rs121913377, BRAF

N. diseases: 480
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Neoplasms
CUI: C0027651
Disease: Neoplasms
0.100 GeneticVariation BEFREE Half of the tumors in our patient cohort were V600-wildtype and half were V600E mutant.All tumors expressed PD-L1. 31819973 2020
Neoplasms
CUI: C0027651
Disease: Neoplasms
0.100 GeneticVariation BEFREE PA and GG BRAF V600E-mutant had significantly lower rADCmean (p < 0.001) and rADCmin (p < 0.001) values than wild type, regardless of tumor histology and location. 31667545 2020
Neoplasms
CUI: C0027651
Disease: Neoplasms
0.100 GeneticVariation BEFREE We then knocked a mutation into BRAF encoding the V600E substitution and overexpressed the GREM1 transgene; the organoids were transplanted into colons of NOG mice and growth of xenograft tumors was measured. 31622618 2020
Neoplasms
CUI: C0027651
Disease: Neoplasms
0.100 GeneticVariation BEFREE Specifically, the "BRAF-like" subtype was enriched in invasive FV-PTCs and tumors with BRAF V600E mutations. 30645670 2019
Neoplasms
CUI: C0027651
Disease: Neoplasms
0.100 GeneticVariation BEFREE Conversely, the BRAF V600E, found in 15% of pediatric PTC patients, was correlated with older age and larger tumor size. 30924609 2019
Neoplasms
CUI: C0027651
Disease: Neoplasms
0.100 GeneticVariation BEFREE Dual mitogen-activated protein kinase (MAPK) pathway inhibition of BRAF V600E/K and MEK 1/2 kinases with BRAF-MEK inhibitors using dabrafenib-trametinib, vemurafenib-cobimetinib and encorafenib-binimetinib is now the standard of care for BRAF V600E/K tumours. 30868471 2019
Neoplasms
CUI: C0027651
Disease: Neoplasms
0.100 GeneticVariation BEFREE In the 8 patients (4 men) included in analysis, 4 subgroups of CM were observed, including the BRAF V600E mutation in 1 tumor, NRAS Q61R mutation in 3 tumors, NF1 mutations (Q1188X, R440X, or M1215K+ S15fs) in 3 tumors, and triple-wild type (triple-WT) in 1 tumor. 31647501 2019
Neoplasms
CUI: C0027651
Disease: Neoplasms
0.100 GeneticVariation BEFREE BRAF V600E mutant oligodendroglioma-like tumors with chromosomal instability in adolescents and young adults. 31630459 2019
Neoplasms
CUI: C0027651
Disease: Neoplasms
0.100 GeneticVariation BEFREE Coexisting BRAF V600E and TERT hotspot promoter mutations were detected in 9.5% (54/568) of patients, and significantly associated with older patient age (P = 0.001), gross extrathyroidal extension (P = 0.003), tumor stage pT3-4 (P = 0.005), stage II to IV (P = 0.019), intermediate or high initial risk (P = 0.003), worse than excellent response to primary therapy (P = 0.045), recurrence (P = 0.015), and final outcome of no remission (P = 0.014). 31305897 2019
Neoplasms
CUI: C0027651
Disease: Neoplasms
0.100 GeneticVariation BEFREE Fifty-eight patient tumors (56%) harbored a non-E/K V600 mutation, 38 (37%) a non-V600 mutation, and seven had both V600E and a rare <i>BRAF</i> mutation (7%). 31580757 2019
Neoplasms
CUI: C0027651
Disease: Neoplasms
0.100 GeneticVariation BEFREE In the present report we describe a BRAF V600E-mutated tumor with divergent morphological appearance comprising of anaplastic pleomorphic xanthoastrocytoma and astroblastoma. 30557911 2019
Neoplasms
CUI: C0027651
Disease: Neoplasms
0.100 GeneticVariation BEFREE In this scenario, we simulated and analyzed the dynamics of BRAF V600E melanoma patients treated with BRAF inhibitors in order to find potentially interesting targets that may make standard treatments more effective in particularly aggressive tumors that may not respond to selective inhibitor drugs. 28767374 2019
