Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121913377
rs121913377
CUI: C0023443
Disease: Hairy Cell Leukemia
Hairy Cell Leukemia
0.100 GeneticVariation BEFREE PCR and IHC were cheaper and identified V600E in 100 % of HCL cases. 30872385

2019

dbSNP: rs121913377
rs121913377
CUI: C0023443
Disease: Hairy Cell Leukemia
Hairy Cell Leukemia
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
CUI: C0023443
Disease: Hairy Cell Leukemia
Hairy Cell Leukemia
0.100 GeneticVariation BEFREE Application of a BRAF V600E mutation-specific antibody for the diagnosis of hairy cell leukemia. 22531170

2012

dbSNP: rs121913377
rs121913377
CUI: C0023443
Disease: Hairy Cell Leukemia
Hairy Cell Leukemia
0.100 GeneticVariation BEFREE Hairy cell leukemia has been shown to be strongly associated with the BRAF V600E mutation. 22133769

2012

dbSNP: rs121913377
rs121913377
CUI: C0023443
Disease: Hairy Cell Leukemia
Hairy Cell Leukemia
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

dbSNP: rs121913377
rs121913377
CUI: C0023443
Disease: Hairy Cell Leukemia
Hairy Cell Leukemia
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: rs121913377
rs121913377
CUI: C0023443
Disease: Hairy Cell Leukemia
Hairy Cell Leukemia
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: rs121913377
rs121913377
CUI: C0023443
Disease: Hairy Cell Leukemia
Hairy Cell Leukemia
0.100 GeneticVariation BEFREE BRAF V600E is the genetic lesion underlying hairy-cell leukemia. 26352686

2015

dbSNP: rs121913377
rs121913377
CUI: C0023443
Disease: Hairy Cell Leukemia
Hairy Cell Leukemia
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: rs121913377
rs121913377
CUI: C0023443
Disease: Hairy Cell Leukemia
Hairy Cell Leukemia
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: rs121913377
rs121913377
CUI: C0023443
Disease: Hairy Cell Leukemia
Hairy Cell Leukemia
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: rs121913377
rs121913377
CUI: C0023443
Disease: Hairy Cell Leukemia
Hairy Cell Leukemia
0.100 GeneticVariation BEFREE CONCLUSIONS; The BRAF V600E mutation was present in all patients with HCL who were evaluated. 21663470

2011

dbSNP: rs121913377
rs121913377
CUI: C0023443
Disease: Hairy Cell Leukemia
Hairy Cell Leukemia
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: rs121913377
rs121913377
CUI: C0023443
Disease: Hairy Cell Leukemia
Hairy Cell Leukemia
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: rs121913377
rs121913377
CUI: C0023443
Disease: Hairy Cell Leukemia
Hairy Cell Leukemia
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: rs121913377
rs121913377
CUI: C0023443
Disease: Hairy Cell Leukemia
Hairy Cell Leukemia
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: rs121913377
rs121913377
CUI: C0023443
Disease: Hairy Cell Leukemia
Hairy Cell Leukemia
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: rs121913377
rs121913377
CUI: C0023443
Disease: Hairy Cell Leukemia
Hairy Cell Leukemia
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: rs121913377
rs121913377
CUI: C0023443
Disease: Hairy Cell Leukemia
Hairy Cell Leukemia
0.100 GeneticVariation BEFREE Real-time detection of BRAF V600E mutation from archival hairy cell leukemia FFPE tissue by nanopore sequencing. 29238890

2018

dbSNP: rs121913377
rs121913377
CUI: C0023443
Disease: Hairy Cell Leukemia
Hairy Cell Leukemia
0.100 GeneticVariation BEFREE Both variant and IGHV4-34-expressing hairy cell leukemia lack the BRAF V600E mutation. 22210875

2012

dbSNP: rs121913377
rs121913377
CUI: C0023443
Disease: Hairy Cell Leukemia
Hairy Cell Leukemia
0.100 GeneticVariation BEFREE In 2011, the V600E mutation of the BRAF gene in exon 15 was identified in HCL; being present in HCL, it is absent in the variant form of HCL (HCL-v) and in splenic red pulp lymphoma (SRPL), two entities related to HCL. 24994538

2014

dbSNP: rs121913377
rs121913377
CUI: C0023443
Disease: Hairy Cell Leukemia
Hairy Cell Leukemia
0.100 GeneticVariation BEFREE A BRAF V600E mutation was detected in 17 (77.3%) of 22 HCL cases by PCR. 25511147

2015

dbSNP: rs121913377
rs121913377
CUI: C0023443
Disease: Hairy Cell Leukemia
Hairy Cell Leukemia
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: rs121913377
rs121913377
CUI: C0023443
Disease: Hairy Cell Leukemia
Hairy Cell Leukemia
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: rs121913377
rs121913377
CUI: C0023443
Disease: Hairy Cell Leukemia
Hairy Cell Leukemia
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