Cardio-facio-cutaneous syndrome
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Germline BRAF mutations in Noonan, LEOPARD, and cardiofaciocutaneous syndromes: molecular diversity and associated phenotypic spectrum.
|
19206169 |
2009 |
Cardio-facio-cutaneous syndrome
|
|
0.800 |
CausalMutation
|
CLINVAR |
Mutation and phenotypic spectrum in patients with cardio-facio-cutaneous and Costello syndrome.
|
18042262 |
2008 |
Cardio-facio-cutaneous syndrome
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Mutation and phenotypic spectrum in patients with cardio-facio-cutaneous and Costello syndrome.
|
18042262 |
2008 |
Cardio-facio-cutaneous syndrome
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome.
|
16474404 |
2006 |
Cardio-facio-cutaneous syndrome
|
|
0.800 |
CausalMutation
|
CLINVAR |
Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome.
|
16474404 |
2006 |
Cardio-facio-cutaneous syndrome
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Germline mutations in genes within the MAPK pathway cause cardio-facio-cutaneous syndrome.
|
16439621 |
2006 |
Lymphoma, Non-Hodgkin, Familial
|
|
0.800 |
GeneticVariation
|
UNIPROT |
BRAF mutations in non-Hodgkin's lymphoma.
|
14612909 |
2003 |
Lymphoma, Non-Hodgkin, Familial
|
|
0.800 |
CausalMutation
|
CLINVAR |
|
|
|
Neoplasms
|
|
0.730 |
GeneticVariation
|
BEFREE |
One tumor demonstrated a BRAF G469A mutation in exon 11, and in a second case, a KRAS Q61K double base mutation in exon 3 was detected.
|
26362194 |
2015 |
Neoplasms
|
|
0.730 |
GeneticVariation
|
CLINVAR |
Prospective enterprise-level molecular genotyping of a cohort of cancer patients.
|
25157968 |
2014 |
Neoplasms
|
|
0.730 |
GeneticVariation
|
BEFREE |
All V600E BRAF-mutated tumors were negative for other driver gene alterations including epidermal growth factor receptor (EGFR) and KRAS mutations and the anaplastic lymphoma kinase gene translocation, whereas five tumors with non-V600E BRAF mutations (four G469A and one G464E/G466R) showed concomitant EGFR mutations.
|
24297085 |
2014 |
Neoplasms
|
|
0.730 |
GeneticVariation
|
BEFREE |
DNA extracted from the tumor identified a BRAF V600E mutation in exon 15 and a BRAF G468A mutation in exon 11, whereas DNA from non-tumorous cells did not contain a mutation.
|
22192803 |
2012 |
Neoplasms
|
|
0.730 |
GeneticVariation
|
CLINVAR |
Mechanism of activation of the RAF-ERK signaling pathway by oncogenic mutations of B-RAF.
|
15035987 |
2004 |
Non-Small Cell Lung Carcinoma
|
|
0.720 |
GeneticVariation
|
BEFREE |
Acquired BRAF G469A Mutation as a Resistance Mechanism to First-Line Osimertinib Treatment in NSCLC Cell Lines Harboring an EGFR Exon 19 Deletion.
|
31502118 |
2019 |
Non-Small Cell Lung Carcinoma
|
|
0.720 |
GeneticVariation
|
BEFREE |
A molecular characterization of NSCLC and HCC lesions was performed, revealing a BRAF exon 11 mutation (G469V) only in NSCLC.
|
27388325 |
2016 |
Non-Small Cell Lung Carcinoma
|
|
0.720 |
CausalMutation
|
CLINVAR |
Mutations of the BRAF gene in human cancer.
|
12068308 |
2002 |
Non-Small Cell Lung Carcinoma
|
|
0.720 |
CausalMutation
|
CLINVAR |
Mutations of the BRAF gene in human cancer.
|
12068308 |
2002 |
melanoma
|
|
0.710 |
GeneticVariation
|
CLINVAR |
Prospective enterprise-level molecular genotyping of a cohort of cancer patients.
|
25157968 |
2014 |
melanoma
|
|
0.710 |
GeneticVariation
|
BEFREE |
These G469E- and D594G-mutated melanomas were found to exhibit constitutive levels of phospho-extracellular signal-regulated kinase (pERK) and low levels of phospho-mitogen-activated protein kinase/ERK kinase (pMEK) and were resistant to MEK inhibition.
|
18794803 |
2009 |
melanoma
|
|
0.710 |
GeneticVariation
|
CLINVAR |
These G469E- and D594G-mutated melanomas were found to exhibit constitutive levels of phospho-extracellular signal-regulated kinase (pERK) and low levels of phospho-mitogen-activated protein kinase/ERK kinase (pMEK) and were resistant to MEK inhibition.
|
18794803 |
2009 |
Squamous cell carcinoma of lung
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.
|
26619011 |
2016 |
Adenocarcinoma of lung (disorder)
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.
|
26619011 |
2016 |
Cutaneous Melanoma
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.
|
26619011 |
2016 |
Multiple Myeloma
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.
|
26619011 |
2016 |
Adenocarcinoma of prostate
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.
|
26619011 |
2016 |