal invasion. 22105775

2012

dbSNP: rs121913377
rs121913377
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion
0.100 GeneticVariation BEFREE Considering all tumor foci, the all BRAF(V600E) mutation group exhibited a younger population (P = .039), showed increased extrathyroidal invasion (38.8% vs 14.7%, P = .017) and lymph node metastasis (71.4% vs 48.4%, P = .038), and received more radioactive iodine therapy (79.2% vs 52.9%, P = .012) than the mixed BRAF(V600E) mutation group. 24612623

2014

dbSNP: rs121913377
rs121913377
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion
0.100 GeneticVariation BEFREE However, in multivariate COX analysis, the association remained significant only for CA125 levels (vs. ⩽ 35 u/ml group, HR 3.341; 95% CI, 1.198-9.316; P= 0.0212), vascular invasion (vs. negative vascular invasion, HR, 2.349; 95% CI, 1.227-4.499; P= 0.01), and BRAF (V600E) (vs. wild Braf, HR, 7.794; 95% CI, 1.867-32.531; P= 0.0049). 29562502

2018

dbSNP: rs121913377
rs121913377
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion
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: rs121913377
rs121913377
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion
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: rs121913377
rs121913377
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion
0.100 GeneticVariation BEFREE This meta-analysis confirmed significant associations between BRAF(V600E) mutation and female gender, multifocality, ETE, LNM, TNM stage, concomitant hashimoto thyroiditis, vascular invasion and recurrence/persistence, suggesting the predictive value of BRAF(V600E) mutation for PTC prognosis. 26871894

2016