rs121913377, BRAF

N. diseases: 480
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Tumor Cell Invasion
CUI: C1269955
Disease: Tumor Cell Invasion
0.100 GeneticVariation BEFREE OCCLs were evaluated in terms of proliferation, migration, invasion and BRAF V600E point mutation assays. 29291435 2018
Tumor Cell Invasion
CUI: C1269955
Disease: 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
Tumor Cell Invasion
CUI: C1269955
Disease: 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
Tumor Cell Invasion
CUI: C1269955
Disease: Tumor Cell Invasion
0.100 GeneticVariation BEFREE LKB1 loss cooperating with BRAF V600E promotes melanoma cell invasion and migration by up-regulation MMP-2 via PI3K/Akt/mTOR pathway. 29371951 2017
Tumor Cell Invasion
CUI: C1269955
Disease: Tumor Cell Invasion
0.100 GeneticVariation BEFREE By immunohistochemistry, TENM1 expression in papillary thyroid cancer was associated with the classical subtype (p = 0.018), extrathyroidal invasion (p = 0.001), BRAF V600E mutation (p < 0.001), and an advanced stage (p = 0.019). 28004221 2017
Tumor Cell Invasion
CUI: C1269955
Disease: Tumor Cell Invasion
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
Tumor Cell Invasion
CUI: C1269955
Disease: Tumor Cell Invasion
0.100 GeneticVariation BEFREE In functional experiments, Nthy/V600E showed increased anchorage-independent growth and invasion through Matrigel, compared to Nthy/WT. 28031237 2017
Tumor Cell Invasion
CUI: C1269955
Disease: 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
Tumor Cell Invasion
CUI: C1269955
Disease: 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
Tumor Cell Invasion
CUI: C1269955
Disease: Tumor Cell Invasion
0.100 GeneticVariation BEFREE The pooled analysis indicated that age<45 years (OR = 1.57, 95%CI:1.48-1.66, P < 0.001), male gender (OR = 1.79, 95%CI: 1.69-1.91, P < 0.001), tumor size>10 mm (OR = 2.61, 95%CI:2.27-3.00, P < 0.001), bilaterality (OR = 1.52, 95%CI:1.31-1.77, P < 0.001), multifocality (OR = 1.46, 95%CI: 1.31-1.61, P < 0.001), extracapsular invasion (OR = 2.10, 95%CI:1.81-2.43, P < 0.001), angiolymphatic invasion (OR = 8.02, 95%CI:5.00-12.87, P < 0.001), high histologic risk (OR = 2.62, 95%CI:2.13-3.22, P < 0.001) and BRAF(V600E) mutation (OR:1.78, 95%CI:1.38-2.30, P < 0.001) were significantly associated with CLNM, and upper third location (OR = 0.54, 95%CI:0.43-0.67, P < 0.001) and lymphocytic thyroiditis (OR = 0.64, 95%CI:0.42-0.97, P = 0.034) were decreased risk factors of CLNM. 26944586 2016
Tumor Cell Invasion
CUI: C1269955
Disease: Tumor Cell Invasion
0.100 GeneticVariation BEFREE Thirteen PTCs had the B-Raf proto-oncogene, serine/threonine kinase (BRAF) valine-to-glutamic acid mutation at position 600 (BRAF(V) (600E)) (13 of 27 tumors; 48%), 11 measured <2 cm, and 6 had lymphatic invasion (46%), with vascular invasion in 3. 26784937 2016
Tumor Cell Invasion
CUI: C1269955
Disease: Tumor Cell Invasion
0.100 GeneticVariation BEFREE We found significant association between BRAF (V600E) mutation and age (P < 0.0001), extrathyroidal invasion (P = 0.017), lymph node metastasis (P = 0.038) and TNM stage III/IV (P = 0.001). 27387551 2016
Tumor Cell Invasion
CUI: C1269955
Disease: 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
Tumor Cell Invasion
CUI: C1269955
Disease: Tumor Cell Invasion
0.100 GeneticVariation BEFREE Doxycyclin-inducible knockdown of endogenous B-Raf(V600E) decreases cellular motility and invasion in conventional and three-dimensional (3D) culture, whereas it promotes cell-cell contacts and induces various hallmarks of differentiated epithelia. 25381152 2015
Tumor Cell Invasion
CUI: C1269955
Disease: Tumor Cell Invasion
0.100 GeneticVariation BEFREE Dual inhibition of BRAF(V600E) and MEK reduced but did not prevent SW1736 invasion although rebound phosphorylation of ERK in response to PLX4720 was blocked by U0126. 26384551 2015
Tumor Cell Invasion
CUI: C1269955
Disease: 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
Tumor Cell Invasion
CUI: C1269955
Disease: Tumor Cell Invasion
0.100 GeneticVariation BEFREE Here, we report that guanosine monophosphate synthase (GMPS), an enzyme required for the de novo biosynthesis of GMP, has a major role in invasion and tumorigenicity of cells derived from either BRAF(V600E) or NRAS(Q61R) human metastatic melanomas. 25909885 2015
Tumor Cell Invasion
CUI: C1269955
Disease: Tumor Cell Invasion
0.100 GeneticVariation BEFREE There was no significant association between BRAF(V600E) mutation and sex, histologic type, the Clark level, the Breslow index, solar elastosis, angiolymphatic and perineural invasion, satellitosis, and coexisting nevus. 24471189 2014
Tumor Cell Invasion
CUI: C1269955
Disease: Tumor Cell Invasion
0.100 GeneticVariation BEFREE Moreover, proliferation and invasion assays were conducted using cell lines. miRNA array analysis revealed that microRNA-31 (miR-31)-5p was the most up-regulated miRNA in CRCs with mutated BRAF (V600E) compared with CRCs possessing wild-type BRAF (including cases with KRAS mutation). 24242331 2014
Tumor Cell Invasion
CUI: C1269955
Disease: 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
Tumor Cell Invasion
CUI: C1269955
Disease: Tumor Cell Invasion
0.100 GeneticVariation BEFREE We concluded that the presence of BRAF(V600E) could be preoperatively predictive of extrathyroidal invasion in a Chinese population. 25400776 2014
Tumor Cell Invasion
CUI: C1269955
Disease: Tumor Cell Invasion
0.100 GeneticVariation BEFREE The BRAF(V600E) mutation was significantly associated with male sex, tumor size, extrathyroidal invasion, nodal metastasis, and advanced tumor stage (p < .05). 22488961 2013
Tumor Cell Invasion
CUI: C1269955
Disease: 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
Tumor Cell Invasion
CUI: C1269955
Disease: Tumor Cell Invasion
0.100 GeneticVariation BEFREE One-hundred and twenty-nine papillary thyroid microcarcinomas were tested for BRAF(V600E) mutation by single-strand conformation polymorphism, and their clinicopathologic features (age, sex, tumor size, multifocality, nodal metastases, histologic subtype, tumor cell morphology, architecture, tumor-associated stromal reaction, tumor interface to non-neoplastic thyroid (well circumscribed vs infiltrative), extrathyroidal extension, lymphovascular invasion, intratumoral multinucleated giant cells, and adjacent non-neoplastic thyroid pathology) were examined. 22918165 2013
Tumor Cell Invasion
CUI: C1269955
Disease: 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