|
melanoma
|
|
0.800 |
GeneticVariation
|
BEFREE |
Melanomas had p.V600E (n = 30), p.V600K (n = 4), p.K601E (n = 1), p.600-601delinsE (n = 1), or no p.V600 mutations (n = 31).
|
23651150 |
2014 |
|
melanoma
|
|
0.800 |
GeneticVariation
|
BEFREE |
V600R mutation and double (V600E -V600M) mutation were identified in two melanomas.In one case, V600K mutation was found.Two screening failures were noted.
|
23463675 |
2013 |
|
melanoma
|
|
0.800 |
GeneticVariation
|
BEFREE |
V600R-mutant melanoma accounts for a significant number of cases even in single-institution practices.
|
31305324 |
2020 |
|
melanoma
|
|
0.800 |
CausalMutation
|
CLINVAR |
Activity of the oral MEK inhibitor trametinib in patients with advanced melanoma: a phase 1 dose-escalation trial.
|
22805292 |
2012 |
|
melanoma
|
|
0.800 |
CausalMutation
|
CLINVAR |
Activity of the oral MEK inhibitor trametinib in patients with advanced melanoma: a phase 1 dose-escalation trial.
|
22805292 |
2012 |
|
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 |
|
melanoma
|
|
0.800 |
GeneticVariation
|
BEFREE |
Amongst BRAF-mutant melanoma, the frequency of non-V600E genotypes (including V600K) increased with increasing age.
|
22535154 |
2012 |
|
Neoplasm Metastasis
|
|
0.080 |
GeneticVariation
|
BEFREE |
As to the B-raf protein sequence, the acidic amino acid transitions V599E and V599K were predicted in 19/60 (32%) and 6/60 (10%) cases, respectively, but were not associated with enhanced risk for subsequent metastasis in patients' follow up.
|
15935100 |
2005 |
|
Metastatic melanoma
|
|
0.090 |
GeneticVariation
|
BEFREE |
BRAF inhibitor activity in V600R metastatic melanoma.
|
23237741 |
2013 |
|
Neoplasms
|
|
0.060 |
GeneticVariation
|
BEFREE |
BRAF mutations were detectable in cfDNA in 76% and 81% of patients with BRAF V600E/V600K-positive tumors, respectively.
|
26446943 |
2016 |
|
Metastatic melanoma
|
|
0.090 |
GeneticVariation
|
BEFREE |
BRAF/MEK inhibitor therapy improves outcomes in BRAF V600E- and V600K-mutated unresectable or metastatic melanoma.
|
28738051 |
2017 |
|
melanoma
|
|
0.800 |
GeneticVariation
|
BEFREE |
BRAFp.V600E, p.V600K, and p.V600R Mutations in Malignant Melanoma: Do They Also Differ in Immunohistochemical Assessment and Clinical Features?
|
26633701 |
2016 |
|
melanoma
|
|
0.800 |
GeneticVariation
|
BEFREE |
CAST-PCR gave rapid and accurate results for the common V600E and V600K mutations, however additional assays are required to detect rarer BRAF mutation types found in 3-4% of melanomas.
|
23584600 |
2013 |
|
melanoma
|
|
0.800 |
CausalMutation
|
CLINVAR |
Clinical responses to selumetinib (AZD6244; ARRY-142886)-based combination therapy stratified by gene mutations in patients with metastatic melanoma.
|
22972589 |
2013 |
|
melanoma
|
|
0.800 |
CausalMutation
|
CLINVAR |
Clinical responses to selumetinib (AZD6244; ARRY-142886)-based combination therapy stratified by gene mutations in patients with metastatic melanoma.
|
22972589 |
2013 |
|
melanoma
|
|
0.800 |
CausalMutation
|
CLINVAR |
Combined BRAF and MEK inhibition in melanoma with BRAF V600 mutations.
|
23020132 |
2012 |
|
Lentigo maligna melanoma
|
|
0.010 |
GeneticVariation
|
BEFREE |
Compared to tumors without the mutation, the P131L mutant positive tumors were associated with increased thickness (p = 0.02), head and neck (p = 0.009) and upper limb (p = 0.03) location, lentigo maligna melanoma subtype (p = 0.02) and BRAF V600K (p = 0.04) but not V600E or NRAS codon 61 mutations.
|
25544760 |
2015 |
|
Neoplasms
|
|
0.060 |
GeneticVariation
|
BEFREE |
Compared with V600E, the presence of a V600K mutation was significantly associated with older age (median, 60.0 years vs 44.7 years; P < .001), male sex (80% vs 59%; P = .001), head/neck primary tumor location (30% vs 15%; P = .0026), shorter interval to stage IV disease (0.98 years vs 2.8 years; P = .015), and a shorter overall survival from the time of diagnosis of stage IV disease (median, 2.44 years vs 1.25 years; hazards ratio, 1.68 [P = .014]).
|
23922205 |
2013 |
|
Neoplasms
|
|
0.060 |
GeneticVariation
|
BEFREE |
Considered separately, BRAF V600E mutant melanomas were strongly associated with MSS independently of thickness and nodal status (HR 3.89, 95% CI 1.67-9.09; P < 0.01) but BRAF V600K</span> mutant tumours were not (HR 1.19, 95% CI 0.36-3.92; P = 0.77).
|
25752325 |
2015 |
|
melanoma
|
|
0.800 |
CausalMutation
|
CLINVAR |
Dabrafenib in BRAF-mutated metastatic melanoma: a multicentre, open-label, phase 3 randomised controlled trial.
|
22735384 |
2012 |
|
melanoma
|
|
0.800 |
CausalMutation
|
CLINVAR |
Dabrafenib in BRAF-mutated metastatic melanoma: a multicentre, open-label, phase 3 randomised controlled trial.
|
22735384 |
2012 |
|
melanoma
|
|
0.800 |
CausalMutation
|
CLINVAR |
Dabrafenib in patients with melanoma, untreated brain metastases, and other solid tumours: a phase 1 dose-escalation trial.
|
22608338 |
2012 |
|
melanoma
|
|
0.800 |
CausalMutation
|
CLINVAR |
Dabrafenib in patients with melanoma, untreated brain metastases, and other solid tumours: a phase 1 dose-escalation trial.
|
22608338 |
2012 |
|
Metastatic melanoma
|
|
0.090 |
GeneticVariation
|
BEFREE |
Dabrafenib in patients with Val600Glu or Val600Lys BRAF-mutant melanoma metastatic to the brain (BREAK-MB): a multicentre, open-label, phase 2 trial.
|
23051966 |
2012 |
|
melanoma
|
|
0.800 |
CausalMutation
|
CLINVAR |
Database of genomic biomarkers for cancer drugs and clinical targetability in solid tumors.
|
25656898 |
2015 |