×
Entrez Id:
673
Gene Symbol:
BRAF
BRAF
0.770
GeneticVariation
disease
BEFREE
Cardiofaciocutaneous syndrome (CFCS) is a rare developmental disorder that is phenotypically similar to Noonan syndrome and is associated with mutations in BRAF , MEK1, MEK2, and KRAS.
31125963
2019
×
Entrez Id:
673
Gene Symbol:
BRAF
BRAF
0.770
GeneticVariation
disease
BEFREE
TS/WES revealed three mutations in the PTPN11 gene, three mutations in RAF1 gene, and four mutations in BRAF gene in the NS and NSML patients who were previously diagnosed based on the abovementioned clinical features.
29084544
2017
×
Entrez Id:
673
Gene Symbol:
BRAF
BRAF
0.770
CausalMutation
disease
CLINVAR
Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.
26619011
2016
×
Entrez Id:
673
Gene Symbol:
BRAF
BRAF
0.770
Biomarker
disease
CLINGEN
Ocular Manifestations of Noonan Syndrome: A Prospective Clinical and Genetic Study of 25 Patients.
27521173
2016
×
Entrez Id:
673
Gene Symbol:
BRAF
BRAF
0.770
CausalMutation
disease
CLINVAR
Diagnosis of Noonan syndrome and related disorders using target next generation sequencing.
24451042
2014
×
Entrez Id:
673
Gene Symbol:
BRAF
BRAF
0.770
CausalMutation
disease
CLINVAR
Structure-energy-based predictions and network modelling of RASopathy and cancer missense mutations.
24803665
2014
×
Entrez Id:
673
Gene Symbol:
BRAF
BRAF
0.770
GeneticVariation
disease
BEFREE
We screened GCTBs for mutations in PTPN11 and BRAF to determine whether GCTBs develop through alterations of genes involved in Noonan syndrome .MSC were isolated from 10 GCTBs.
22725657
2013
×
Entrez Id:
673
Gene Symbol:
BRAF
BRAF
0.770
Biomarker
disease
CLINGEN
The RASopathies.
23875798
2013
×
Entrez Id:
673
Gene Symbol:
BRAF
BRAF
0.770
CausalMutation
disease
CLINVAR
Immunohistochemistry is highly sensitive and specific for the detection of V600E BRAF mutation in melanoma.
23026937
2013
×
Entrez Id:
673
Gene Symbol:
BRAF
BRAF
0.770
GeneticVariation
disease
BEFREE
Genetic analysis revealed individual heterozygous mutations in the KRAS (phenotype of CFC/Noonan syndrome ) and BRAF genes (phenotype of CFC syndrome).
21871821
2012
×
Entrez Id:
673
Gene Symbol:
BRAF
BRAF
0.770
CausalMutation
disease
CLINVAR
The intermediate-activity (L597V)BRAF mutant acts as an epistatic modifier of oncogenic RAS by enhancing signaling through the RAF/MEK/ERK pathway.
22892241
2012
×
Entrez Id:
673
Gene Symbol:
BRAF
BRAF
0.770
Biomarker
disease
BEFREE
Increased BRAF heterodimerization is the common pathogenic mechanism for noonan syndrome -associated RAF1 mutants.
22826437
2012
×
Entrez Id:
673
Gene Symbol:
BRAF
BRAF
0.770
CausalMutation
disease
CLINVAR
A structural systems biology approach for quantifying the systemic consequences of missense mutations in proteins.
23093928
2012
×
Entrez Id:
673
Gene Symbol:
BRAF
BRAF
0.770
CausalMutation
disease
CLINVAR
Prevalence and clinical features of Costello syndrome and cardio-facio-cutaneous syndrome in Japan: findings from a nationwide epidemiological survey.
22495831
2012
×
Entrez Id:
673
Gene Symbol:
BRAF
BRAF
0.770
GeneticVariation
disease
BEFREE
PTPN11 (39.0%), SOS1 (20.3%), RAF1 (6.8%), KRAS (5.1%), and BRAF (1.7%) mutations were identified in NS ; BRAF (41.2%), SHOC2 (23.5%), and MEK1 (5.9%) mutations in cardiofaciocutaneous syndrome; and HRAS and PTPN11 mutations in Costello syndrome and LEOPARD syndrome, respectively.
21784453
2011
×
Entrez Id:
673
Gene Symbol:
BRAF
BRAF
0.770
Biomarker
disease
CLINGEN
PTPN11 (39.0%), SOS1 (20.3%), RAF1 (6.8%), KRAS (5.1%), and BRAF (1.7%) mutations were identified in NS ; BRAF (41.2%), SHOC2 (23.5%), and MEK1 (5.9%) mutations in cardiofaciocutaneous syndrome; and HRAS and PTPN11 mutations in Costello syndrome and LEOPARD syndrome, respectively.
21784453
2011
×
Entrez Id:
673
Gene Symbol:
BRAF
BRAF
0.770
CausalMutation
disease
CLINVAR
Non-hodgkin lymphoma in a patient with cardiofaciocutaneous syndrome.
20523244
2011
×
Entrez Id:
673
Gene Symbol:
BRAF
BRAF
0.770
Biomarker
disease
GENOMICS_ENGLAND
Noonan syndrome and clinically related disorders.
21396583
2011
×
Entrez Id:
673
Gene Symbol:
BRAF
BRAF
0.770
CausalMutation
disease
CLINVAR
Kinase-activating and kinase-impaired cardio-facio-cutaneous syndrome alleles have activity during zebrafish development and are sensitive to small molecule inhibitors.
19376813
2009
×
Entrez Id:
673
Gene Symbol:
BRAF
BRAF
0.770
CausalMutation
disease
CLINVAR
Germline BRAF mutations in Noonan, LEOPARD, and cardiofaciocutaneous syndromes: molecular diversity and associated phenotypic spectrum.
19206169
2009
×
Entrez Id:
673
Gene Symbol:
BRAF
BRAF
0.770
Biomarker
disease
GENOMICS_ENGLAND
Germline BRAF mutations in Noonan, LEOPARD, and cardiofaciocutaneous syndromes: molecular diversity and associated phenotypic spectrum.
19206169
2009
×
Entrez Id:
673
Gene Symbol:
BRAF
BRAF
0.770
Biomarker
disease
CLINGEN
Germline BRAF mutations in Noonan, LEOPARD, and cardiofaciocutaneous syndromes: molecular diversity and associated phenotypic spectrum.
19206169
2009
×
Entrez Id:
673
Gene Symbol:
BRAF
BRAF
0.770
GermlineCausalMutation
disease
ORPHANET
Germline BRAF mutations in Noonan, LEOPARD, and cardiofaciocutaneous syndromes: molecular diversity and associated phenotypic spectrum.
19206169
2009
×
Entrez Id:
673
Gene Symbol:
BRAF
BRAF
0.770
Biomarker
disease
BEFREE
We thus suggest involvement of BRAF in the pathogenesis of NS also.
18456719
2008
×
Entrez Id:
673
Gene Symbol:
BRAF
BRAF
0.770
GeneticVariation
disease
CLINVAR
Biochemical characterization of novel germline BRAF and MEK mutations in cardio-facio-cutaneous syndrome.
18413255
2008