Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs113488022
rs113488022
CUI: C0238198
Disease: Gastrointestinal Stromal Tumors
Gastrointestinal Stromal Tumors
0.800 GeneticVariation BEFREE We identified BRAF V600E</span> point mutation in 4 % of KIT/PDGFRA wild-type GIST patients. 31708372

2019

dbSNP: rs113488022
rs113488022
CUI: C0238198
Disease: Gastrointestinal Stromal Tumors
Gastrointestinal Stromal Tumors
0.800 GeneticVariation BEFREE Sorafenib-responsive GISTs were BRAF wild-type, whereas the sorafenib-resistant GIST carried a BRAF V600E mutation. 30179868

2019

dbSNP: rs113488022
rs113488022
CUI: C0238198
Disease: Gastrointestinal Stromal Tumors
Gastrointestinal Stromal Tumors
0.800 GeneticVariation BEFREE GISTs with the BRAF V600E mutation are relatively benign tumors with a distinctive molecular mechanism. 28034324

2017

dbSNP: rs113488022
rs113488022
CUI: C0238198
Disease: Gastrointestinal Stromal Tumors
Gastrointestinal Stromal Tumors
0.800 GeneticVariation BEFREE BRAF V600E mutation-specific immunohistochemistry is a highly sensitive and specific method for detecting BRAF-mutated GISTs. 26486743

2015

dbSNP: rs113488022
rs113488022
CUI: C0238198
Disease: Gastrointestinal Stromal Tumors
Gastrointestinal Stromal Tumors
0.800 GeneticVariation BEFREE The aims of this study were to investigate whether succinate dehydrogenase B (SDHB), insulin growth factor 1 receptor (IGF1R), HER2, epidermal growth factor receptor (EGFR) and/or BRAF V600E immunohistochemistry could screen for wild-type gastrointestinal stromal tumours (GISTs), and to determine what proportion of wild-type GISTs expressed these proteins and might therefore represent candidates for targeted therapies. 25659413

2015

dbSNP: rs113488022
rs113488022
CUI: C0238198
Disease: Gastrointestinal Stromal Tumors
Gastrointestinal Stromal Tumors
0.800 GeneticVariation BEFREE The BRAF(V600E) melanoma mutation, like the KIT exon 11 mutation in GIST, has the highest response to therapy. 24531699

2014

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
0.800 GeneticVariation BEFREE 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
0.800 GeneticVariation BEFREE We constructed tissue microarrays of formalin-fixed and paraffin-embedded specimens of 534 gastroesophageal tumors (119 squamous cell cancers and 72 adenocarcinomas of the esophagus, 63 cancers of the gastroesophageal junction/cardia, 199 gastric cancers of the corpus or antrum, 81 gastric gastrointestinal stromal tumors) and performed anti-BRAF-V600E immunostaining using the mutation-specific antibody VE1. 23343956

2013

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: 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: 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: C0238198
Disease: Gastrointestinal Stromal Tumors
Gastrointestinal Stromal Tumors
0.800 GeneticVariation BEFREE BRAF V600E detection in the tumor does not induce a higher expression of the B-raf protein or the preferential activation of the p42/44 mitogen-activated protein kinase (MAPK) signaling pathway compared with GISTs without the BRAF mutation. 20023270

2010

dbSNP: rs113488022
rs113488022
CUI: C0238198
Disease: Gastrointestinal Stromal Tumors
Gastrointestinal Stromal Tumors
0.800 GeneticVariation BEFREE 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. 19561230

2009

dbSNP: rs113488022
rs113488022
CUI: C0238198
Disease: Gastrointestinal Stromal Tumors
Gastrointestinal Stromal Tumors
T 0.800 CausalMutation CLINVAR 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. 19561230

2009

dbSNP: rs113488022
rs113488022
CUI: C0238198
Disease: Gastrointestinal Stromal Tumors
Gastrointestinal Stromal Tumors
0.800 GeneticVariation BEFREE An identical V600E BRAF mutation was also identified in one of 28 imatinib resistant GIST lacking a defined mechanism of drug resistance. 18615679

2008

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