Gene: BRAF
Alternate names for this Gene: B-RAF1|B-raf|BRAF1|NS7|RAFB1
Gene Summary: This gene encodes a protein belonging to the RAF family of serine/threonine protein kinases. This protein plays a role in regulating the MAP kinase/ERK signaling pathway, which affects cell division, differentiation, and secretion. Mutations in this gene, most commonly the V600E mutation, are the most frequently identified cancer-causing mutations in melanoma, and have been identified in various other cancers as well, including non-Hodgkin lymphoma, colorectal cancer, thyroid carcinoma, non-small cell lung carcinoma, hairy cell leukemia and adenocarcinoma of lung. Mutations in this gene are also associated with cardiofaciocutaneous, Noonan, and Costello syndromes, which exhibit overlapping phenotypes. A pseudogene of this gene has been identified on the X chromosome.
Gene is located in Chromosome: 7
Location in Chromosome : 7q34
Description of this Gene: B-Raf proto-oncogene, serine/threonine kinase
Type of Gene: protein-coding
rs113488022 in
BRAF gene and
Adenocarcinoma of lung (disorder)
PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.
PMID 25157968 2014 Prospective enterprise-level molecular genotyping of a cohort of cancer patients.
PMID 22773810 2012 Lung cancers with acquired resistance to EGFR inhibitors occasionally harbor BRAF gene mutations but lack mutations in KRAS, NRAS, or MEK1.
rs121913355 in
BRAF gene and
Adenocarcinoma of prostate
PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.
rs121913338 in
BRAF gene and
Adrenocortical carcinoma
PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.
rs113488022 in
BRAF gene and
Arteriovenous Malformations, Cerebral
PMID 31891627 2019 Somatic mutations in intracranial arteriovenous malformations.
rs180177038 in
BRAF gene and
Asphyxia Neonatorum
PMID 19206169 2009 Germline BRAF mutations in Noonan, LEOPARD, and cardiofaciocutaneous syndromes: molecular diversity and associated phenotypic spectrum.
PMID 16439621 2006 Germline mutations in genes within the MAPK pathway cause cardio-facio-cutaneous syndrome.
PMID 16474404 2006 Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome.
rs113488022 in
BRAF gene and
Brain Neoplasms
PMID 22586120 2012 Cooperative interactions of BRAFV600E kinase and CDKN2A locus deficiency in pediatric malignant astrocytoma as a basis for rational therapy.
PMID 22038996 2011 Targeted therapy for BRAFV600E malignant astrocytoma.
PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.
rs113488022 in
BRAF gene and
Brain Stem Glioma
PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.
rs1057519719 in
BRAF gene and
Carcinoma of lung
PMID 22649091 2012 Kinase-impaired BRAF mutations in lung cancer confer sensitivity to dasatinib.
PMID 21483012 2011 Clinical characteristics of patients with lung adenocarcinomas harboring BRAF mutations.
PMID 19238210 2009 Alterations in genes of the EGFR signaling pathway and their relationship to EGFR tyrosine kinase inhibitor sensitivity in lung cancer cell lines.
PMID 19010912 2008 Genetic predictors of MEK dependence in non-small cell lung cancer.
PMID 12460918 2002 BRAF and RAS mutations in human lung cancer and melanoma.
PMID 23833300 2013 Clinical, pathologic, and biologic features associated with BRAF mutations in non-small cell lung cancer.
PMID 12460919 2002 Missense mutations of the BRAF gene in human lung adenocarcinoma.
PMID 12068308 2002 Mutations of the BRAF gene in human cancer.
PMID 24035431 2013 Lung adenocarcinoma with BRAF G469L mutation refractory to vemurafenib.
PMID 22773810 2012 Lung cancers with acquired resistance to EGFR inhibitors occasionally harbor BRAF gene mutations but lack mutations in KRAS, NRAS, or MEK1.
PMID 22743296 2012 A patient with BRAF V600E lung adenocarcinoma responding to vemurafenib.
PMID 23524406 2013 Molecular characterization of acquired resistance to the BRAF inhibitor dabrafenib in a patient with BRAF-mutant non-small-cell lung cancer.
PMID 21483012 2011 The incidence of BRAF mutations other than V600E is significantly higher in lung cancer than in melanoma.
PMID 22608338 2012 Dabrafenib in patients with melanoma, untreated brain metastases, and other solid tumours: a phase 1 dose-escalation trial.
PMID 25311215 2014 Molecular testing for selection of patients with lung cancer for epidermal growth factor receptor and anaplastic lymphoma kinase tyrosine kinase inhibitors: American Society of Clinical Oncology endorsement of the College of American Pathologists/International Association for the study of lung cancer/association for molecular pathology guideline.
PMID 23667368 2013 Guideline Recommendations for EGFR Mutation Testing in Lung Cancer: Proposal of the Korean Cardiopulmonary Pathology Study Group.
PMID 24846033 2014 Non-small cell lung cancer and precision medicine: a model for the incorporation of genomic features into clinical trial design.
PMID 23562183 2013 Molecular testing guideline for selection of lung cancer patients for EGFR and ALK tyrosine kinase inhibitors: guideline from the College of American Pathologists, International Association for the Study of Lung Cancer, and Association for Molecular Pathology.
PMID 24627688 2014 Guideline Recommendations for Testing of ALK Gene Rearrangement in Lung Cancer: A Proposal of the Korean Cardiopulmonary Pathology Study Group.
PMID 22798288 2012 BRAF(L597) mutations in melanoma are associated with sensitivity to MEK inhibitors.
rs121913341 in
BRAF gene and
Cardio-facio-cutaneous syndrome
PMID 16439621 2006 Germline mutations in genes within the MAPK pathway cause cardio-facio-cutaneous syndrome.
PMID 16474404 2006 Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome.
PMID 18042262 2008 Mutation and phenotypic spectrum in patients with cardio-facio-cutaneous and Costello syndrome.
PMID 19206169 2009 Germline BRAF mutations in Noonan, LEOPARD, and cardiofaciocutaneous syndromes: molecular diversity and associated phenotypic spectrum.
PMID 23093928 2012 A structural systems biology approach for quantifying the systemic consequences of missense mutations in proteins.
PMID 18060073 2007 Mutation analysis of BRAF, MEK1 and MEK2 in 15 ovarian cancer cell lines: implications for therapy.
PMID 12692057 2003 Mutations of the BRAF gene in cholangiocarcinoma but not in hepatocellular carcinoma.
