Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
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 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 RAF is among the most frequently mutated kinases, where BRAF V600E mutation occurs in most hairy cell leukemias (HCL) and half of malignant melanomas. 25034364

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 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: 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 BRAF V600E is the genetic lesion underlying hairy-cell leukemia. 26352686

2015

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 On the basis of these results, an assay with high analytic sensitivity is required for the clinical detection of V600E mutations in HCL specimens. 24503706

2015

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 An extensive number of studies have documented the V600E mutation in nearly all HCL patients, but not in similar hematologic malignancies. 23892906

2013

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 BRAF-V600E was detected at different time points during the disease course, even after therapy, pointing to its pivotal role in HCL pathogenesis and maintenance of the leukemic clone. 22028477

2012

dbSNP: rs113488022
rs113488022
0.100 GeneticVariation BEFREE Diagnostically, the BRAF(V600E) mutation is a powerful molecular marker for papillary thyroid carcinoma and, quite possibly, hairy cell leukemia as well. 22369373

2012

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 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: rs113488022
rs113488022
0.100 GeneticVariation BEFREE The BRAF V600E mutation has recently been described in all cases of hairy cell leukaemia (HCL). 21910720

2011

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 CONCLUSIONS; The BRAF V600E mutation was present in all patients with HCL who were evaluated. 21663470

2011

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 PCR and IHC were cheaper and identified V600E in 100 % of HCL cases. 30872385

2019

dbSNP: rs113488022
rs113488022
0.100 GeneticVariation BEFREE Moreover, our pyrosequencing-based assay provides a convenient, rapid, sensitive, and quantitative tool for the detection of BRAF p.V600E mutations in HCL for clinical diagnostic testing. 22706871

2012

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 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 Hairy cell leukemia has been shown to be strongly associated with the BRAF V600E mutation. 22133769

2012