rs121913377
|
|
melanoma
|
|
0.800 |
GeneticVariation
|
BEFREE |
This hospital-based study finds high sensitivity and specificity for the BRAF VE1 immunostain in comparison to pyrosequencing in detection of BRAF V600E in melanomas.
|
24917033 |
2014 |
rs121913377
|
|
melanoma
|
|
0.800 |
GeneticVariation
|
BEFREE |
We present a case of a woman with BRAF V600E-mutated malignant melanoma and rapidly progressing liver, bone, and lymph node metastases.
|
29215399 |
2018 |
rs121913377
|
|
melanoma
|
|
0.800 |
GeneticVariation
|
BEFREE |
In 2002, a mutation at the V600E amino acid of the BRAF serine/threonine kinase was described as present in over 50% of melanomas.
|
20425073 |
2010 |
rs121913377
|
|
melanoma
|
|
0.800 |
GeneticVariation
|
BEFREE |
To identify such contributing factors, we used microarray gene expression profiling to screen for differences in gene expression between a panel of melanocytic and melanoma cell lines with WT BRAF and a group of melanoma cell lines with the V599E BRAF mutation.
|
15313890 |
2004 |
rs121913377
|
|
melanoma
|
|
0.800 |
GeneticVariation
|
BEFREE |
Potent and selective BRAF inhibitors have demonstrated significant clinical benefits in patients with V600E and V600K BRAF-mutated melanoma.
|
23237741 |
2013 |
rs121913377
|
|
melanoma
|
|
0.800 |
GeneticVariation
|
BEFREE |
The second is vemurafenib, an inhibitor that blocks the abnormal signaling for melanoma cellular growth in tumors that carry the BRAF(V600E) mutation.
|
23082737 |
2012 |
rs121913377
|
|
melanoma
|
|
0.800 |
GeneticVariation
|
BEFREE |
By using genetic material collected noninvasively and to further validate the PLA, somatic hotspot mutations in genes known to be drivers of early melanoma development (BRAF other than V600E, NRAS, and the TERT promoter) can also be identified.
|
30500343 |
2019 |
rs121913377
|
|
melanoma
|
|
0.800 |
GeneticVariation
|
BEFREE |
Among the 20 melanomas with completed BRAF-sequencing analysis, 6 (30%) harbored a mutation, of which 5 (83%) had a V600E mutation and 1 (17%) had a V600R mutation.
|
22809251 |
2012 |
rs121913377
|
|
melanoma
|
|
0.800 |
GeneticVariation
|
BEFREE |
The high frequency of non-p.V600E BRAF mutations in melanoma has important implications because the FDA-approved companion diagnostic test for p.V600E detects some but not all non-p.V600E mutations.
|
23273605 |
2013 |
rs121913377
|
|
melanoma
|
|
0.800 |
GeneticVariation
|
BEFREE |
The data obtained show that the V600E BRAF mutation occurred in about half of melanoma patients; it was associated with earlier manifestation of melanoma and likely with more aggressive clinical features.
|
26600396 |
2016 |
rs121913377
|
|
melanoma
|
|
0.800 |
GeneticVariation
|
BEFREE |
Oncogenic BRAF V600E (BRAF(V600E)) substitutions are observed primarily in melanoma, colon cancer, and non-small cell lung cancer, but have been identified in multiple tumor types.
|
27048246 |
2016 |
rs121913377
|
|
melanoma
|
|
0.800 |
GeneticVariation
|
BEFREE |
Because the same V599E point mutation was observed in three of six melanoma cell lines and no such mutations were observed in other types of cancers, we focused further on melanoma, performed mutation analyses of NRAS, KRAS, CTNNB1, and p16/p14(ARF) in these cell lines, and found one NRAS mutation and three p16/p14(ARF) mutations.
|
15191558 |
2004 |
rs121913377
|
|
melanoma
|
|
0.800 |
GeneticVariation
|
BEFREE |
In a patient (whose melanoma showed to bear the BRAF V600E mutation in blood, but not at tissue level) our analysis showed that blood samples with PCR evidence for CMC were heterogeneous for BRAF status under limiting-dilution conditions, suggestive of heterogeneity of CMC.