PMID 18413255 2008 Biochemical characterization of novel germline BRAF and MEK mutations in cardio-facio-cutaneous syndrome.
PMID 17704260 2007 Cardio-facio-cutaneous and Noonan syndromes due to mutations in the RAS/MAPK signalling pathway: genotype-phenotype relationships and overlap with Costello syndrome.
PMID 23026937 2013 Immunohistochemistry is highly sensitive and specific for the detection of V600E BRAF mutation in melanoma.
PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.
PMID 16953233 2007 KRAS and BRAF oncogenic mutations in MSS colorectal carcinoma progression.
PMID 15035987 2004 Mechanism of activation of the RAF-ERK signaling pathway by oncogenic mutations of B-RAF.
PMID 22892241 2012 The intermediate-activity (L597V)BRAF mutant acts as an epistatic modifier of oncogenic RAS by enhancing signaling through the RAF/MEK/ERK pathway.
PMID 25173338 2014 2014 ESC Guidelines on diagnosis and management of hypertrophic cardiomyopathy: the Task Force for the Diagnosis and Management of Hypertrophic Cardiomyopathy of the European Society of Cardiology (ESC).
PMID 18456719 2008 Noonan and cardio-facio-cutaneous syndromes: two clinically and genetically overlapping disorders.
PMID 20523244 2011 Sequencing analysis showed a germline p.A246P (c.736G>C) mutation in BRAF reported earlier in CFC syndrome.
PMID 25035421 2014 To define the pathogenesis and to develop a potential therapeutic approach in CFC syndrome, we here generated new knockin mice (here Braf(Q241R/+)) expressing the Braf Q241R mutation, which corresponds to the most frequent mutation in CFC syndrome, Q257R.
PMID 17703371 2007 We report the case of a 4-year-old girl who presented a CFC syndrome, confirmed by the presence of a pathogenic R257Q BRAF gene mutation, together with a muscular CoQ10 deficiency.
PMID 19376813 2009 Kinase-activating and kinase-impaired cardio-facio-cutaneous syndrome alleles have activity during zebrafish development and are sensitive to small molecule inhibitors.
PMID 17366577 2007 Molecular and clinical characterization of cardio-facio-cutaneous (CFC) syndrome: overlapping clinical manifestations with Costello syndrome.
PMID 21784453 2011 Spectrum of mutations in Noonan syndrome and their correlation with phenotypes.
PMID 22495831 2012 Prevalence and clinical features of Costello syndrome and cardio-facio-cutaneous syndrome in Japan: findings from a nationwide epidemiological survey.
PMID 17551924 2007 Further delineation of the phenotype resulting from BRAF or MEK1 germline mutations helps differentiate cardio-facio-cutaneous syndrome from Costello syndrome.
PMID 18854871 2009 Multiple giant cell lesions in patients with Noonan syndrome and cardio-facio-cutaneous syndrome.
PMID 22301711 2012 Continual low-level MEK inhibition ameliorates cardio-facio-cutaneous phenotypes in zebrafish.
PMID 24719372 2014 The perinatal presentation of cardiofaciocutaneous syndrome.
PMID 24409384 2013 Single-molecule force measurement via optical tweezers reveals different kinetic features of two BRaf mutants responsible for cardio-facial-cutaneous (CFC) syndrome.
PMID 24775816 2013 LEOPARD syndrome: a variant of Noonan syndrome strongly associated with hypertrophic cardiomyopathy.
PMID 18953432 2008 p16INK4a expression and absence of activated B-RAF are independent predictors of chemosensitivity in melanoma tumors.
PMID 18039235 2007 Neurological complications of cardio-facio-cutaneous syndrome.
PMID 17603482 2007 Germline gain-of-function mutations in RAF1 cause Noonan syndrome.
PMID 22876591 2012 In this case report, we present a male CFCS patient with tight Achilles tendons with a de-novo heterozygote N581D mutation in the BRAF gene detected by DNA sequence analysis.
PMID 20186801 2010 Effects of germline mutations in the Ras/MAPK signaling pathway on adaptive behavior: cardiofaciocutaneous syndrome and Noonan syndrome.
PMID 24037001 2013 Tegumentary manifestations of Noonan and Noonan-related syndromes.
PMID 18470943 2008 The RAS/MAPK syndromes: novel roles of the RAS pathway in human genetic disorders.
PMID 16804887 2006 Distinguishing Costello versus cardio-facio-cutaneous syndrome: BRAF mutations in patients with a Costello phenotype.
PMID 21063443 2011 Mitochondrial dysfunction and organic aciduria in five patients carrying mutations in the Ras-MAPK pathway.
PMID 19416762 2009 We speculate that the impact of p.L245F on BRAF protein function differs either qualitatively or quantitatively from those mutations associated with CFCS.
PMID 18451217 2008 Epigenetic-genetic interactions in the APC/WNT, RAS/RAF, and P53 pathways in colorectal carcinoma.
PMID 17496923 2007 Targeting the Raf-MEK-ERK mitogen-activated protein kinase cascade for the treatment of cancer.
PMID 21871821 2012 Epilepsy in RAS/MAPK syndrome: two cases of cardio-facio-cutaneous syndrome with epileptic encephalopathy and a literature review.
PMID 20395089 2011 A girl with cardio-facio-cutaneous (CFC) syndrome due to a BRAF gene mutation (c.1454T→C, p.L485S) experienced repetitive epileptic spasms at the corrected age of 4 months.
PMID 24451042 2014 Diagnosis of Noonan syndrome and related disorders using target next generation sequencing.
rs180177035 in
BRAF gene and
Central hypotonia
PMID 16474404 2006 Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome.
PMID 16439621 2006 Germline mutations in genes within the MAPK pathway cause cardio-facio-cutaneous syndrome.
rs121913338 in
BRAF gene and
Chronic Lymphocytic Leukemia
PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.
PMID 25157968 2014 Prospective enterprise-level molecular genotyping of a cohort of cancer patients.
PMID 18060073 2007 Mutation analysis of BRAF, MEK1 and MEK2 in 15 ovarian cancer cell lines: implications for therapy.
rs113488022 in
BRAF gene and
Colonic Neoplasms
PMID 25157968 2014 Prospective enterprise-level molecular genotyping of a cohort of cancer patients.
