Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs113488022
rs113488022
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
T 0.900 CausalMutation CLINVAR

dbSNP: rs113488022
rs113488022
CUI: C0025202
Disease: melanoma
melanoma
T 0.800 CausalMutation CLINVAR Prognostic value of BRAF mutations in localized cutaneous melanoma. 24388723

2014

dbSNP: rs113488022
rs113488022
CUI: C0238463
Disease: Papillary thyroid carcinoma
Papillary thyroid carcinoma
T 0.800 CausalMutation CLINVAR

dbSNP: rs113488022
rs113488022
CUI: C0025202
Disease: melanoma
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

dbSNP: rs113488022
rs113488022
CUI: C0025202
Disease: melanoma
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

dbSNP: rs113488022
rs113488022
CUI: C0025202
Disease: melanoma
melanoma
T 0.800 CausalMutation CLINVAR Loss of NF1 in cutaneous melanoma is associated with RAS activation and MEK dependence. 24576830

2014

dbSNP: rs113488022
rs113488022
CUI: C0238198
Disease: Gastrointestinal Stromal Tumors
Gastrointestinal Stromal Tumors
T 0.800 CausalMutation CLINVAR Mutations of the BRAF gene in human cancer. 12068308

2002

dbSNP: rs113488022
rs113488022
CUI: C0025202
Disease: melanoma
melanoma
T 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
rs113488022
CUI: C0025202
Disease: melanoma
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

dbSNP: rs113488022
rs113488022
CUI: C0025202
Disease: melanoma
melanoma
T 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: rs113488022
rs113488022
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma
T 0.800 CausalMutation CLINVAR Mutations of the BRAF gene in human cancer. 12068308

2002

dbSNP: rs113488022
rs113488022
CUI: C0238198
Disease: Gastrointestinal Stromal Tumors
Gastrointestinal Stromal Tumors
T 0.800 CausalMutation CLINVAR Inhibition of mutated, activated BRAF in metastatic melanoma. 20818844

2010

dbSNP: rs113488022
rs113488022
CUI: C0025202
Disease: melanoma
melanoma
T 0.800 CausalMutation CLINVAR Determinants of BRAF mutations in primary melanomas. 14679157

2003

dbSNP: rs113488022
rs113488022
CUI: C0238198
Disease: Gastrointestinal Stromal Tumors
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

dbSNP: rs113488022
rs113488022
CUI: C0238198
Disease: Gastrointestinal Stromal Tumors
Gastrointestinal Stromal Tumors
T 0.800 CausalMutation CLINVAR Improved survival with vemurafenib in melanoma with BRAF V600E mutation. 21639808

2011

dbSNP: rs113488022
rs113488022
CUI: C0025202
Disease: melanoma
melanoma
T 0.800 CausalMutation CLINVAR 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). 22997239

2012

dbSNP: rs113488022
rs113488022
CUI: C0025202
Disease: melanoma
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

dbSNP: rs113488022
rs113488022
CUI: C0025202
Disease: melanoma
melanoma
T 0.800 CausalMutation CLINVAR Improved survival with MEK inhibition in BRAF-mutated melanoma. 22663011

2012

dbSNP: rs113488022
rs113488022
CUI: C0025202
Disease: melanoma
melanoma
T 0.800 CausalMutation CLINVAR Combined BRAF and MEK inhibition in melanoma with BRAF V600 mutations. 23020132

2012

dbSNP: rs113488022
rs113488022
CUI: C0025202
Disease: melanoma
melanoma
T 0.800 CausalMutation CLINVAR Overwhelming response to Dabrafenib in a patient with double BRAF mutation (V600E; V600M) metastatic malignant melanoma. 23031422

2012

dbSNP: rs113488022
rs113488022
CUI: C0025202
Disease: melanoma
melanoma
T 0.800 CausalMutation CLINVAR Phase II trial (BREAK-2) of the BRAF inhibitor dabrafenib (GSK2118436) in patients with metastatic melanoma. 23918947

2013

dbSNP: rs113488022
rs113488022
CUI: C0025202
Disease: melanoma
melanoma
T 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
rs113488022
CUI: C0238198
Disease: Gastrointestinal Stromal Tumors
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

dbSNP: rs113488022
rs113488022
CUI: C0025202
Disease: melanoma
melanoma
T 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: rs113488022
rs113488022
CUI: C0025202
Disease: melanoma
melanoma
T 0.800 CausalMutation CLINVAR BRAF-V600 mutations have no prognostic impact in stage IV melanoma patients treated with monochemotherapy. 24586605

2014