rs121913377, BRAF

N. diseases: 480
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
melanoma
CUI: C0025202
Disease: melanoma
0.800 GeneticVariation BEFREE Importantly, ERK1/2 inhibition may have clinical utility in overcoming acquired resistance to RAF and MEK inhibitors, where RAS/MAPK pathway reactivation has occurred, such as relapsed BRAF V600E/K melanoma. 31710489 2019
melanoma
CUI: C0025202
Disease: melanoma
0.800 GeneticVariation BEFREE BRAF inhibitors (BRAFi) have been applied to treat melanoma harboring V600E mutations. 30829029 2019
melanoma
CUI: C0025202
Disease: melanoma
0.800 GeneticVariation BEFREE The identification of the V600E activating mutation in the protein kinase BRAF in around 50% of melanoma patients has driven the development of highly potent small inhibitors (BRAFi) of the mutated protein. 31401373 2019
melanoma
CUI: C0025202
Disease: melanoma
0.800 GeneticVariation BEFREE Here we discuss the role of ERK signaling in cell fate, in driving melanoma, and in resistance mechanisms to current BRAF-V600E melanoma treatments. 31190430 2019
melanoma
CUI: C0025202
Disease: melanoma
0.800 GeneticVariation BEFREE Patients with BRAF V600E-mutated melanoma respond to FDA-approved BRAF inhibitors. 29271794 2019
melanoma
CUI: C0025202
Disease: melanoma
0.800 GeneticVariation BEFREE The data reveal a very close link between the two methods, supporting the use of the V600E as a primary screen for BRAF mutations in malignant melanoma. 30870099 2019
melanoma
CUI: C0025202
Disease: melanoma
0.800 GeneticVariation BEFREE Only one case of urethral melanoma showed a BRAF non-V600E mutation (D594G). 31567539 2019
melanoma
CUI: C0025202
Disease: melanoma
0.800 GeneticVariation BEFREE Cost-effectiveness of dabrafenib and trametinib in combination as adjuvant treatment of BRAF V600E/K mutation-positive melanoma from a US healthcare payer perspective. 31223037 2019
melanoma
CUI: C0025202
Disease: melanoma
0.800 GeneticVariation BEFREE Orthogonal partial least squares (O-PLS) predicted vemurafenib sensitivity with greater accuracy in both melanoma and non-melanoma BRAF-V600E cell lines than other leading machine learning methods, specifically Random Forests, Support Vector Regression (linear and quadratic kernels) and LASSO-penalized regression. 31672130 2019
melanoma
CUI: C0025202
Disease: melanoma
0.800 GeneticVariation BEFREE Here we assessed the role of urokinase type plasminogen activator receptor (uPAR) as a potentially valuable biomarker in the acquisition of BRAF-I resistance in V600E mutant melanoma cells. 30611716 2019
melanoma
CUI: C0025202
Disease: melanoma
0.800 GeneticVariation BEFREE Here, we tested the BETi, PLX51107, for immune-based effects on tumor growth in BRAF V600E melanoma syngeneic models. 31063649 2019
melanoma
CUI: C0025202
Disease: melanoma
0.800 GeneticVariation BEFREE The presence of a BRAF V600E mutation and activation of ERK, MEK, S6, and AKT were assessed with immunohistochemistry in 35 conjunctival nevi and 31 melanomas. 31247083 2019
melanoma
CUI: C0025202
Disease: melanoma
0.800 GeneticVariation BEFREE The US Food and Drug Administration approved a liquid biopsy test for EGFR-activating mutations in patients with non-small-cell lung cancer as a companion diagnostic for therapy selection. ctDNA also allows for the identification of mutations selected by treatment such as EGFR T790M in non-small-cell lung cancer. ctDNA can also detect mutations such as KRAS G12V in colorectal cancer and BRAF V600E/V600K in melanoma. 30883505 2019
melanoma
CUI: C0025202
Disease: melanoma
0.800 GeneticVariation BEFREE The most prevalent BRAF mutation, V600E, occurs frequently in melanoma and other cancers. 31152574 2019
melanoma
CUI: C0025202
Disease: melanoma
0.800 GeneticVariation BEFREE Specific mutations of RAF kinases, such as the prevalent BRAF(V600E) mutation in melanoma, or defects in upstream signaling or feedback loops cause decoupled kinase activities which lead to tumorigenesis. 28466200 2019
melanoma
CUI: C0025202
Disease: melanoma
0.800 GeneticVariation BEFREE AHR activation induces the expression of resistance genes against the inhibitors of V600E mutated B-Raf proto-oncogene, serine/threonine kinase (BRAF) in melanoma and upregulation of programmed cell death protein 1 (PD-1) in tumor-infiltrating T cells surrounding melanoma. 31552251 2019
melanoma
CUI: C0025202
Disease: melanoma
0.800 GeneticVariation BEFREE Here, we present a case of pulmonary melanocytic nevus, involving a BRAF gene mutation (V600E), and we discuss the potential significance of this condition as a precursor to pulmonary malignant melanoma. 31556191 2019
melanoma
CUI: C0025202
Disease: melanoma
0.800 GeneticVariation BEFREE Correlative preclinical studies demonstrated broad activity for E6201 across BRAF V600E mutant melanoma cell lines and effective BBB penetration in vivo. 30264293 2019
melanoma
CUI: C0025202
Disease: melanoma
0.800 GeneticVariation BEFREE This study thus defined SPRY4 as a potential mediator of synthetic suppression, which is likely to contribute to the observed exclusivity between BRAF(V600E) and NRAS(Q61R) mutations in melanoma. 30651601 2019
melanoma
CUI: C0025202
Disease: melanoma
0.800 GeneticVariation BEFREE Accordingly, we evaluated the phenotypical and molecular changes of isogeneic human V600E BRAF-mutant melanoma cell line pairs pre- and post-treatment with vemurafenib. 31514305 2019
melanoma
CUI: C0025202
Disease: melanoma
0.800 GeneticVariation BEFREE BRAF inhibitors target the BRAF-V600E/K mutated kinase, the driver mutation found in 50% of cutaneous melanoma. 30429474 2018
melanoma
CUI: C0025202
Disease: melanoma
0.800 GeneticVariation BEFREE This study evaluated the safety and tolerability, pharmacokinetics (PK) and preliminary efficacy of dabrafenib 150 mg b.i.d. plus trametinib 2 mg q.d. in Japanese patients with BRAF V600E/K mutant solid tumors (phase 1) and melanoma (phase 2). 29399853 2018
melanoma
CUI: C0025202
Disease: melanoma
0.800 GeneticVariation BEFREE A novel RFLP-ARMS TaqMan PCR-based method for detecting the BRAF V600E mutation in melanoma. 30008844 2018
melanoma
CUI: C0025202
Disease: melanoma
0.800 GeneticVariation BEFREE K63-linked ubiquitination occurs in other kinases at sites homologous to K147 in IKKβ, including K578 in BRAF V600E, which serves as an oncogenic driver in melanoma and other cancers. 30335863 2018
melanoma
CUI: C0025202
Disease: melanoma
0.800 GeneticVariation BEFREE A subset of melanomas carrying a B-Raf proto-oncogene, serine/threonine kinase gene (BRAF) V600E mutation, which is the most common targetable mutation in melanoma, arise in association with a melanocytic nevus that is also harboring a BRAF V600E mutation. 29653212 2018