Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs113488022
rs113488022
0.100 GeneticVariation BEFREE Both variant and IGHV4-34-expressing hairy cell leukemia lack the BRAF V600E mutation. 22210875

2012

dbSNP: rs113488022
rs113488022
0.100 GeneticVariation BEFREE Recently, the BRAF V600E mutation was uniformly identified in one HCL series, which may provide insights into the pathogenic mechanisms. 22212971

2012

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 Our results confirm that BRAF V600E-positive HCL is a relatively rare disorder in the Japanese leukemia patient population. 30043333

2018

dbSNP: rs113488022
rs113488022
0.100 GeneticVariation BEFREE We conclude that the presence of pERK as detected by immunohistochemical staining is a useful surrogate marker for BRAF V600E in the diagnosis of HCL. 23211289

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 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 The presence of the BRAF c.1799T>A V600E mutation was recently described in cases of hairy cell leukemia (HCL) but not in other common lymphomas. 23161722

2012

dbSNP: rs113488022
rs113488022
0.100 GeneticVariation BEFREE A high degree of correlation was noted between the presence of BRAF V600E and established diagnostic criteria in 26/27 patients with HCL/HCL variant. 22313586

2012

dbSNP: rs113488022
rs113488022
0.100 GeneticVariation BEFREE Areas covered: Herein the authors review the role of BRAF V600E and RAF-MEK-ERK signaling in the pathogenesis of HCL, anecdotal clinical reports of BRAF inhibitor monotherapy in management of relapsed or refractory HCL, larger phase 2 trials investigating efficacy of BRAF inhibitor therapy for HCL, adverse effects commonly associated with BRAF inhibitor therapy, including cutaneous toxicity, and mechanisms of therapeutic resistance. 30782032

2019

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 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 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 Diagnosis of HCL is based on morphological evidence of hairy cells, an HCL immunologic score of 3 or 4 based on the CD11C, CD103, CD123, and CD25 expression, the trephine biopsy which makes it possible to specify the degree of tumoral medullary infiltration and the presence of BRAF V600E somatic mutation. 29110361

2017

dbSNP: rs113488022
rs113488022
0.100 GeneticVariation BEFREE Identification of the BRAF-V600E kinase mutation as the genetic cause of HCL has opened the way, in the relapsed/refractory experimental setting, to targeted and non-myelotoxic effective strategies that are based on inhibition of BRAF with vemurafenib, co-inhibition of BRAF and its target MEK with dabrafenib and trametinib, and BRAF inhibition with vemurafenib combined with anti-CD20 immunotherapy. 31187521

2019

dbSNP: rs113488022
rs113488022
0.100 GeneticVariation BEFREE The detection of BRAF V600E by IHC is useful in the distinction of HCLs from other splenic-based lymphomas, although the identification of at least rare SMZLs containing this abnormality illustrates the continuing need for a multiparameter approach to diagnosis. 26071465

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 Hairy cell leukemia (HCL) is a rare, low-grade mature B-cell neoplasm with a characteristic clinical, morphological, immunophenotypic, and more recently described molecular (BRAF p.V600E mutation) profile. 30197362

2018

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 Recently, the BRAF V600E mutation was identified in most patients with classical HCL, resulting in constitutive mitogen-activated protein kinase pathway activation; impressive responses are achieved in heavily pre-treated patients with BRAF inhibition. 28146266

2017

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 Accompanying mutations of the KLF2 transcription factor or the CDKN1B/p27 cell cycle inhibitor are recurrent in 16% of patients with HCL and likely cooperate with BRAF-V600E in HCL pathogenesis. 28297625

2017

dbSNP: rs113488022
rs113488022
0.100 GeneticVariation BEFREE The discovery of the BRAF V600E mutation in most cases of classical hairy cell leukemia opens up unique opportunities for tumor specific treatment of HCL targeting the MEK/ERK signaling pathway. 26614903

2015

dbSNP: rs121913377
rs121913377
0.100 GeneticVariation BEFREE Hairy cell leukemia has been shown to be strongly associated with the BRAF V600E mutation. 22133769

2012

dbSNP: rs121913377
rs121913377
0.100 GeneticVariation BEFREE The presence of the BRAF c.1799T>A V600E mutation was recently described in cases of hairy cell leukemia (HCL) but not in other common lymphomas. 23161722

2012