Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs397517132
rs397517132
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
0.070 GeneticVariation BEFREE Reverse Phase Proteomic Array (RPPA, MD Anderson Cell Lines Project), RNAseq (Cancer Cell Line Encyclopedia) and vemurafenib sensitivity (Cancer Therapeutic Response Portal) data for BRAF-V600E cancer cell lines were curated. 31672130

2019

dbSNP: rs397517132
rs397517132
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
0.070 GeneticVariation BEFREE Patients with this cancer have a high frequency (~50%) of oncogenic <i>BRAF</i> mutations, particularly BRAF V600E. 29387237

2018

dbSNP: rs397517132
rs397517132
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
0.070 GeneticVariation BEFREE In FNA biopsy samples (n=186), immunocytochemical expression of caveolin-1 and BRAF V600E mutation coincided with malignancy. 27818286

2017

dbSNP: rs397517132
rs397517132
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
0.070 GeneticVariation BEFREE We found that gene mutations for EGFR (P = .02) and ALK (P < .001) were associated with cancer diagnosis at a younger age, and a similar trend existed for ERBB2 (P = .15) and ROS1 (P = .10) but not BRAF V600E (P = .43). 26720421

2016

dbSNP: rs397517132
rs397517132
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
0.070 GeneticVariation BEFREE The usefulness of immunohistochemistry (IHC) as a new approach for the detection of BRAF V600E in cancer patients has been recently reported. 23927882

2013

dbSNP: rs397517132
rs397517132
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
0.070 GeneticVariation BEFREE The BRAF inhibitor vemurafenib has become an important treatment option for melanoma patients, the majority of whom have a BRAF(V600E) mutation driving their malignancy. 23074264

2012

dbSNP: rs397517132
rs397517132
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
0.070 GeneticVariation BEFREE The aim of the correlative tumour tissue studies was to investigate the relationship between EGFR gene copy numbers, activation of the EGFR pathway, expression and mutation of E-cadherin, V600E BRAF mutation and clinical outcome of patients with gastric and OGJ cancer treated with cetuximab combined with FUFOX. 22152101

2011