|
rs121913227
|
|
melanoma
|
CT |
0.800 |
CausalMutation
|
CLINVAR |
We have treated 45 patients with V600 mutated melanoma including patients with V600R mutation between July 2011 and October 2012 with the selective BRAF inhibitor dabrafenib (n=43) or vemurafenib (n=2) via a compassionate access programme.
|
23237741 |
2013 |
|
rs121913227
|
|
melanoma
|
CT |
0.800 |
CausalMutation
|
CLINVAR |
Effect of dabrafenib on melanoma cell lines harbouring the BRAF(V600D/R) mutations.
|
23317446 |
2013 |
|
rs121913227
|
|
melanoma
|
TT |
0.800 |
CausalMutation
|
CLINVAR |
Phase II trial (BREAK-2) of the BRAF inhibitor dabrafenib (GSK2118436) in patients with metastatic melanoma.
|
23918947 |
2013 |
|
rs121913227
|
|
melanoma
|
CT |
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 |
|
rs121913227
|
|
melanoma
|
|
0.800 |
GeneticVariation
|
BEFREE |
In this study, sensitive and quantitative BRAF V600E and V600K mutation-specific real-time quantitative PCR was used to study the occurrence of small subsets of mutation-positive cells in primary melanomas and melanoma metastases.
|
23499336 |
2013 |
|
rs121913227
|
|
melanoma
|
CT |
0.800 |
CausalMutation
|
CLINVAR |
Phase II study of the MEK1/MEK2 inhibitor Trametinib in patients with metastatic BRAF-mutant cutaneous melanoma previously treated with or without a BRAF inhibitor.
|
23248257 |
2013 |
|
rs121913227
|
|
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 |
|
rs121913227
|
|
melanoma
|
TT |
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 |
|
rs121913227
|
|
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 |
|
rs121913227
|
|
melanoma
|
|
0.800 |
GeneticVariation
|
BEFREE |
We have treated 45 patients with V600 mutated melanoma including patients with V600R mutation between July 2011 and October 2012 with the selective BRAF inhibitor dabrafenib (n=43) or vemurafenib (n=2) via a compassionate access programme.
|
23237741 |
2013 |
|
rs121913227
|
|
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 |
|
rs121913227
|
|
melanoma
|
|
0.800 |
GeneticVariation
|
BEFREE |
One (6·7%, 0·2-31·9) of 15 patients with Val600Lys BRAF-mutant melanoma achieved an overall intracranial response in cohort A, as did four (22·2%, 6·4-47·6) of 18 such patients in cohort B. Treatment-related adverse events of grade 3 or worse occurred in 38 (22%) patients.
|
23051966 |
2012 |
|
rs121913227
|
|
melanoma
|
|
0.800 |
GeneticVariation
|
BEFREE |
Amongst BRAF-mutant melanoma, the frequency of non-V600E genotypes (including V600K) increased with increasing age.
|
22535154 |
2012 |
|
rs121913227
|
|
melanoma
|
TT |
0.800 |
CausalMutation
|
CLINVAR |
Dabrafenib in patients with melanoma, untreated brain metastases, and other solid tumours: a phase 1 dose-escalation trial.
|
22608338 |
2012 |
|
rs121913227
|
|
melanoma
|
|
0.800 |
GeneticVariation
|
BEFREE |
Vemurafenib has been extensively tested on melanoma patients expressing the BRAFV600E mutated form; it has been demonstrated to be also effective in inhibiting melanomas carrying the V600K mutation.
|
22554099 |
2012 |
|
rs121913227
|
|
melanoma
|
CT |
0.800 |
CausalMutation
|
CLINVAR |
Combined BRAF and MEK inhibition in melanoma with BRAF V600 mutations.
|
23020132 |
2012 |
|
rs121913227
|
|
melanoma
|
TT |
0.800 |
CausalMutation
|
CLINVAR |
Phase II, open-label, randomized trial of the MEK1/2 inhibitor selumetinib as monotherapy versus temozolomide in patients with advanced melanoma.
|
22048237 |
2012 |
|
rs121913227
|
|
melanoma
|
TT |
0.800 |
CausalMutation
|
CLINVAR |
Dabrafenib in BRAF-mutated metastatic melanoma: a multicentre, open-label, phase 3 randomised controlled trial.
|
22735384 |
2012 |
|
rs121913227
|
|
melanoma
|
CT |
0.800 |
CausalMutation
|
CLINVAR |
Survival in BRAF V600-mutant advanced melanoma treated with vemurafenib.
|
22356324 |
2012 |
|
rs121913227
|
|
melanoma
|
TT |
0.800 |
CausalMutation
|
CLINVAR |
Activity of the oral MEK inhibitor trametinib in patients with advanced melanoma: a phase 1 dose-escalation trial.
|
22805292 |
2012 |
|
rs121913227
|
|
melanoma
|
CT |
0.800 |
CausalMutation
|
CLINVAR |
Dabrafenib in patients with melanoma, untreated brain metastases, and other solid tumours: a phase 1 dose-escalation trial.
|
22608338 |
2012 |
|
rs121913227
|
|
melanoma
|
CT |
0.800 |
CausalMutation
|
CLINVAR |
Phase II, open-label, randomized trial of the MEK1/2 inhibitor selumetinib as monotherapy versus temozolomide in patients with advanced melanoma.
|
22048237 |
2012 |
|
rs121913227
|
|
melanoma
|
CT |
0.800 |
CausalMutation
|
CLINVAR |
Improved survival with MEK inhibition in BRAF-mutated melanoma.
|
22663011 |
2012 |
|
rs121913227
|
|
melanoma
|
TT |
0.800 |
CausalMutation
|
CLINVAR |
Survival in BRAF V600-mutant advanced melanoma treated with vemurafenib.
|
22356324 |
2012 |
|
rs121913227
|
|
melanoma
|
TT |
0.800 |
CausalMutation
|
CLINVAR |
Routine multiplex mutational profiling of melanomas enables enrollment in genotype-driven therapeutic trials.
|
22536370 |
2012 |