PMID 22281684 2012 To investigate the cause of the limited therapeutic effect of PLX4032 in BRAF(V600E) mutant colon tumours, here we performed an RNA-interference-based genetic screen in human cells to search for kinases whose knockdown synergizes with BRAF(V600E) inhibition.
rs113488022 in
BRAF gene and
Colorectal Carcinoma
PMID 25373533 2015 Updated guidelines for biomarker testing in colorectal carcinoma: a national consensus of the Spanish Society of Pathology and the Spanish Society of Medical Oncology.
PMID 23852704 2014 Tumor markers in colorectal cancer, gastric cancer and gastrointestinal stromal cancers: European group on tumor markers 2014 guidelines update.
PMID 23012255 2012 ESMO Consensus Guidelines for management of patients with colon and rectal cancer. a personalized approach to clinical decision making.
PMID 24996433 2014 RAS testing of colorectal carcinoma—a guidance document from the Association of Clinical Pathologists Molecular Pathology and Diagnostics Group.
PMID 23429431 2013 Recommendations from the EGAPP Working Group: can testing of tumor tissue for mutations in EGFR pathway downstream effector genes in patients with metastatic colorectal cancer improve health outcomes by guiding decisions regarding anti-EGFR therapy?
PMID 25006736 2014 Multitarget stool DNA testing for colorectal-cancer screening.
PMID 17060676 2006 ASCO 2006 update of recommendations for the use of tumor markers in gastrointestinal cancer.
PMID 22138009 2011 NCCN Task Force report: Evaluating the clinical utility of tumor markers in oncology.
PMID 19042984 2008 National Academy of Clinical Biochemistry laboratory medicine practice guidelines for use of tumor markers in testicular, prostate, colorectal, breast, and ovarian cancers.
PMID 22855150 2012 Guidelines for biomarker testing in colorectal carcinoma (CRC): a national consensus of the Spanish Society of Pathology (SEAP) and the Spanish Society of Medical Oncology (SEOM).
PMID 21917714 2011 Protein arginine methyltransferase 5 regulates ERK1/2 signal transduction amplitude and cell fate through CRAF.
PMID 23263490 2013 Germline mutations affecting the proofreading domains of POLE and POLD1 predispose to colorectal adenomas and carcinomas.
PMID 24455489 2014 Evidence That GRIN2A Mutations in Melanoma Correlate with Decreased Survival.
PMID 12198537 2002 Tumorigenesis: RAF/RAS oncogenes and mismatch-repair status.
rs113488022 in
BRAF gene and
Colorectal Neoplasms
PMID 12068308 2002 Mutations of the BRAF gene in human cancer.
PMID 23251002 2013 Resistance to BRAF inhibition in BRAF-mutant colon cancer can be overcome with PI3K inhibition or demethylating agents.
PMID 23549875 2013 Concomitant BRAF and PI3K/mTOR blockade is required for effective treatment of BRAF(V600E) colorectal cancer.
PMID 19001320 2008 Wild-type BRAF is required for response to panitumumab or cetuximab in metastatic colorectal cancer.
PMID 20413299 2010 Markers for EGFR pathway activation as predictor of outcome in metastatic colorectal cancer patients treated with or without cetuximab.
PMID 20857202 2011 BRAF V600E mutation and resistance to anti-EGFR monoclonal antibodies in patients with metastatic colorectal cancer: a meta-analysis.
PMID 22448344 2012 EGFR-mediated re-activation of MAPK signaling contributes to insensitivity of BRAF mutant colorectal cancers to RAF inhibition with vemurafenib.
PMID 21426297 2011 BRAF as a target for cancer therapy.
PMID 22608338 2012 Dabrafenib in patients with melanoma, untreated brain metastases, and other solid tumours: a phase 1 dose-escalation trial.
PMID 20350999 2010 Prognostic and predictive biomarkers in resected colon cancer: current status and future perspectives for integrating genomics into biomarker discovery.
PMID 21129611 2010 Prognostic vs predictive molecular biomarkers in colorectal cancer: is KRAS and BRAF wild type status required for anti-EGFR therapy?
PMID 23845441 2013 A genetic progression model of Braf(V600E)-induced intestinal tumorigenesis reveals targets for therapeutic intervention.
PMID 23325582 2013 Massively parallel tumor multigene sequencing to evaluate response to panitumumab in a randomized phase III study of metastatic colorectal cancer.
PMID 22180495 2012 Antitumor activity of BRAF inhibitor vemurafenib in preclinical models of BRAF-mutant colorectal cancer.
PMID 23812671 2013 Vemurafenib synergizes with nutlin-3 to deplete survivin and suppresses melanoma viability and tumor growth.
PMID 24107445 2013 Our findings indicated that proteasome inhibition might represent a valuable targeting strategy in BRAF V600E-mutant colorectal tumors.
PMID 21163703 2011 KRAS, BRAF, PIK3CA, and PTEN mutations: implications for targeted therapies in metastatic colorectal cancer.
PMID 24163374 2014 mTOR inhibition specifically sensitizes colorectal cancers with KRAS or BRAF mutations to BCL-2/BCL-XL inhibition by suppressing MCL-1.
PMID 22281684 2012 Unresponsiveness of colon cancer to BRAF(V600E) inhibition through feedback activation of EGFR.
PMID 20619739 2010 Effects of KRAS, BRAF, NRAS, and PIK3CA mutations on the efficacy of cetuximab plus chemotherapy in chemotherapy-refractory metastatic colorectal cancer: a retrospective consortium analysis.
PMID 19537845 2009 Clinical biomarkers in oncology: focus on colorectal cancer.
PMID 25989278 2015 Meta-analysis of BRAF mutation as a predictive biomarker of benefit from anti-EGFR monoclonal antibody therapy for RAS wild-type metastatic colorectal cancer.
PMID 24594804 2014 BRAFV600E mutation and its association with clinicopathological features of colorectal cancer: a systematic review and meta-analysis.
PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.
PMID 25157968 2014 Prospective enterprise-level molecular genotyping of a cohort of cancer patients.
PMID 22310681 2012 The road to resistance: EGFR mutation and cetuximab.
PMID 18186519 2008 Rapid identification of somatic mutations in colorectal and breast cancer tissues using mismatch repair detection (MRD).
PMID 19794125 2009 Alterations of BRAF and HIPK2 loci predominate in sporadic pilocytic astrocytoma.
PMID 21343559 2011 Prognostic and clinicopathologic associations of oncogenic BRAF in metastatic melanoma.
PMID 19363522 2009 Oncogenic RAF1 rearrangement and a novel BRAF mutation as alternatives to KIAA1549:BRAF fusion in activating the MAPK pathway in pilocytic astrocytoma.
