Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs113488022
rs113488022
0.100 GeneticVariation BEFREE V600E</span> mutation was identified in 94%, 89% and 72% of HCL cases by F-SSCP, HRM and Sanger sequencing, respectively. 25938346

2015

dbSNP: rs113488022
rs113488022
0.100 GeneticVariation BEFREE Mutation of BRAF V600E was pronounced in HCL, but "hairiness" was not linked to the mutation. 31538423

2019

dbSNP: rs113488022
rs113488022
0.100 GeneticVariation BEFREE A BRAF V600E mutation was detected in 17 (77.3%) of 22 HCL cases by PCR. 25511147

2015

dbSNP: rs113488022
rs113488022
0.100 GeneticVariation BEFREE Thus, in conjunction with prior data, our results suggest incorporation of BRAF V600E mutation analysis in the diagnostic workup of HCL cases. 22246856

2012

dbSNP: rs113488022
rs113488022
0.100 GeneticVariation BEFREE The intestinal lymphoma bears the BRAF V600E mutant, which is the molecular hallmark of HCL, being implicated in its pathogenesis. 31354304

2019

dbSNP: rs113488022
rs113488022
0.100 GeneticVariation BEFREE Recent studies have identified BRAF(V600E) mutations in most HCL patients, highlighting this abnormality as a molecular hallmark for this disease. 25960206

2015

dbSNP: rs113488022
rs113488022
0.100 GeneticVariation BEFREE Real-time detection of BRAF V600E mutation from archival hairy cell leukemia FFPE tissue by nanopore sequencing. 29238890

2018

dbSNP: rs113488022
rs113488022
0.100 GeneticVariation BEFREE In this issue of Blood, Pettirossi et al, including Drs Tiacci and Falini, who led the effort in 2011 defining the BRAF-V600E driving mutation in hairy cell leukemia (HCL),provide extensive laboratory studies showing that inhibitors of BRAF-V600E and/or mitogen-activated protein kinase kinase (MEK) reach their targets and cause HCL cell death 25700421

2015

dbSNP: rs113488022
rs113488022
0.100 GeneticVariation BEFREE Two V600E-negative HCL contained novel, potentially functionally relevant mutations in exon 11 (F468C and D449E), while one other HCL was BRAF wild-type in exons 2-17. 24433452

2014

dbSNP: rs113488022
rs113488022
0.100 GeneticVariation BEFREE The utility of BRAF V600E mutation-specific antibody VE1 for the diagnosis of hairy cell leukemia. 25511150

2015

dbSNP: rs113488022
rs113488022
0.100 GeneticVariation BEFREE Sensitive molecular assays for detecting BRAF V600E allow HCL (highly responsive to purine analogs) to be better distinguished from HCL-like disorders, which are treated differently. 27554081

2016

dbSNP: rs113488022
rs113488022
0.100 GeneticVariation BEFREE Importantly, SkE resensitized the PLX-4032-resistant 451Lu melanoma cell line (451Lu-R) and was more efficient than U0126, a MEK inhibitor, and PLX-4032 (PLX) at inducing the apoptosis of two hairy cell leukemia (HCL) patient samples carrying the B-Raf-V600E mutation. 23518796

2012

dbSNP: rs113488022
rs113488022
0.100 GeneticVariation BEFREE This report presents a patient with HCL and malignant melanoma with the BRAF p.V600E mutation, and discusses the successful treatment of both cancers with the BRAF inhibitor dabrafenib. 25583765

2015

dbSNP: rs113488022
rs113488022
0.100 GeneticVariation BEFREE In conclusion, immunohistochemical detection of the BRAF V600E mutant protein is highly sensitive and specific for the diagnosis of HCL. 25120816

2014

dbSNP: rs113488022
rs113488022
0.100 GeneticVariation BEFREE PCR and IHC were cheaper and identified V600E in 100 % of HCL cases. 30872385

2019

dbSNP: rs113488022
rs113488022
0.100 GeneticVariation BEFREE BRAF V600E is the genetic lesion underlying hairy-cell leukemia. 26352686

2015

dbSNP: rs113488022
rs113488022
0.100 GeneticVariation BEFREE They include the V600E BRAF mutation in hairy cell leukemia, the L265P MYD88 mutation in Waldenström macroglobulinemia, the G17V RHOA mutation in angioimmunoblastic T-cell lymphoma and peripheral T-cell lymphoma, not otherwise specified, and the Y640F//D661Y/V/H/I//N647I STAT3 mutations in T-cell large granular lymphocytic leukemia. 24689848

2014

dbSNP: rs113488022
rs113488022
0.100 GeneticVariation BEFREE CONCLUSIONS; The BRAF V600E mutation was present in all patients with HCL who were evaluated. 21663470

2011

dbSNP: rs113488022
rs113488022
0.100 GeneticVariation BEFREE Conversely, all 44 cases with neoplasms mimicking hair</span>y cell leukemia were devoid of BRAF-V600E</span> and none expressed phospho-ERK. 23349307

2013

dbSNP: rs113488022
rs113488022
0.100 GeneticVariation BEFREE Discovery of the BRAF V600E mutation as a disease-defining genetic event in hairy cell leukemia can be helpful in both differential diagnosis and treatment of this disease. 24789721

2014

dbSNP: rs113488022
rs113488022
0.100 GeneticVariation BEFREE We conclude that the BRAF V600E mutation is present in all patients with HCL and that, in combination with clinical and morphologic features, represents a reliable molecular marker for this condition. 22072557

2012

dbSNP: rs113488022
rs113488022
0.100 GeneticVariation BEFREE Many such genetic events have already demonstrated clinical utility, such as BRAF V600E that confers sensitivity to vemurafenib in patients with hairy cell leukemia. 29702524

2018

dbSNP: rs113488022
rs113488022
0.100 GeneticVariation BEFREE Advanced molecular techniques have identified distinct molecular aberrations in the Raf/MEK-ERK pathway and BRAF (V600E) mutations that drive the proliferation and survival of HCL B cells. 24652320

2014

dbSNP: rs113488022
rs113488022
0.100 GeneticVariation BEFREE Application of a BRAF V600E mutation-specific antibody for the diagnosis of hairy cell leukemia. 22531170

2012

dbSNP: rs113488022
rs113488022
0.100 GeneticVariation BEFREE The recent surge in next generation sequencing (NGS) technology has shed more light on the genetic landscape of SBCLs through characterization of numerous driver mutations including SF3B1 and NOTCH1 in CLL, ATM and CCND1 in MCL, KMT2D and EPHA7 in FL, MYD88 (L265P) in LPL, KLF2 and NOTCH2 in splenic MZL (SMZL) and BRAF (V600E) in HCL. 27121112

2016