rs1057519718
|
|
TC |
0.700 |
CausalMutation |
CLINVAR |
Kinase-dead BRAF and oncogenic RAS cooperate to drive tumor progression through CRAF.
|
20141835 |
2010 |
rs1057519718
|
|
TC |
0.700 |
CausalMutation |
CLINVAR |
Mutations of the BRAF gene in human cancer.
|
12068308 |
2002 |
rs1057519718
|
|
TC |
0.700 |
CausalMutation |
CLINVAR |
Determinants of BRAF mutations in primary melanomas.
|
14679157 |
2003 |
rs1057519720
|
|
GA |
0.700 |
GeneticVariation |
CLINVAR |
Prospective enterprise-level molecular genotyping of a cohort of cancer patients.
|
25157968 |
2014 |
rs1057519720
|
|
GA |
0.700 |
GeneticVariation |
CLINVAR |
Analysis of BRAF mutation in primary and metastatic melanoma.
|
16096377 |
2005 |
rs113488022
|
|
|
0.800 |
GeneticVariation |
BEFREE |
We observed mutations resulting in the V599E amino-acid substitution in 41 of 60 (68%) melanoma metastases, 4 of 5 (80%) primary melanomas and, unexpectedly, in 63 of 77 (82%) nevi.
|
12447372 |
2003 |
rs113488022
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
Prognostic value of BRAF mutations in localized cutaneous melanoma.
|
24388723 |
2014 |
rs113488022
|
|
|
0.800 |
GeneticVariation |
BEFREE |
However, in this study, we document that blocking the Ras-Raf-Mek-Erk MAPK pathway, either with an ERK (PLX4032) or a MEK (U1026) signaling inhibitor, in BRAF(V600E) human and murine melanoma cell lines increases collagen synthesis in vitro and collagen deposition in vivo.
|
25989506 |
2015 |
rs113488022
|
|
|
0.800 |
GeneticVariation |
BEFREE |
Melanoma treatment with the BRAF V600E inhibitor vemurafenib provides therapeutic benefits but the common emergence of drug resistance remains a challenge.
|
30010109 |
2018 |
rs113488022
|
|
|
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 |
rs113488022
|
|
|
0.800 |
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 |
rs113488022
|
|
|
0.800 |
GeneticVariation |
BEFREE |
The most common mutation in CM was V599E, but a novel point mutation (L596Q) was identified in two cases and an in-frame deletion/insertion (VKSRWK599-604D) was discovered in one case.
|
14522897 |
2003 |
rs113488022
|
|
|
0.800 |
GeneticVariation |
BEFREE |
Several transcription factors and signaling pathways involved in the regulation of MITF expression and/or activity such as the Wnt/β-catenin pathway are broadly utilized by various types of tumors, whereas others, e.g., BRAF(V600E)/ERK1/2 are more specific for melanoma.
|
25433395 |
2015 |
rs113488022
|
|
|
0.800 |
GeneticVariation |
BEFREE |
These data reveal a mechanism by which BRAF(V600E) and PI3K signaling cooperate to regulate melanoma proliferation through AKT-independent effects on protein translation.
|
24425783 |
2014 |
rs113488022
|
|
|
0.800 |
GeneticVariation |
BEFREE |
Primary pineal malignant melanoma with B-Raf V600E mutation: a case report and brief review of the literature.
|
25976339 |
2015 |
rs113488022
|
|
|
0.800 |
GeneticVariation |
BEFREE |
In the present study, fibroblasts were isolated from a patient suffering from acrolentiginous melanoma (Breslow, 4.0 mm; Clark, IV; B‑Raf V600E mutated).
|
29393387 |
2018 |
rs113488022
|
|
|
0.800 |
GeneticVariation |
BEFREE |
To enhance potential disease relevance by verifying expression of altered genes in BRAF-driven cancer tissue, parallel RNA-seq was also undertaken of two BRAF(V600E)-mutant human melanomas.
|
22581800 |
2012 |
rs113488022
|
|
|
0.800 |
GeneticVariation |
BEFREE |
Thus, cationic nanoliposomes loaded with siRNA targeting (V600E)B-Raf and Akt3 provide an effective approach for targeted inhibition of early or invasive cutaneous melanomas.
|
18794153 |
2008 |
rs113488022
|
|
|
0.800 |
GeneticVariation |
BEFREE |
AEBP1 upregulation confers acquired resistance to BRAF (V600E) inhibition in melanoma.
|
24201813 |
2013 |
rs113488022
|
|
|
0.800 |
GeneticVariation |
BEFREE |
We collected CSF from patients with BRAF V600E or K-mutated melanoma (N=8) or BRAF V600E mutated Erdheim-Chester Disease (ECD) (N=3) with suspected central nervous system (CNS) involvement on the basis of neurological symptoms (10/11), MRI imaging (8/11), or both.
|
27863426 |
2016 |
rs113488022
|
|
|
0.800 |
GeneticVariation |
BEFREE |
A novel RFLP-ARMS TaqMan PCR-based method for detecting the BRAF V600E mutation in melanoma.
|
30008844 |
2018 |
rs113488022
|
|
|
0.800 |
GeneticVariation |
BEFREE |
Expression of aberrantly spliced BRAF V600E isoforms (BRAF V600E ΔEx) mediates resistance in 13%-30% of melanoma patients progressing on RAF inhibitors.
|
30404005 |
2018 |
rs113488022
|
|
|
0.800 |
GeneticVariation |
BEFREE |
Frequent somatic mutations of BRAF (v-raf murine sarcoma viral oncogene homolog B) exon T1799A, which are implicated in the initial events of promutagenic cellular proliferation, are detected in both malignant melanomas (MM) and melanocytic nevi (MN).
|
21326296 |
2011 |
rs113488022
|
|
|
0.800 |
GeneticVariation |
BEFREE |
Dabrafenib has activity and an acceptable safety profile in patients with Val600Glu BRAF-mutant melanoma and brain metastases irrespective of whether they are untreated or have been previously treated but have progressed.
|
23051966 |
2012 |
rs113488022
|
|
|
0.800 |
GeneticVariation |
BEFREE |
To our knowledge, our data unveil a previously unknown role for the autocrine-regulated CSF-1R in BRAF V600E resistance and provide a preclinical rationale for targeting this pathway in melanoma.
|
30046005 |
2018 |