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
|
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
|
|
0.800 |
GeneticVariation
|
BEFREE |
If confirmed using larger numbers of V600K tumors, our results may prove useful for designing clinical management and targeted chemotherapeutical interventions for BRAF V600K-positive melanomas.
|
28858076 |
2017 |
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
|
CT |
0.800 |
CausalMutation
|
CLINVAR |
Effect of dabrafenib on melanoma cell lines harbouring the BRAF(V600D/R) mutations.
|
23317446 |
2013 |
rs121913227
|
|
melanoma
|
|
0.800 |
GeneticVariation
|
BEFREE |
The kinetics of ctDNA derived from each cancer type were monitored targeting BRAF V600R (melanoma) and KRAS G13D (colon cancer), specifically reflected the status of the patient's tumours.
|
31727009 |
2019 |
rs121913227
|
|
melanoma
|
|
0.800 |
GeneticVariation
|
BEFREE |
The history of melanoma prompted molecular analysis, and the lesion was found to harbor the BRAF V600K mutation, consistent with metastatic dedifferentiated melanoma.
|
30562218 |
2019 |
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
|
CT |
0.800 |
CausalMutation
|
CLINVAR |
Prospective enterprise-level molecular genotyping of a cohort of cancer patients.
|
25157968 |
2014 |
rs121913227
|
|
melanoma
|
|
0.800 |
GeneticVariation
|
BEFREE |
The safety and efficacy of cobimetinib for the treatment of BRAF V600E or V600K melanoma.
|
27219630 |
2016 |
rs121913227
|
|
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 |
rs121913227
|
|
melanoma
|
|
0.800 |
GeneticVariation
|
BEFREE |
V600R-mutant melanoma accounts for a significant number of cases even in single-institution practices.
|
31305324 |
2020 |
rs121913227
|
|
melanoma
|
CT |
0.800 |
CausalMutation
|
CLINVAR |
Improved survival with vemurafenib in melanoma with BRAF V600E mutation.
|
21639808 |
2011 |
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 |
Phase II trial (BREAK-2) of the BRAF inhibitor dabrafenib (GSK2118436) in patients with metastatic melanoma.
|
23918947 |
2013 |
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 |
Eligible participants were adult patients (aged ≥18 years) with histologically or cytologically confirmed surgically resectable clinical stage III or oligometastatic stage IV BRAF<sup>V600E</sup> or BRAF<sup>V600K</sup> (ie, Val600Glu or Val600Lys)-mutated melanoma.
|
29361468 |
2018 |
rs121913227
|
|
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 |
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
|
|
0.800 |
GeneticVariation
|
BEFREE |
In a patient with a BRAF(V600K)-mutant melanoma responding to vemurafenib, we observed accelerated progression of a previously unrecognized NRAS-mutant leukemia.
|
24589925 |
2014 |
rs121913227
|
|
melanoma
|
|
0.800 |
GeneticVariation
|
BEFREE |
The US FDA approved a liquid biopsy test for EGFR activating mutations in patients with non-small cell lung cancer (NSCLC) as a companion diagnostic for therapy selection. ctDNA also allows for the identification of mutations selected by treatment such as EGFR T790M in NSCLC. ctDNA can also detect mutations such as KRAS G12V in colorectal cancer and BRAF V600E/V600K in melanoma.
|
30335711 |
2018 |
rs121913227
|
|
melanoma
|
|
0.800 |
GeneticVariation
|
BEFREE |
V600K, V600Q, and V600R BRAF melanomas did not positively stain with VE1.
|
24917033 |
2014 |
rs121913227
|
|
melanoma
|
CT |
0.800 |
CausalMutation
|
CLINVAR |
Combined BRAF and MEK inhibition in melanoma with BRAF V600 mutations.
|
23020132 |
2012 |
rs121913227
|
|
melanoma
|
|
0.800 |
GeneticVariation
|
BEFREE |
The US Food and Drug Administration approved a liquid biopsy test for EGFR-activating mutations in patients with non-small-cell lung cancer as a companion diagnostic for therapy selection. ctDNA also allows for the identification of mutations selected by treatment such as EGFR T790M in non-small-cell lung cancer. ctDNA can also detect mutations such as KRAS G12V in colorectal cancer and BRAF V600E/V600K in melanoma.
|
30883505 |
2019 |
rs121913227
|
|
melanoma
|
|
0.800 |
GeneticVariation
|
BEFREE |
In total, 88 patients (54%) had BRAFm melanoma (V600E/V600K).
|
26659191 |
2016 |