PMID 21190184 2011 Functional characterization of a BRAF insertion mutant associated with pilocytic astrocytoma.
PMID 21716161 2011 BRAF, p53 and SOX2 in anaplastic thyroid carcinoma: evidence for multistep carcinogenesis.
PMID 22535154 2012 Distinguishing clinicopathologic features of patients with V600E and V600K BRAF-mutant metastatic melanoma.
rs121913348 in
BRAF gene and
Curly hair (finding)
PMID 18413255 2008 Biochemical characterization of novel germline BRAF and MEK mutations in cardio-facio-cutaneous syndrome.
rs113488022 in
BRAF gene and
Cutaneous Melanoma
PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.
rs180177035 in
BRAF gene and
Depressed nasal bridge
PMID 16439621 2006 Germline mutations in genes within the MAPK pathway cause cardio-facio-cutaneous syndrome.
PMID 16474404 2006 Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome.
rs121913348 in
BRAF gene and
Developmental delay (disorder)
PMID 18413255 2008 Biochemical characterization of novel germline BRAF and MEK mutations in cardio-facio-cutaneous syndrome.
PMID 16474404 2006 Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome.
PMID 16439621 2006 Germline mutations in genes within the MAPK pathway cause cardio-facio-cutaneous syndrome.
PMID 17704260 2007 Cardio-facio-cutaneous and Noonan syndromes due to mutations in the RAS/MAPK signalling pathway: genotype-phenotype relationships and overlap with Costello syndrome.
PMID 17366577 2007 Molecular and clinical characterization of cardio-facio-cutaneous (CFC) syndrome: overlapping clinical manifestations with Costello syndrome.
rs9648716 in
BRAF gene and
Diabetes Mellitus, Non-Insulin-Dependent
PMID 28869590 2017 Identification of new susceptibility loci for type 2 diabetes and shared etiological pathways with coronary heart disease.
rs121913348 in
BRAF gene and
Diminished sweating
PMID 18413255 2008 Biochemical characterization of novel germline BRAF and MEK mutations in cardio-facio-cutaneous syndrome.
rs180177035 in
BRAF gene and
Downward slant of palpebral fissure
PMID 16439621 2006 Germline mutations in genes within the MAPK pathway cause cardio-facio-cutaneous syndrome.
PMID 16474404 2006 Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome.
rs180177035 in
BRAF gene and
Dysmorphic features
PMID 5771505 1969 Multiple lentigenes syndrome.
PMID 4386970 1968 Hypertelorism with Turner phenotype. A new syndrome with associated congenital heart disease.
PMID 19206169 2009 Germline BRAF mutations in Noonan, LEOPARD, and cardiofaciocutaneous syndromes: molecular diversity and associated phenotypic spectrum.
PMID 16474404 2006 Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome.
PMID 16439621 2006 Germline mutations in genes within the MAPK pathway cause cardio-facio-cutaneous syndrome.
PMID 18413255 2008 Biochemical characterization of novel germline BRAF and MEK mutations in cardio-facio-cutaneous syndrome.
PMID 16825433 2006 The cardiofaciocutaneous syndrome.
PMID 18039235 2007 Neurological complications of cardio-facio-cutaneous syndrome.
PMID 16523510 2006 LEOPARD syndrome: clinical diagnosis in the first year of life.
PMID 23875798 2013 The RASopathies.
rs121913364 in
BRAF gene and
Gastric Adenocarcinoma
PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.
rs113488022 in
BRAF gene and
Gastrointestinal Stromal Tumors
PMID 20818844 2010 Inhibition of mutated, activated BRAF in metastatic melanoma.
PMID 21639808 2011 Improved survival with vemurafenib in melanoma with BRAF V600E mutation.
PMID 23470635 2013 We report prolonged antitumor activity in the first patient with V600E BRAF-mutated GIST who was treated with a BRAF inhibitor.
PMID 12068308 2002 Mutations of the BRAF gene in human cancer.
PMID 22608338 2012 Dabrafenib in patients with melanoma, untreated brain metastases, and other solid tumours: a phase 1 dose-escalation trial.
PMID 19561230 2009 BRAF mutations (V600E) were detected in 2 of 28 wild-type GISTs (7%), but in none of the 41 KIT/PDGFRA mutants.No KRAS mutation was detected.
rs113488022 in
BRAF gene and
Glioblastoma
PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.
rs180177038 in
BRAF gene and
Global developmental delay
PMID 16439621 2006 Germline mutations in genes within the MAPK pathway cause cardio-facio-cutaneous syndrome.
PMID 19206169 2009 Germline BRAF mutations in Noonan, LEOPARD, and cardiofaciocutaneous syndromes: molecular diversity and associated phenotypic spectrum.
PMID 16474404 2006 Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome.
PMID 18042262 2008 Mutation and phenotypic spectrum in patients with cardio-facio-cutaneous and Costello syndrome.
rs180177035 in
BRAF gene and
High, narrow palate
PMID 16474404 2006 Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome.
PMID 16439621 2006 Germline mutations in genes within the MAPK pathway cause cardio-facio-cutaneous syndrome.
rs180177035 in
BRAF gene and
Hypertrophic Cardiomyopathy
PMID 16439621 2006 Germline mutations in genes within the MAPK pathway cause cardio-facio-cutaneous syndrome.
PMID 16474404 2006 Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome.
rs180177035 in
BRAF gene and
Hypoplasia of corpus callosum
PMID 16474404 2006 Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome.
PMID 16439621 2006 Germline mutations in genes within the MAPK pathway cause cardio-facio-cutaneous syndrome.
rs121913348 in
BRAF gene and
Increased tendency to bruise
PMID 18413255 2008 Biochemical characterization of novel germline BRAF and MEK mutations in cardio-facio-cutaneous syndrome.
rs35407685 in
BRAF gene and
Influenza due to Influenza A virus subtype H1N1
PMID 26379185 2015 No Major Host Genetic Risk Factor Contributed to A(H1N1)2009 Influenza Severity.
rs180177035 in
BRAF gene and
Intellectual Disability
PMID 16474404 2006 Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome.
PMID 16439621 2006 Germline mutations in genes within the MAPK pathway cause cardio-facio-cutaneous syndrome.
rs387906661 in
BRAF gene and
LEOPARD SYNDROME 3
PMID 19206169 2009 Germline BRAF mutations in Noonan, LEOPARD, and cardiofaciocutaneous syndromes: molecular diversity and associated phenotypic spectrum.
rs121913348 in
BRAF gene and
Large head (disorder)
PMID 18413255 2008 Biochemical characterization of novel germline BRAF and MEK mutations in cardio-facio-cutaneous syndrome.
