|
rs397507466
|
|
Cardio-facio-cutaneous syndrome
|
G |
0.810 |
GeneticVariation
|
CLINVAR |
We speculate that the impact of p.L245F on BRAF protein function differs either qualitatively or quantitatively from those mutations associated with CFCS.
|
19416762 |
2009 |
|
rs397507466
|
|
Cardio-facio-cutaneous syndrome
|
A |
0.810 |
GeneticVariation
|
CLINVAR |
Germline BRAF mutations in Noonan, LEOPARD, and cardiofaciocutaneous syndromes: molecular diversity and associated phenotypic spectrum.
|
19206169 |
2009 |
|
rs397507466
|
|
Cardio-facio-cutaneous syndrome
|
G |
0.810 |
GeneticVariation
|
CLINVAR |
Germline BRAF mutations in Noonan, LEOPARD, and cardiofaciocutaneous syndromes: molecular diversity and associated phenotypic spectrum.
|
19206169 |
2009 |
|
rs397507466
|
|
Cardio-facio-cutaneous syndrome
|
A |
0.810 |
GeneticVariation
|
CLINVAR |
We speculate that the impact of p.L245F on BRAF protein function differs either qualitatively or quantitatively from those mutations associated with CFCS.
|
19416762 |
2009 |
|
rs113488022
|
|
Adenocarcinoma of lung (disorder)
|
T |
0.800 |
GeneticVariation
|
CLINVAR |
Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.
|
26619011 |
2016 |
|
rs113488022
|
|
Glioblastoma
|
T |
0.800 |
GeneticVariation
|
CLINVAR |
Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.
|
26619011 |
2016 |
|
rs113488022
|
|
Cutaneous Melanoma
|
T |
0.800 |
GeneticVariation
|
CLINVAR |
Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.
|
26619011 |
2016 |
|
rs113488022
|
|
melanoma
|
T |
0.800 |
CausalMutation
|
CLINVAR |
Primary cross-resistance to BRAFV600E-, MEK1/2- and PI3K/mTOR-specific inhibitors in BRAF-mutant melanoma cells counteracted by dual pathway blockade.
|
26678033 |
2016 |
|
rs113488022
|
|
Brain Neoplasms
|
T |
0.800 |
GeneticVariation
|
CLINVAR |
Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.
|
26619011 |
2016 |
|
rs113488022
|
|
melanoma
|
T |
0.800 |
CausalMutation
|
CLINVAR |
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.
|
25370471 |
2015 |
|
rs113488022
|
|
melanoma
|
T |
0.800 |
CausalMutation
|
CLINVAR |
BRAF-V600 mutations have no prognostic impact in stage IV melanoma patients treated with monochemotherapy.
|
24586605 |
2014 |
|
rs113488022
|
|
melanoma
|
T |
0.800 |
CausalMutation
|
CLINVAR |
Prognostic value of BRAF mutations in localized cutaneous melanoma.
|
24388723 |
2014 |
|
rs113488022
|
|
melanoma
|
T |
0.800 |
CausalMutation
|
CLINVAR |
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.
|
24508103 |
2014 |
|
rs113488022
|
|
melanoma
|
T |
0.800 |
CausalMutation
|
CLINVAR |
Prospective enterprise-level molecular genotyping of a cohort of cancer patients.
|
25157968 |
2014 |
|
rs113488022
|
|
melanoma
|
T |
0.800 |
CausalMutation
|
CLINVAR |
Dabrafenib and trametinib, alone and in combination for BRAF-mutant metastatic melanoma.
|
24583796 |
2014 |
|
rs113488022
|
|
melanoma
|
T |
0.800 |
CausalMutation
|
CLINVAR |
Loss of NF1 in cutaneous melanoma is associated with RAS activation and MEK dependence.
|
24576830 |
2014 |
|
rs113488022
|
|
melanoma
|
G |
0.800 |
GeneticVariation
|
CLINVAR |
Prospective enterprise-level molecular genotyping of a cohort of cancer patients.
|
25157968 |
2014 |
|
rs113488022
|
|
melanoma
|
T |
0.800 |
CausalMutation
|
CLINVAR |
Phase II trial (BREAK-2) of the BRAF inhibitor dabrafenib (GSK2118436) in patients with metastatic melanoma.
|
23918947 |
2013 |
|
rs113488022
|
|
Gastrointestinal Stromal Tumors
|
T |
0.800 |
CausalMutation
|
CLINVAR |
We report prolonged antitumor activity in the first patient with V600E BRAF-mutated GIST who was treated with a BRAF inhibitor.
|
23470635 |
2013 |
|
rs113488022
|
|
melanoma
|
T |
0.800 |
CausalMutation
|
CLINVAR |
Discovery of a novel ERK inhibitor with activity in models of acquired resistance to BRAF and MEK inhibitors.
|
23614898 |
2013 |
|
rs113488022
|
|
melanoma
|
T |
0.800 |
CausalMutation
|
CLINVAR |
Clinical responses to selumetinib (AZD6244; ARRY-142886)-based combination therapy stratified by gene mutations in patients with metastatic melanoma.
|
22972589 |
2013 |
|
rs113488022
|
|
Gastrointestinal Stromal Tumors
|
T |
0.800 |
CausalMutation
|
CLINVAR |
Dabrafenib in patients with melanoma, untreated brain metastases, and other solid tumours: a phase 1 dose-escalation trial.
|
22608338 |
2012 |
|
rs113488022
|
|
melanoma
|
T |
0.800 |
CausalMutation
|
CLINVAR |
Phase II, open-label, randomized trial of the MEK1/2 inhibitor selumetinib as monotherapy versus temozolomide in patients with advanced melanoma.
|
22048237 |
2012 |
|
rs113488022
|
|
melanoma
|
T |
0.800 |
CausalMutation
|
CLINVAR |
Activity of the oral MEK inhibitor trametinib in patients with advanced melanoma: a phase 1 dose-escalation trial.
|
22805292 |
2012 |
|
rs113488022
|
|
melanoma
|
T |
0.800 |
CausalMutation
|
CLINVAR |
Overwhelming response to Dabrafenib in a patient with double BRAF mutation (V600E; V600M) metastatic malignant melanoma.
|
23031422 |
2012 |