|
rs121913227
|
|
melanoma
|
TT |
0.800 |
CausalMutation
|
CLINVAR |
Mutations of the BRAF gene in human cancer.
|
12068308 |
2002 |
|
rs121913227
|
|
melanoma
|
CT |
0.800 |
CausalMutation
|
CLINVAR |
Mutations of the BRAF gene in human cancer.
|
12068308 |
2002 |
|
rs121913227
|
|
melanoma
|
|
0.800 |
GeneticVariation
|
BEFREE |
In addition, a double mutation resulting in V599K substitution was detected in two suspect ocular metastases of cutaneous melanoma.
|
14522889 |
2003 |
|
rs121913227
|
|
melanoma
|
TT |
0.800 |
CausalMutation
|
CLINVAR |
Determinants of BRAF mutations in primary melanomas.
|
14679157 |
2003 |
|
rs121913227
|
|
melanoma
|
CT |
0.800 |
CausalMutation
|
CLINVAR |
Determinants of BRAF mutations in primary melanomas.
|
14679157 |
2003 |
|
rs121913227
|
|
melanoma
|
|
0.800 |
GeneticVariation
|
BEFREE |
Tumor-specific tandem mutations, encoding either V599K, V599R, or V599E, were found in 5 of 17 (29%) melanomas with BRAF exon 15 mutations.
|
15140228 |
2004 |
|
rs121913227
|
|
melanoma
|
|
0.800 |
GeneticVariation
|
BEFREE |
Downstream of Ras, the serine/threonine kinase B-raf has been reported to be mutated, among other carcinomas, in a substantial subset of primary melanomas with a preponderance of mutations within the kinase domain including the activating V599E and V599K transitions.
|
15935100 |
2005 |
|
rs121913227
|
|
melanoma
|
|
0.800 |
GeneticVariation
|
BEFREE |
Preponderance of the oncogenic V599E and V599K mutations in the B-raf kinase domain is enhanced in melanoma lymph node metastases.
|
16179870 |
2005 |
|
rs121913227
|
|
melanoma
|
CT |
0.800 |
CausalMutation
|
CLINVAR |
Inhibition of mutated, activated BRAF in metastatic melanoma.
|
20818844 |
2010 |
|
rs121913227
|
|
melanoma
|
TT |
0.800 |
CausalMutation
|
CLINVAR |
Inhibition of mutated, activated BRAF in metastatic melanoma.
|
20818844 |
2010 |
|
rs121913227
|
|
melanoma
|
TT |
0.800 |
CausalMutation
|
CLINVAR |
Incidence of the V600K mutation among melanoma patients with BRAF mutations, and potential therapeutic response to the specific BRAF inhibitor PLX4032.
|
20630094 |
2010 |
|
rs121913227
|
|
melanoma
|
CT |
0.800 |
CausalMutation
|
CLINVAR |
RG7204 (PLX4032), a selective BRAFV600E inhibitor, displays potent antitumor activity in preclinical melanoma models.
|
20551065 |
2010 |
|
rs121913227
|
|
melanoma
|
|
0.800 |
GeneticVariation
|
BEFREE |
We have evaluated five real-time ARMS assays: BRAF 1799T>A, [this includes V600E and V600K] and NRAS 182A>G [Q61R] and 181C>A [Q61K] in melanoma, EGFR 2573T>G [L858R], 2235-2249del15 [E746-A750del] in non-small-cell lung cancer, and compared the results to DNA sequencing of the mutation 'hot-spots' in these genes in formalin-fixed paraffin-embedded tumour (FF-PET) DNA.
|
20925915 |
2010 |
|
rs121913227
|
|
melanoma
|
CT |
0.800 |
CausalMutation
|
CLINVAR |
Improved survival with vemurafenib in melanoma with BRAF V600E mutation.
|
21639808 |
2011 |
|
rs121913227
|
|
melanoma
|
TT |
0.800 |
CausalMutation
|
CLINVAR |
Improved survival with vemurafenib in melanoma with BRAF V600E mutation.
|
21639808 |
2011 |
|
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 |