Neoplasms
CUI: C0027651
Disease: Neoplasms
0.100 GeneticVariation BEFREE The tumor was diffusely CD34 positive with moderate glial fibrillary acidic protein and retained ATRX staining, and demonstrated the presence of the BRAF V600E mutation. 31520766 2019
Neoplasms
CUI: C0027651
Disease: Neoplasms
0.100 GeneticVariation BEFREE From this cohort, we tested the predictive value of common clinicopathological parameters (ulceration, mitotic count and tumor regression) and FMNL-2, ezrin and BRAF V600E immunoreactivity, for sentinel node involvement and survival. 31039200 2019
Neoplasms
CUI: C0027651
Disease: Neoplasms
0.100 GeneticVariation BEFREE Immunohistochemistry for Braf V600E paralleled the molecular findings, demonstrating immunoreactivity in both the WT and MA-like areas of all 4 of these neoplasms. 31192863 2019
Neoplasms
CUI: C0027651
Disease: Neoplasms
0.100 GeneticVariation BEFREE BRAF V600E and SRC mutations were mutually exclusive, and SRC mutation was significantly associated with left-sided tumor and liver metastasis compared to BRAF V600E mutation (P = 0.016 and P = 0.025, respectively). 30792536 2019
Neoplasms
CUI: C0027651
Disease: Neoplasms
0.100 GeneticVariation BEFREE Molecular analysis of a previously surgically removed tumor showed a BRAF V600E mutation and thus, combined targeted inhibition of the MAPK/ERK signaling pathway using a BRAF inhibitor and a MEK inhibitor was started. 31262927 2019
Neoplasms
CUI: C0027651
Disease: Neoplasms
0.100 GeneticVariation BEFREE A molecular screening of the tumor revealed a BRAF V600E mutation. 31781502 2019
Neoplasms
CUI: C0027651
Disease: Neoplasms
0.100 GeneticVariation BEFREE BRAF V600E was found to influence the composition of the so-called tumour microenvironment modulating both solid (immune-cell infiltration) and soluble (chemokines) mediators, which balance characterize the ultimate behaviour of the tumour, making it more or less aggressive. 31762942 2019
Neoplasms
CUI: C0027651
Disease: Neoplasms
0.100 GeneticVariation BEFREE All the tumors were IDH wild-type, BRAF (V600E)-immunonegative and unmethylated for MGMT promoter. 30937985 2019
Neoplasms
CUI: C0027651
Disease: Neoplasms
0.100 GeneticVariation BEFREE BRAF V600E Mutation Across Multiple Tumor Types: Correlation Between DNA-based Sequencing and Mutation-specific Immunohistochemistry. 29271794 2019
Neoplasms
CUI: C0027651
Disease: Neoplasms
0.100 GeneticVariation BEFREE We analyzed mutations of BRAF (V600E) and TERT promoter (C228T, C250T) in tumor DNA from 141 patients (75 with classical variant PTC, CVPTC; 66 with follicular variant PTC, FVPTC) recruited through a multi-center study. 31454788 2019
Neoplasms
CUI: C0027651
Disease: Neoplasms
0.100 GeneticVariation BEFREE Whole exome and transcriptome sequencing revealed a high mutational burden tumor (22 mutations/Megabase) with homozygous BRAF V600E mutation. 30264293 2019
Neoplasms
CUI: C0027651
Disease: Neoplasms
0.100 GeneticVariation BEFREE Moreover, a 47-year-old female with a recurrent adenocarcinoma and a BRAF V600E mutation exhibited tumor regression after a fourth line therapy with dabrafenib and trametinib, targeting agents against BRAF mutations. 31440061 2019
Neoplasms
CUI: C0027651
Disease: Neoplasms
0.100 GeneticVariation BEFREE Tumor immunohistochemical (IHC) MMR for protein expression and microsatellite instability (MSI) status were evaluated, and in those with loss of MLH1 expression by IHC, somatic BRAF V600E mutation and both somatic and germline MLH1 methylation levels were studied. 30693488 2019