PMID 16474404 2006 Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome.
PMID 16439621 2006 Germline mutations in genes within the MAPK pathway cause cardio-facio-cutaneous syndrome.
rs121913338 in
BRAF gene and
Lymphoma, Non-Hodgkin, Familial
PMID 14612909 2003 BRAF mutations in non-Hodgkin's lymphoma.
rs121913348 in
BRAF gene and
Madarosis of eyebrow
PMID 18413255 2008 Biochemical characterization of novel germline BRAF and MEK mutations in cardio-facio-cutaneous syndrome.
rs121913364 in
BRAF gene and
Malignant Uterine Corpus Neoplasm
PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.
rs121913348 in
BRAF gene and
Mammary Neoplasms
PMID 12068308 2002 Mutations of the BRAF gene in human cancer.
PMID 22538770 2012 Mutation profiling identifies numerous rare drug targets and distinct mutation patterns in different clinical subtypes of breast cancers.
PMID 25157968 2014 Prospective enterprise-level molecular genotyping of a cohort of cancer patients.
rs869025340 in
BRAF gene and
Movement Disorders
PMID 19206169 2009 Germline BRAF mutations in Noonan, LEOPARD, and cardiofaciocutaneous syndromes: molecular diversity and associated phenotypic spectrum.
PMID 18413255 2008 Biochemical characterization of novel germline BRAF and MEK mutations in cardio-facio-cutaneous syndrome.
PMID 5771505 1969 Multiple lentigenes syndrome.
PMID 4386970 1968 Hypertelorism with Turner phenotype. A new syndrome with associated congenital heart disease.
PMID 23875798 2013 The RASopathies.
PMID 16523510 2006 LEOPARD syndrome: clinical diagnosis in the first year of life.
PMID 18039235 2007 Neurological complications of cardio-facio-cutaneous syndrome.
PMID 16825433 2006 The cardiofaciocutaneous syndrome.
rs113488022 in
BRAF gene and
Multiple Myeloma
PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.
rs180177035 in
BRAF gene and
Multiple congenital anomalies
PMID 5771505 1969 Multiple lentigenes syndrome.
PMID 16825433 2006 The cardiofaciocutaneous syndrome.
PMID 23875798 2013 The RASopathies.
PMID 4386970 1968 Hypertelorism with Turner phenotype. A new syndrome with associated congenital heart disease.
PMID 18039235 2007 Neurological complications of cardio-facio-cutaneous syndrome.
PMID 18413255 2008 Biochemical characterization of novel germline BRAF and MEK mutations in cardio-facio-cutaneous syndrome.
PMID 19206169 2009 Germline BRAF mutations in Noonan, LEOPARD, and cardiofaciocutaneous syndromes: molecular diversity and associated phenotypic spectrum.
PMID 16523510 2006 LEOPARD syndrome: clinical diagnosis in the first year of life.
rs121913348 in
BRAF gene and
Muscle hypotonia
PMID 18413255 2008 Biochemical characterization of novel germline BRAF and MEK mutations in cardio-facio-cutaneous syndrome.
PMID 5771505 1969 Multiple lentigenes syndrome.
PMID 19206169 2009 Germline BRAF mutations in Noonan, LEOPARD, and cardiofaciocutaneous syndromes: molecular diversity and associated phenotypic spectrum.
PMID 4386970 1968 Hypertelorism with Turner phenotype. A new syndrome with associated congenital heart disease.
PMID 16825433 2006 The cardiofaciocutaneous syndrome.
PMID 18039235 2007 Neurological complications of cardio-facio-cutaneous syndrome.
PMID 16523510 2006 LEOPARD syndrome: clinical diagnosis in the first year of life.
PMID 23875798 2013 The RASopathies.
rs121913370 in
BRAF gene and
Myeloid Leukemia, Chronic
PMID 25157968 2014 Prospective enterprise-level molecular genotyping of a cohort of cancer patients.
PMID 24446311 2014 BRAF kinase domain mutations are present in a subset of chronic myelomonocytic leukemia with wild-type RAS.
rs121913369 in
BRAF gene and
NOONAN SYNDROME 7
PMID 19206169 2009 Germline BRAF mutations in Noonan, LEOPARD, and cardiofaciocutaneous syndromes: molecular diversity and associated phenotypic spectrum.
PMID 20876176 2010 Noonan syndrome: clinical features, diagnosis, and management guidelines.
rs113488022 in
BRAF gene and
Neoplasms
PMID 15035987 2004 Mechanism of activation of the RAF-ERK signaling pathway by oncogenic mutations of B-RAF.
PMID 25157968 2014 Prospective enterprise-level molecular genotyping of a cohort of cancer patients.
rs113488022 in
BRAF gene and
Non-Small Cell Lung Carcinoma
PMID 12068308 2002 Mutations of the BRAF gene in human cancer.
PMID 14688025 2004 Mutation analysis of the BRAF, ARAF and RAF-1 genes in human colorectal adenocarcinomas.
PMID 19593635 2010 Distinct gene mutation profiles among luminal-type and basal-type breast cancer cell lines.
PMID 17314276 2007 Phosphatidylinositol-3-OH kinase or RAS pathway mutations in human breast cancer cell lines.
PMID 25157968 2014 Prospective enterprise-level molecular genotyping of a cohort of cancer patients.
PMID 12460919 2002 Missense mutations of the BRAF gene in human lung adenocarcinoma.
PMID 15046639 2004 Constitutive activation of the Ras-Raf signaling pathway in metastatic melanoma is associated with poor prognosis.
PMID 14681681 2003 Activating BRAF and N-Ras mutations in sporadic primary melanomas: an inverse association with allelic loss on chromosome 9.
PMID 15035987 2004 Mechanism of activation of the RAF-ERK signaling pathway by oncogenic mutations of B-RAF.
PMID 23093928 2012 A structural systems biology approach for quantifying the systemic consequences of missense mutations in proteins.
PMID 19206169 2009 Germline BRAF mutations in Noonan, LEOPARD, and cardiofaciocutaneous syndromes: molecular diversity and associated phenotypic spectrum.
PMID 22892241 2012 The intermediate-activity (L597V)BRAF mutant acts as an epistatic modifier of oncogenic RAS by enhancing signaling through the RAF/MEK/ERK pathway.
PMID 15753399 2005 Inactivation of the mitogen-activated protein kinase pathway as a potential target-based therapy in ovarian serous tumors with KRAS or BRAF mutations.
