DisGeNET - a database of gene-disease associations

melanoma, C0025202

Gene: BRAF ×

Source: CLINVAR ×

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs121913227

BRAF

0.800

CausalMutation

CLINVAR

Activity of the oral MEK inhibitor trametinib in patients with advanced melanoma: a phase 1 dose-escalation trial.

22805292

2012

dbSNP:

rs121913227

BRAF

0.800

CausalMutation

CLINVAR

Routine multiplex mutational profiling of melanomas enables enrollment in genotype-driven therapeutic trials.

22536370

2012

dbSNP:

rs121913227

BRAF

0.800

CausalMutation

CLINVAR

Dabrafenib in patients with melanoma, untreated brain metastases, and other solid tumours: a phase 1 dose-escalation trial.

22608338

2012

dbSNP:

rs121913227

BRAF

0.800

CausalMutation

CLINVAR

Activity of the oral MEK inhibitor trametinib in patients with advanced melanoma: a phase 1 dose-escalation trial.

22805292

2012

dbSNP:

rs121913227

BRAF

0.800

CausalMutation

CLINVAR

Dabrafenib in patients with melanoma, untreated brain metastases, and other solid tumours: a phase 1 dose-escalation trial.

22608338

2012

dbSNP:

rs121913227

BRAF

0.800

CausalMutation

CLINVAR

Combined BRAF and MEK inhibition in melanoma with BRAF V600 mutations.

23020132

2012

dbSNP:

rs121913227

BRAF

0.800

CausalMutation

CLINVAR

Survival in BRAF V600-mutant advanced melanoma treated with vemurafenib.

22356324

2012

dbSNP:

rs121913377

BRAF

0.800

CausalMutation

CLINVAR

Improved survival with MEK inhibition in BRAF-mutated melanoma.

22663011

2012

dbSNP:

rs121913377

BRAF

0.800

CausalMutation

CLINVAR

Activity of the oral MEK inhibitor trametinib in patients with advanced melanoma: a phase 1 dose-escalation trial.

22805292

2012

dbSNP:

rs121913377

BRAF

0.800

CausalMutation

CLINVAR

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.

22608338

2012

dbSNP:

rs121913377

BRAF

0.800

CausalMutation

CLINVAR

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).

22735384

2012

dbSNP:

rs121913377

BRAF

0.800

CausalMutation

CLINVAR

Combined BRAF and MEK inhibition in melanoma with BRAF V600 mutations.

23020132

2012

dbSNP:

rs121913377

BRAF

0.800

CausalMutation

CLINVAR

Survival in BRAF V600-mutant advanced melanoma treated with vemurafenib.

22356324

2012

dbSNP:

rs121913377

BRAF

0.800

GeneticVariation

CLINVAR

Overwhelming response to Dabrafenib in a patient with double BRAF mutation (V600E; V600M) metastatic malignant melanoma.

23031422

2012

dbSNP:

rs121913377

BRAF

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

dbSNP:

rs113488022

BRAF

0.800

CausalMutation

CLINVAR

Vemurafenib produced improved rates of overall and progression-free survival in patients with previously untreated melanoma with the BRAF V600E mutation.

21639808

2011

dbSNP:

rs121913227

BRAF

0.800

CausalMutation

CLINVAR

Improved survival with vemurafenib in melanoma with BRAF V600E mutation.

21639808

2011

dbSNP:

rs121913227

BRAF

0.800

CausalMutation

CLINVAR

Improved survival with vemurafenib in melanoma with BRAF V600E mutation.

21639808

2011

dbSNP:

rs121913377

BRAF

0.800

CausalMutation

CLINVAR

Vemurafenib produced improved rates of overall and progression-free survival in patients with previously untreated melanoma with the BRAF V600E mutation.

21639808

2011

dbSNP:

rs121913377

BRAF

0.800

GeneticVariation

CLINVAR

Vemurafenib produced improved rates of overall and progression-free survival in patients with previously untreated melanoma with the BRAF V600E mutation.

21639808

2011

dbSNP:

rs113488022

BRAF

0.800

CausalMutation

CLINVAR

Acquired resistance to BRAF inhibitors mediated by a RAF kinase switch in melanoma can be overcome by cotargeting MEK and IGF-1R/PI3K.

21156289

2010

dbSNP:

rs113488022

BRAF

0.800

CausalMutation

CLINVAR

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.

20818844

2010

dbSNP:

rs113488022

BRAF

0.800

CausalMutation

CLINVAR

Incidence of the V600K mutation among melanoma patients with BRAF mutations, and potential therapeutic response to the specific BRAF inhibitor PLX4032.

20630094

2010

dbSNP:

rs121913227

BRAF

0.800

CausalMutation

CLINVAR

Incidence of the V600K mutation among melanoma patients with BRAF mutations, and potential therapeutic response to the specific BRAF inhibitor PLX4032.

20630094

2010

dbSNP:

rs121913227

BRAF

0.800

CausalMutation

CLINVAR

Inhibition of mutated, activated BRAF in metastatic melanoma.

20818844

2010