DisGeNET - a database of gene-disease associations

Source: CLINVAR

Variant: rs121913227 ×

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

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs121913227

BRAF

CUI:	C0025202
Disease:	melanoma

melanoma

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

CUI:	C0025202
Disease:	melanoma

melanoma

0.800

CausalMutation

CLINVAR

Dabrafenib in BRAF-mutated metastatic melanoma: a multicentre, open-label, phase 3 randomised controlled trial.

22735384

2012

dbSNP:

rs121913227

BRAF

CUI:	C0025202
Disease:	melanoma

melanoma

0.800

CausalMutation

CLINVAR

Mutations of the BRAF gene in human cancer.

12068308

2002

dbSNP:

rs121913227

BRAF

CUI:	C0025202
Disease:	melanoma

melanoma

0.800

CausalMutation

CLINVAR

Improved survival with vemurafenib in melanoma with BRAF V600E mutation.

21639808

2011

dbSNP:

rs121913227

BRAF

CUI:	C0025202
Disease:	melanoma

melanoma

0.800

CausalMutation

CLINVAR

Effect of dabrafenib on melanoma cell lines harbouring the BRAF(V600D/R) mutations.

23317446

2013

dbSNP:

rs121913227

BRAF

CUI:	C0025202
Disease:	melanoma

melanoma

0.800

CausalMutation

CLINVAR

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

22356324

2012

dbSNP:

rs121913227

BRAF

CUI:	C0025202
Disease:	melanoma

melanoma

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

dbSNP:

rs121913227

BRAF

CUI:	C0025202
Disease:	melanoma

melanoma

0.800

CausalMutation

CLINVAR

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.

23237741

2013

dbSNP:

rs121913227

BRAF

CUI:	C0025202
Disease:	melanoma

melanoma

0.800

CausalMutation

CLINVAR

Dabrafenib in BRAF-mutated metastatic melanoma: a multicentre, open-label, phase 3 randomised controlled trial.

22735384

2012

dbSNP:

rs121913227

BRAF

CUI:	C0025202
Disease:	melanoma

melanoma

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:

rs121913227

BRAF

CUI:	C0025202
Disease:	melanoma

melanoma

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

dbSNP:

rs121913227

BRAF

CUI:	C0025202
Disease:	melanoma

melanoma

0.800

CausalMutation

CLINVAR

Inhibition of mutated, activated BRAF in metastatic melanoma.

20818844

2010

dbSNP:

rs121913227

BRAF

CUI:	C0025202
Disease:	melanoma

melanoma

0.800

CausalMutation

CLINVAR

Improved survival with MEK inhibition in BRAF-mutated melanoma.

22663011

2012

dbSNP:

rs121913227

BRAF

CUI:	C0025202
Disease:	melanoma

melanoma

0.800

CausalMutation

CLINVAR

Determinants of BRAF mutations in primary melanomas.

14679157

2003

dbSNP:

rs121913227

BRAF

CUI:	C0025202
Disease:	melanoma

melanoma

0.800

CausalMutation

CLINVAR

Improved survival with vemurafenib in melanoma with BRAF V600E mutation.

21639808

2011

dbSNP:

rs121913227

BRAF

CUI:	C0025202
Disease:	melanoma

melanoma

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:

rs121913227

BRAF

CUI:	C0025202
Disease:	melanoma

melanoma

0.800

CausalMutation

CLINVAR

Improved survival with MEK inhibition in BRAF-mutated melanoma.

22663011

2012

dbSNP:

rs121913227

BRAF

CUI:	C0025202
Disease:	melanoma

melanoma

0.800

CausalMutation

CLINVAR

Inhibition of mutated, activated BRAF in metastatic melanoma.

20818844

2010

dbSNP:

rs121913227

BRAF

CUI:	C0025202
Disease:	melanoma

melanoma

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

CUI:	C0025202
Disease:	melanoma

melanoma

0.800

CausalMutation

CLINVAR

RG7204 (PLX4032), a selective BRAFV600E inhibitor, displays potent antitumor activity in preclinical melanoma models.

20551065

2010

dbSNP:

rs121913227

BRAF

CUI:	C0025202
Disease:	melanoma

melanoma

0.800

CausalMutation

CLINVAR

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

22536370

2012

dbSNP:

rs121913227

BRAF

CUI:	C0025202
Disease:	melanoma

melanoma

0.800

CausalMutation

CLINVAR

Phase II trial (BREAK-2) of the BRAF inhibitor dabrafenib (GSK2118436) in patients with metastatic melanoma.

23918947

2013

dbSNP:

rs121913227

BRAF

CUI:	C0025202
Disease:	melanoma

melanoma

0.800

CausalMutation

CLINVAR

Database of genomic biomarkers for cancer drugs and clinical targetability in solid tumors.

25656898

2015

dbSNP:

rs121913227

BRAF

CUI:	C0025202
Disease:	melanoma

melanoma

0.800

CausalMutation

CLINVAR

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.

23248257

2013

dbSNP:

rs121913227

BRAF

CUI:	C0025202
Disease:	melanoma

melanoma

0.800

CausalMutation

CLINVAR

Prospective enterprise-level molecular genotyping of a cohort of cancer patients.

25157968

2014