PMID 15016963 2004 High frequency of mutations of the PIK3CA gene in human cancers.
PMID 19383316 2008 Gene expression signature associated with BRAF mutations in human primary cutaneous melanomas.
PMID 17119447 2006 NRAS and BRAF mutations in melanoma tumours in relation to clinical characteristics: a study based on mutation screening by pyrosequencing.
PMID 17311103 2007 B-RAF and N-RAS mutations are preserved during short time in vitro propagation and differentially impact prognosis.
PMID 18368129 2008 MC1R variants increase risk of melanomas harboring BRAF mutations.
PMID 17096326 2007 Diet and lifestyle factor associations with CpG island methylator phenotype and BRAF mutations in colon cancer.
PMID 19913317 2010 KRAS and BRAF mutations in patients with rectal cancer treated with preoperative chemoradiotherapy.
PMID 19794125 2009 Alterations of BRAF and HIPK2 loci predominate in sporadic pilocytic astrocytoma.
PMID 21716161 2011 BRAF, p53 and SOX2 in anaplastic thyroid carcinoma: evidence for multistep carcinogenesis.
PMID 21343559 2011 Prognostic and clinicopathologic associations of oncogenic BRAF in metastatic melanoma.
PMID 19363522 2009 Oncogenic RAF1 rearrangement and a novel BRAF mutation as alternatives to KIAA1549:BRAF fusion in activating the MAPK pathway in pilocytic astrocytoma.
PMID 21190184 2011 Functional characterization of a BRAF insertion mutant associated with pilocytic astrocytoma.
PMID 22535154 2012 Distinguishing clinicopathologic features of patients with V600E and V600K BRAF-mutant metastatic melanoma.
rs121913348 in
BRAF gene and
Noonan Syndrome
PMID 18060073 2007 Mutation analysis of BRAF, MEK1 and MEK2 in 15 ovarian cancer cell lines: implications for therapy.
PMID 18413255 2008 Biochemical characterization of novel germline BRAF and MEK mutations in cardio-facio-cutaneous syndrome.
PMID 12692057 2003 Mutations of the BRAF gene in cholangiocarcinoma but not in hepatocellular carcinoma.
PMID 17704260 2007 Cardio-facio-cutaneous and Noonan syndromes due to mutations in the RAS/MAPK signalling pathway: genotype-phenotype relationships and overlap with Costello syndrome.
PMID 19206169 2009 Germline BRAF mutations in Noonan, LEOPARD, and cardiofaciocutaneous syndromes: molecular diversity and associated phenotypic spectrum.
PMID 16953233 2007 KRAS and BRAF oncogenic mutations in MSS colorectal carcinoma progression.
PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.
PMID 23026937 2013 Immunohistochemistry is highly sensitive and specific for the detection of V600E BRAF mutation in melanoma.
PMID 23093928 2012 A structural systems biology approach for quantifying the systemic consequences of missense mutations in proteins.
PMID 22892241 2012 The intermediate-activity (L597V)BRAF mutant acts as an epistatic modifier of oncogenic RAS by enhancing signaling through the RAF/MEK/ERK pathway.
PMID 15035987 2004 Mechanism of activation of the RAF-ERK signaling pathway by oncogenic mutations of B-RAF.
PMID 20523244 2011 Non-hodgkin lymphoma in a patient with cardiofaciocutaneous syndrome.
PMID 18042262 2008 Mutation and phenotypic spectrum in patients with cardio-facio-cutaneous and Costello syndrome.
PMID 16474404 2006 Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome.
PMID 18456719 2008 Noonan and cardio-facio-cutaneous syndromes: two clinically and genetically overlapping disorders.
PMID 18953432 2008 p16INK4a expression and absence of activated B-RAF are independent predictors of chemosensitivity in melanoma tumors.
PMID 16439621 2006 Germline mutations in genes within the MAPK pathway cause cardio-facio-cutaneous syndrome.
PMID 18039235 2007 Neurological complications of cardio-facio-cutaneous syndrome.
PMID 17603482 2007 Germline gain-of-function mutations in RAF1 cause Noonan syndrome.
PMID 24803665 2014 Structure-energy-based predictions and network modelling of RASopathy and cancer missense mutations.
PMID 17366577 2007 Molecular and clinical characterization of cardio-facio-cutaneous (CFC) syndrome: overlapping clinical manifestations with Costello syndrome.
PMID 19376813 2009 Kinase-activating and kinase-impaired cardio-facio-cutaneous syndrome alleles have activity during zebrafish development and are sensitive to small molecule inhibitors.
PMID 22495831 2012 Prevalence and clinical features of Costello syndrome and cardio-facio-cutaneous syndrome in Japan: findings from a nationwide epidemiological survey.
PMID 24451042 2014 Diagnosis of Noonan syndrome and related disorders using target next generation sequencing.
rs180177035 in
BRAF gene and
Orbital separation excessive
PMID 16474404 2006 Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome.
PMID 16439621 2006 Germline mutations in genes within the MAPK pathway cause cardio-facio-cutaneous syndrome.
rs113488022 in
BRAF gene and
Papillary renal cell carcinoma, sporadic
PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.
rs121913348 in
BRAF gene and
Polyhydramnios
PMID 18413255 2008 Biochemical characterization of novel germline BRAF and MEK mutations in cardio-facio-cutaneous syndrome.
rs180177035 in
BRAF gene and
Posteriorly rotated ear
PMID 16439621 2006 Germline mutations in genes within the MAPK pathway cause cardio-facio-cutaneous syndrome.
PMID 16474404 2006 Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome.
rs180177035 in
BRAF gene and
Postnatal onset growth deficiency
PMID 16474404 2006 Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome.
PMID 16439621 2006 Germline mutations in genes within the MAPK pathway cause cardio-facio-cutaneous syndrome.
rs180177035 in
BRAF gene and
Prominent forehead
PMID 16474404 2006 Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome.
PMID 16439621 2006 Germline mutations in genes within the MAPK pathway cause cardio-facio-cutaneous syndrome.
rs180177035 in
BRAF gene and
Pulmonary Stenosis
PMID 16439621 2006 Germline mutations in genes within the MAPK pathway cause cardio-facio-cutaneous syndrome.
PMID 16474404 2006 Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome.
rs397507476 in
BRAF gene and
Seizures
PMID 16474404 2006 Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome.
PMID 18042262 2008 Mutation and phenotypic spectrum in patients with cardio-facio-cutaneous and Costello syndrome.