|
21570823 |
2011 |
rs121913377
|
|
melanoma
|
|
0.800 |
GeneticVariation
|
BEFREE |
Of note, neither the necrosis inhibitor necrostatin-1 nor the small interference RNA (siRNA) knockdown of receptor-interacting protein kinase 3 (RIPK3) inhibited cell death, suggesting that RIPK1 and RIPK3 do not contribute to induction of necrosis by combinations of HDAC and BRAF inhibitors in BRAF(V600E) melanoma cells.
|
23744355 |
2013 |
rs121913377
|
|
melanoma
|
|
0.800 |
GeneticVariation
|
BEFREE |
The suppressive activity of the culture supernatants from the melanoma cells on the production of inflammatory cytokines IL-12 and tumor necrosis factor alpha by dendritic cells upon lipopolysaccharide stimulation was markedly reduced after transduction with BRAF(V600E) RNAi, comparable to the effects observed with STAT3 RNAi transduction.
|
16801397 |
2006 |
rs121913377
|
|
melanoma
|
|
0.800 |
GeneticVariation
|
BEFREE |
In addition, targeting components of the MAPK pathway have also demonstrated survival advantage in patients with BRAF-mutated melanoma and vemurafenib (Zelboraf™, Plexxikon/Roche) was approved by the FDA in August 2011 for the first-line treatment of both metastatic and unresectable melanomas for patients whose tumors have V600E mutations in the BRAF gene.
|
22091682 |
2011 |
rs121913377
|
|
melanoma
|
|
0.800 |
GeneticVariation
|
BEFREE |
Melanoma arising from a mutation in BRAF codon 594 or 596 can be differentiated from BRAF V600E-induced melanoma, and mutations in these codons may be good prognostic factors for melanoma.
|
28927118 |
2017 |
rs121913377
|
|
melanoma
|
|
0.800 |
GeneticVariation
|
BEFREE |
The frequency of the BRAF(V600E) mutation was 70.3% in the 33 cases, a percentage that increased to 89% when only the subgroup of thin melanomas (≤ 1 mm in thickness, n = 9) was considered.
|
23938765 |
2013 |
rs121913377
|
|
melanoma
|
|
0.800 |
GeneticVariation
|
BEFREE |
No case of melanoma with regression phenomenon presented with BRAF(V600E) mutation (P<0.05).
|
24471189 |
2014 |
rs121913377
|
|
melanoma
|
|
0.800 |
GeneticVariation
|
BEFREE |
Melanoma lymph node metastases were d</span>iagnosed in 21.8% (12/55) of the sentinel nodes, and BRAF V600E immunopositivity was detected in 34.5% (19/55) of the cases.
|
25442222 |
2015 |
rs121913377
|
|
melanoma
|
|
0.800 |
GeneticVariation
|
BEFREE |
These results provide a conceptual framework for the combined deployment of BRAF(V600E) plus PI3K pathway-targeted inhibitors in the treatment of a subset of patients with BRAF-mutated melanoma.
|
25472943 |
2015 |
rs121913377
|
|
melanoma
|
|
0.800 |
GeneticVariation
|
BEFREE |
Inhibition of the BRAF(V600E) oncoprotein by the small-molecule drug PLX4032 (vemurafenib) is highly effective in the treatment of melanoma.
|
22281684 |
2012 |
rs121913377
|
|
melanoma
|
|
0.800 |
GeneticVariation
|
BEFREE |
The BRAF gene has been identified as an oncogene in human cancer and the V600E mutation has been shown to be associated with clinico pathological features of primary invasive melanomas.
|
21262211 |
2011 |
rs121913377
|
|
melanoma
|
|
0.800 |
GeneticVariation
|
BEFREE |
Interestingly, the mutated BRAF (V599E)-specific siRNA inhibited the growth and MAPK activity of only melanoma cell lines with this mutation.
|
15208655 |
2004 |
rs121913377
|
|
melanoma
|
|
0.800 |
GeneticVariation
|
BEFREE |
Using a transgenic BRAF(V600E) mouse model previously generated in our laboratory, we report that loss of ARF is able to enhance spontaneous melanoma formation and cause profound sensitivity to neonatal UVB exposure.
|
23650282 |
2013 |