Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs113488022
rs113488022
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.800 GeneticVariation BEFREE No BRAF V600E was found in all follicular-patterned tumors. 29723601

2018

dbSNP: rs113488022
rs113488022
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.800 GeneticVariation BEFREE The entire coding region of RNF43 was Sanger sequenced in 24 colorectal cancers from 23 patients who either (i) carried a germline mutation in one of the DNA mismatch repair genes (MLH1, MSH6, MSH2, PMS2), or (ii) showed immunohistochemical loss of expression of one or more of the DNA mismatch repair proteins, was BRAF wild type at V600E, were under 60 years of age at diagnosis, and demonstrated no promoter region methylation for MLH1 in tumor DNA. 28573495

2018

dbSNP: rs113488022
rs113488022
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.800 GeneticVariation BEFREE Here we report that chondroitin-4-sulfate (CHSA), a natural glycosaminoglycan approved as a dietary supplement used for osteoarthritis, selectively promotes the tumor growth potential of BRAF V600E-expressing human melanoma cells in patient- and cell line-derived xenograft mice and confers resistance to BRAF inhibitors. 29547721

2018

dbSNP: rs113488022
rs113488022
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.800 GeneticVariation BEFREE Among CD34+ cases, we proposed a new entity of BRAF V600E positive HS and we described three hippocampal multinodular and vacuolating neuronal tumors. 29476662

2018

dbSNP: rs113488022
rs113488022
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.800 GeneticVariation BEFREE The expression of LIMD2 in primary tumors was correlated with the presence of BRAF V600E mutation (P = 0.0338). 29560564

2018

dbSNP: rs113488022
rs113488022
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.800 GeneticVariation BEFREE Multivariate logistic regression revealed that tumor size and BRAF V600E mutation were independent factors predicting the risk of requiring completion thyroidectomy. 29843911

2018

dbSNP: rs113488022
rs113488022
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.800 GeneticVariation BEFREE Non-V600E mutant-type showed better OS than V600E mutant-type (P = 0.038), with no significant difference compared with wild-type tumors. 30463788

2018

dbSNP: rs113488022
rs113488022
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.800 GeneticVariation BEFREE We previously reported that rMETase, administrated by intra-peritoneal injection (ip-rMETase), could inhibit tumor growth in a patient-derived orthotopic xenograft (PDOX) model of a BRAF-V600E mutant melanoma. 29187018

2018

dbSNP: rs113488022
rs113488022
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.800 GeneticVariation BEFREE CDKN2A/B deletion was present in similar proportion of PXA (83%), A-PXA (93%), BRAF V600E (87%), and wild-type (87%) tumors. 28181325

2018

dbSNP: rs113488022
rs113488022
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.800 GeneticVariation BEFREE It was demonstrated that in these tumors BRAF V600E mutated and that CDKN2A/B MTAP co-deletions may be used for stratifying patients for a stricter surveillance. 30558563

2018

dbSNP: rs113488022
rs113488022
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.800 GeneticVariation BEFREE Accordingly, the combination of MEK inhibitor with EGFR inhibitor was effective at shrinking tumors in mouse model of BRAF non-V600E mutant lung cancer. 29348459

2018

dbSNP: rs113488022
rs113488022
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.800 GeneticVariation BEFREE Next-generation sequencing (NGS) methods for detection of hallmark driver BRAF V600E mutations may help characterize such tumors in which histologic alterations preclude definitive tissue diagnosis. 29868707

2018

dbSNP: rs113488022
rs113488022
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.800 GeneticVariation BEFREE Multivariable models were adjusted for age, sex, tumor grade, pT/pN stage, tumor location, ECOG (Eastern Cooperative Oncology Group) performance status, and BRAF V600E mutational status. 28983557

2018

dbSNP: rs113488022
rs113488022
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.800 GeneticVariation BEFREE We demonstrate in this first series of midline GGs that the H3 K27M mutation can occur in association with the BRAF V600E mutation in grade I glioneuronal tumors. 27984673

2018

dbSNP: rs113488022
rs113488022
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.800 GeneticVariation BEFREE A quarter of tumors had a driver oncogene identified (EGFR/ALK/ROS1/BRAF V600E) with an approved oral targeted therapy, with the highest prevalence in those patients with no or light (≤15 pack-years) history of tobacco use. 29413057

2018

dbSNP: rs113488022
rs113488022
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.800 GeneticVariation BEFREE Tumor DNA was tested for microsatellite instability (MSI) and somatic mutations in oncogenes BRAF (V600E) and KRAS. 28921583

2018

dbSNP: rs113488022
rs113488022
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.800 GeneticVariation BEFREE This tumor had histologic and immunophenotypic features similar to the recently described PLNTY and proved BRAF V600E mutant. 29701169

2018

dbSNP: rs113488022
rs113488022
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.800 GeneticVariation BEFREE All tumors had a midline location (spinal cord n = 6, thalamus n = 5, brainstem n = 5, cerebellum n = 3, hypothalamus n = 1, and pineal region n = 1) and were IDH and BRAF-V600E wild type. 28201752

2017

dbSNP: rs113488022
rs113488022
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.800 GeneticVariation BEFREE Thus, testing for BRAF-V600E allows for a genetics-based differential diagnosis between HCL and HCL-like tumors, even noninvasively in routine blood samples. 28297625

2017

dbSNP: rs113488022
rs113488022
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.800 GeneticVariation BEFREE Here, we demonstrate the broad applicability of this recombination-based method and we proved its potential to identify new drug targets via the identification of the tumor suppressor DUSP6 as potential synthetic lethal target in melanoma cell lines with BRAF V600E mutations and high DUSP6 expression. 28423600

2017

dbSNP: rs113488022
rs113488022
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.800 GeneticVariation BEFREE Molecularly, xenograft cells with homozygous deletion of <i>CDKN2A</i> shifted from disomy chromosome 9 to trisomy chromosome 9; and <i>BRAF</i> V600E mutation allele frequency increased (from 28% in patient tumor to 67% in passage III xenografts). 29152094

2017

dbSNP: rs113488022
rs113488022
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.800 GeneticVariation BEFREE Thus, the aim of this study was to analyze BRAF V600E (VE1) protein expression with BRAF mutation status in codon 600, in malignant and benign salivary gland tumors. 27682157

2017

dbSNP: rs113488022
rs113488022
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.800 GeneticVariation BEFREE Tumor mismatch repair deficiency (MMR-D) and BRAF c.1799T > A (p.V600E) mutation status were also examined. 27821793

2017

dbSNP: rs113488022
rs113488022
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.800 GeneticVariation BEFREE Sorafenib (Nexavar), is a multikinase inhibitor, which has demonstrated both antiproliferative and antiangiogenic properties in vitro and in vivo, inhibiting the activity of targets present in the tumoral cells (c-RAF [proto-oncogene serine/threonine-protein kinase], BRAF, (V600E)BRAF, c-KIT, and FMS-like tyrosine kinase 3) and in tumor vessels (c-RAF, vascular endothelial growth factor receptor [VEGFR]-2, VEGFR-3, and platelet-derived growth factor receptor β). 26112458

2017

dbSNP: rs113488022
rs113488022
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.800 GeneticVariation BEFREE The patients had either near complete resolution of the primary tumor (BRAF p.Val600Glu) or a stable primary tumor (BRAF p.Val600Asp). 28784858

2017