PMID 19206169 2009 Germline BRAF mutations in Noonan, LEOPARD, and cardiofaciocutaneous syndromes: molecular diversity and associated phenotypic spectrum.
rs121913370 in
BRAF gene and
Serous cystadenocarcinoma ovary
PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.
rs121913348 in
BRAF gene and
Sparse eyebrow
PMID 18413255 2008 Biochemical characterization of novel germline BRAF and MEK mutations in cardio-facio-cutaneous syndrome.
rs180177035 in
BRAF gene and
Sparse hair
PMID 16439621 2006 Germline mutations in genes within the MAPK pathway cause cardio-facio-cutaneous syndrome.
PMID 16474404 2006 Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome.
rs121913351 in
BRAF gene and
Squamous cell carcinoma of lung
PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.
rs121913355 in
BRAF gene and
Squamous cell carcinoma of skin
PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.
rs113488022 in
BRAF gene and
Squamous cell carcinoma of the head and neck
PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.
rs121913364 in
BRAF gene and
Thyroid Neoplasm
PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.
rs121913338 in
BRAF gene and
Transitional cell carcinoma of bladder
PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.
rs11762469 in
BRAF gene and
Vital capacity
PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.
rs397507476 in
BRAF gene and
leukemia
PMID 18042262 2008 Mutation and phenotypic spectrum in patients with cardio-facio-cutaneous and Costello syndrome.
PMID 16474404 2006 Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome.
PMID 19206169 2009 Germline BRAF mutations in Noonan, LEOPARD, and cardiofaciocutaneous syndromes: molecular diversity and associated phenotypic spectrum.
rs1057519718 in
BRAF gene and
melanoma
PMID 12068308 2002 Mutations of the BRAF gene in human cancer.
PMID 20141835 2010 Kinase-dead BRAF and oncogenic RAS cooperate to drive tumor progression through CRAF.
PMID 14679157 2003 Determinants of BRAF mutations in primary melanomas.
PMID 25157968 2014 Prospective enterprise-level molecular genotyping of a cohort of cancer patients.
PMID 16096377 2005 Analysis of BRAF mutation in primary and metastatic melanoma.
PMID 21639808 2011 Vemurafenib produced improved rates of overall and progression-free survival in patients with previously untreated melanoma with the BRAF V600E mutation.
PMID 22048237 2012 Phase II, open-label, randomized trial of the MEK1/2 inhibitor selumetinib as monotherapy versus temozolomide in patients with advanced melanoma.
PMID 22389471 2012 To identify determinants of acquired resistance to GSK2118436 and strategies to overcome the resistance, we isolated GSK2118436 drug-resistant clones from the A375 BRAF(V600E) and the YUSIT1 BRAF(V600K) melanoma cell lines.
PMID 19404918 2009 Mutational analysis of the BRAF gene in transitional cell carcinoma of the bladder.
PMID 20818844 2010 In the dose-escalation cohort, among the 16 patients with melanoma whose tumors carried the V600E BRAF mutation and who were receiving 240 mg or more of PLX4032 twice daily, 10 had a partial response and 1 had a complete response.
PMID 22536370 2012 Routine multiplex mutational profiling of melanomas enables enrollment in genotype-driven therapeutic trials.
PMID 21156289 2010 Acquired resistance to BRAF inhibitors mediated by a RAF kinase switch in melanoma can be overcome by cotargeting MEK and IGF-1R/PI3K.
PMID 23020132 2012 Combined BRAF and MEK inhibition in melanoma with BRAF V600 mutations.
PMID 23918947 2013 Phase II trial (BREAK-2) of the BRAF inhibitor dabrafenib (GSK2118436) in patients with metastatic melanoma.
PMID 20630094 2010 Incidence of the V600K mutation among melanoma patients with BRAF mutations, and potential therapeutic response to the specific BRAF inhibitor PLX4032.
PMID 23031422 2012 Overwhelming response to Dabrafenib in a patient with double BRAF mutation (V600E; V600M) metastatic malignant melanoma.
PMID 24508103 2014 Safety and efficacy of vemurafenib in BRAF(V600E) and BRAF(V600K) mutation-positive melanoma (BRIM-3): extended follow-up of a phase 3, randomised, open-label study.
PMID 22351686 2012 The HSP90 inhibitor XL888 overcomes BRAF inhibitor resistance mediated through diverse mechanisms.
PMID 22972589 2013 Clinical responses to selumetinib (AZD6244; ARRY-142886)-based combination therapy stratified by gene mutations in patients with metastatic melanoma.
PMID 22805292 2012 Activity of the oral MEK inhibitor trametinib in patients with advanced melanoma: a phase 1 dose-escalation trial.
PMID 22608338 2012 Efficacy at the recommended phase 2 dose was studied in patients with BRAF-mutant tumours, including those with non-Val600Glu mutations, in three cohorts: metastatic melanoma, melanoma with untreated brain metastases, and non-melanoma solid tumours.
PMID 22997239 2012 Here, CDK2/4 inhibition statistically significantly augmented the effects of BRAF(V600E)- or MEK-inhibitors on melanoma cell viability in vitro and growth in athymic nude Foxn1 ( nu ) mice (P = .03 when mean tumor volume at day 13 was compared for BRAF(V600E) inhibitor vs BRAF(V600E) inhibitor plus CDK2/4 inhibition; P = .02 when mean tumor volume was compared for MEK inhibitor vs MEK inhibitor plus CDK2/4 inhibition; P values were calculated by a two-sided Welch t test; n = 4-8 mice per group).
PMID 22356324 2012 Survival in BRAF V600-mutant advanced melanoma treated with vemurafenib.
PMID 24586605 2014 BRAF-V600 mutations have no prognostic impact in stage IV melanoma patients treated with monochemotherapy.
PMID 26678033 2016 Primary cross-resistance to BRAFV600E-, MEK1/2- and PI3K/mTOR-specific inhibitors in BRAF-mutant melanoma cells counteracted by dual pathway blockade.
PMID 25370471 2015 A patient with V600E BRAF-mutant melanoma and another with platinum-refractory epithelial ovarian cancer exhibiting PTEN loss and PIK3CA amplification demonstrated partial response by RECIST and GCIG-CA125 criteria, respectively.
PMID 22735384 2012 Patients aged 18 years or older with previously untreated, stage IV or unresectable stage III BRAF(V600E) mutation-positive melanoma were randomly assigned (3:1) to receive dabrafenib (150 mg twice daily, orally) or dacarbazine (1000 mg/m(2) intravenously every 3 weeks).
