|
rs121913366
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Liquid biopsy based BRAF L597Q ddPCR testing was a sensitive personalized biomarker predicting the rise of clinically aggressive metastatic disease.
|
31704811 |
2019 |
|
rs867748453
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The 4 new melanomas were wild-type BRAFmelanomas, whereas the new metastasis carried a different BRAF mutation (S467L).
|
25651238 |
2015 |
|
rs121913364
|
|
|
0.020 |
GeneticVariation |
BEFREE |
With a median follow-up of 19.6 months, no structural or biochemical recurrence or metastases were found in patients with an isolated BRAF(K601E) mutation.
|
26422023 |
2016 |
|
rs121913364
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Further studies are necessary to clarify the putative clinical significance (e.g. association to blood-born metastases) of PAX8-PPARgamma rearrangement, RAS mutations, and BRAF(K601E) in FVPTCs.
|
16219715 |
2006 |
|
rs121913227
|
|
|
0.080 |
GeneticVariation |
BEFREE |
Interestingly, by droplet digital PCR, the V600E mutation was also detected in the first primary, and the V600K in the second primary and metastases.
|
30222690 |
2019 |
|
rs121913227
|
|
|
0.080 |
GeneticVariation |
BEFREE |
Mutant allele-specific imbalance of the p.V600E mutation was predominantly present in specimens with distant organ metastases (79% versus 27% in LN metastases versus 13% in primary cutaneous tumors or adjacent soft tissue, P < .001). p.V600K was detected in 23% of men older than 60 years old, compared with 6% in women older than 60 years old and 2% in both men and women younger than 60 years old (P < .001).
|
25456393 |
2015 |
|
rs121913227
|
|
|
0.080 |
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
|
|
|
0.080 |
GeneticVariation |
BEFREE |
The disease-free interval from diagnosis of primary melanoma to first distant metastasis was shorter for patients with V600K compared with V600E melanoma (17.4 vs. 39.2 months, P = 0.048), with no difference in survival thereafter.
|
22535154 |
2012 |
|
rs121913227
|
|
|
0.080 |
GeneticVariation |
BEFREE |
In melanoma, V600K mutations in comparison to other BRAF mutations were associated with more frequent brain (75% vs. 36.3%, p = 0.02) and lung metastases (91.6% vs. 47.7%, p = 0.007), and shorter time from diagnosis to metastasis and to death (19 vs. 53 months, p = 0.046 and 78 vs. 322 months, p = 0.024 respectively).
|
22039425 |
2011 |
|
rs121913227
|
|
|
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 |
|
rs121913227
|
|
|
0.080 |
GeneticVariation |
BEFREE |
The oncogenic B-raf mutations V599E and V599K, as early events in melanocyte transformation, persist throughout metastasis with important prognostic implications.
|
16179870 |
2005 |
|
rs121913227
|
|
|
0.080 |
GeneticVariation |
BEFREE |
In addition, a double mutation resulting in V599K substitution was detected in two suspect ocular metastases of cutaneous melanoma.
|
14522889 |
2003 |
|
rs113488022
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Interestingly, by droplet digital PCR, the V600E mutation was also detected in the first primary, and the V600K in the second primary and metastases.
|
30222690 |
2019 |
|
rs113488022
|
|
|
0.100 |
GeneticVariation |
BEFREE |
One case in a 6-year-old male was morphologically similar to the BRAF V600E mutation-positive adult cases and subsequently metastasized to the lungs; remarkably, the metastases then completely resolved on Braf targeted therapy.
|
31192863 |
2019 |
|
rs113488022
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Associations between BRAF V600E and TERT promoter mutations and clinicopathological features, Tumor-Node-Metastasis stage, initial risk, response to therapy, follow-up, and final disease outcome were assessed according to American Thyroid Association 2015 criteria and the American Joint Committee on Cancer/Tumor-Node-Metastasis (8th edition) staging system.Median follow-up was 120 months.
|
31305897 |
2019 |
|
rs113488022
|
|
|
0.100 |
GeneticVariation |
BEFREE |
In conclusion, there is no prognostic value of BRAF V600E mutation on overall survival in stage I-III melanoma patients, yet its presence might indicate a decreased risk for development of relapse and/or metastasis in stage III melanoma patients.
|
31058533 |
2019 |
|
rs113488022
|
|
|
0.100 |
GeneticVariation |
BEFREE |
We successfully treated a BRAF V600E-mutated anaplastic oligoastrocytoma with multiple extraneural metastases with vemurafenib and everolimus.
|
30462564 |
2019 |
|
rs113488022
|
|
|
0.100 |
GeneticVariation |
BEFREE |
NRAS mutant/BRAF wild type metastatic deposits were identified in three patients, with one patient having a BRAF V600E mutant metastatic tumour.
|
31023480 |
2019 |
|
rs113488022
|
|
|
0.100 |
GeneticVariation |
BEFREE |
After controlling for the effect of MS status, there was no correlation of RNF43 frameshift mutation with distant metastasis (OR = 1.57 [0.75, 3.28]) and advanced TNM stages (OR = 0.98 [0.58, 1.67]), but RNF43 frameshift mutations still occur more frequently in right colon (OR = 2.58 [1.49, 4.47]) and with BRAF V600E mutation (OR = 1.94 [1.22, 3.10]).
|
31122752 |
2019 |
|
rs121913377
|
|
|
0.100 |
GeneticVariation |
BEFREE |
In conclusion, there is no prognostic value of BRAF V600E mutation on overall survival in stage I-III melanoma patients, yet its presence might indicate a decreased risk for development of relapse and/or metastasis in stage III melanoma patients.
|
31058533 |
2019 |
|
rs121913377
|
|
|
0.100 |
GeneticVariation |
BEFREE |
NRAS mutant/BRAF wild type metastatic deposits were identified in three patients, with one patient having a BRAF V600E mutant metastatic tumour.
|
31023480 |
2019 |
|
rs121913377
|
|
|
0.100 |
GeneticVariation |
BEFREE |
After controlling for the effect of MS status, there was no correlation of RNF43 frameshift mutation with distant metastasis (OR = 1.57 [0.75, 3.28]) and advanced TNM stages (OR = 0.98 [0.58, 1.67]), but RNF43 frameshift mutations still occur more frequently in right colon (OR = 2.58 [1.49, 4.47]) and with BRAF V600E mutation (OR = 1.94 [1.22, 3.10]).
|
31122752 |
2019 |
|
rs121913377
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Interestingly, by droplet digital PCR, the V600E mutation was also detected in the first primary, and the V600K in the second primary and metastases.
|
30222690 |
2019 |
|
rs121913377
|
|
|
0.100 |
GeneticVariation |
BEFREE |
One case in a 6-year-old male was morphologically similar to the BRAF V600E mutation-positive adult cases and subsequently metastasized to the lungs; remarkably, the metastases then completely resolved on Braf targeted therapy.
|
31192863 |
2019 |
|
rs121913377
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Associations between BRAF V600E and TERT promoter mutations and clinicopathological features, Tumor-Node-Metastasis stage, initial risk, response to therapy, follow-up, and final disease outcome were assessed according to American Thyroid Association 2015 criteria and the American Joint Committee on Cancer/Tumor-Node-Metastasis (8th edition) staging system.Median follow-up was 120 months.
|
31305897 |
2019 |