PMID 23614898 2013 Discovery of a novel ERK inhibitor with activity in models of acquired resistance to BRAF and MEK inhibitors.
PMID 24583796 2014 Dabrafenib and trametinib, alone and in combination for BRAF-mutant metastatic melanoma.
PMID 22663011 2012 Improved survival with MEK inhibition in BRAF-mutated melanoma.
PMID 24576830 2014 Loss of NF1 in cutaneous melanoma is associated with RAS activation and MEK dependence.
PMID 24388723 2014 Prognostic value of BRAF mutations in localized cutaneous melanoma.
PMID 23317446 2013 Effect of dabrafenib on melanoma cell lines harbouring the BRAF(V600D/R) mutations.
PMID 23237741 2013 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.
PMID 25656898 2015 Database of genomic biomarkers for cancer drugs and clinical targetability in solid tumors.
PMID 24508103 2014 Safety and efficacy of vemurafenib in BRAF(V600E) and BRAF(V600K) mutation-positive melanoma (BRIM-3): extended follow-up of a phase 3, randomised, open-label study.
PMID 22735384 2012 Dabrafenib in BRAF-mutated metastatic melanoma: a multicentre, open-label, phase 3 randomised controlled trial.
PMID 23248257 2013 Phase II study of the MEK1/MEK2 inhibitor Trametinib in patients with metastatic BRAF-mutant cutaneous melanoma previously treated with or without a BRAF inhibitor.
PMID 21639808 2011 Improved survival with vemurafenib in melanoma with BRAF V600E mutation.
PMID 20818844 2010 Inhibition of mutated, activated BRAF in metastatic melanoma.
PMID 22608338 2012 Dabrafenib in patients with melanoma, untreated brain metastases, and other solid tumours: a phase 1 dose-escalation trial.
PMID 20630094 2010 Incidence of the V600K mutation among melanoma patients with BRAF mutations, and potential therapeutic response to the specific BRAF inhibitor PLX4032.
PMID 20551065 2010 RG7204 (PLX4032), a selective BRAFV600E inhibitor, displays potent antitumor activity in preclinical melanoma models.
PMID 2872605 1986 Acute effects of some volatile nitrites on motor performance and lethality in mice.
PMID 18794803 2009 Knockdown of CRAF using a lentiviral shRNA suppressed both Bcl-2 expression and induced apoptosis in the D594G melanoma line but not in a V600E-mutated line.
PMID 24918823 2014 Correlation of BRAF and NRAS mutation status with outcome, site of distant metastasis and response to chemotherapy in metastatic melanoma.
PMID 23273605 2013 Frequency and spectrum of BRAF mutations in a retrospective, single-institution study of 1112 cases of melanoma.
PMID 18794803 2009 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.
PMID 24710085 2015 BRAF and NRAS mutations are heterogeneous and not mutually exclusive in nodular melanoma.
PMID 23833300 2013 Clinical, pathologic, and biologic features associated with BRAF mutations in non-small cell lung cancer.
PMID 22649091 2012 Kinase-impaired BRAF mutations in lung cancer confer sensitivity to dasatinib.
PMID 22798288 2012 This study shows that cells harboring BRAF(L597R) mutants are sensitive to MEK inhibitor treatment, providing a rationale for routine screening and therapy of BRAF(L597R)-mutant melanoma.
PMID 2493360 1989 [Long-term results following surgery or radioiodine treatment of solitary autonomous adenoma of the thyroid gland].
PMID 23715574 2013 Major clinical response to a BRAF inhibitor in a patient with a BRAF L597R-mutated melanoma.
PMID 19238210 2009 Alterations in genes of the EGFR signaling pathway and their relationship to EGFR tyrosine kinase inhibitor sensitivity in lung cancer cell lines.
PMID 21483012 2011 Clinical characteristics of patients with lung adenocarcinomas harboring BRAF mutations.
PMID 12460919 2002 Missense mutations of the BRAF gene in human lung adenocarcinoma.
PMID 19010912 2008 Genetic predictors of MEK dependence in non-small cell lung cancer.
PMID 12460918 2002 BRAF and RAS mutations in human lung cancer and melanoma.
PMID 22798288 2012 BRAF(L597) mutations in melanoma are associated with sensitivity to MEK inhibitors.
PMID 23715574 2013 Major clinical response to a BRAF inhibitor in a patient with a BRAF L597R-mutated melanoma.
PMID 18060073 2007 Mutation analysis of BRAF, MEK1 and MEK2 in 15 ovarian cancer cell lines: implications for therapy.
PMID 20551065 2010 Our findings offer evidence of the potent antitumor activity of RG7204 against melanomas harboring the mutant BRAF(V600E) gene.
PMID 23317446 2013 Effect of dabrafenib on melanoma cell lines harbouring the BRAF(V600D/R) mutations.
PMID 23524406 2013 Molecular characterization of acquired resistance to the BRAF inhibitor dabrafenib in a patient with BRAF-mutant non-small-cell lung cancer.
PMID 23031422 2012 Overwhelming response to Dabrafenib in a patient with double BRAF mutation (V600E; V600M) metastatic malignant melanoma.
PMID 22743296 2012 A patient with BRAF V600E lung adenocarcinoma responding to vemurafenib.
PMID 21750866 2011 NRAS and BRAF mutation frequency in primary oral mucosal melanoma.
rs113488022 in
BRAF gene and
ovarian neoplasm
PMID 21639808 2011 Improved survival with vemurafenib in melanoma with BRAF V600E mutation.
PMID 22608338 2012 Dabrafenib in patients with melanoma, untreated brain metastases, and other solid tumours: a phase 1 dose-escalation trial.
PMID 20818844 2010 Inhibition of mutated, activated BRAF in metastatic melanoma.
PMID 21975775 2011 Epidermal growth factor receptor blockers for the treatment of ovarian cancer.
PMID 21683865 2011 Molecular pathogenesis and extraovarian origin of epithelial ovarian cancer--shifting the paradigm.
PMID 19018267 2008 KRAS or BRAF mutation status is a useful predictor of sensitivity to MEK inhibition in ovarian cancer.
PMID 12068308 2002 Mutations of the BRAF gene in human cancer.
PMID 25157968 2014 Prospective enterprise-level molecular genotyping of a cohort of cancer patients.
PMID 22798288 2012 BRAF(L597) mutations in melanoma are associated with sensitivity to MEK inhibitors.