rs121913377, BRAF

N. diseases: 480
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Hairy Cell Leukemia
CUI: C0023443
Disease: 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
Hairy Cell Leukemia
CUI: C0023443
Disease: Hairy Cell Leukemia
0.100 GeneticVariation BEFREE PCR and IHC were cheaper and identified V600E in 100 % of HCL cases. 30872385 2019
Hairy Cell Leukemia
CUI: C0023443
Disease: 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
Hairy Cell Leukemia
CUI: C0023443
Disease: 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
Hairy Cell Leukemia
CUI: C0023443
Disease: Hairy Cell Leukemia
0.100 GeneticVariation BEFREE Mutation of BRAF V600E was pronounced in HCL, but "hairiness" was not linked to the mutation. 31538423 2019
Hairy Cell Leukemia
CUI: C0023443
Disease: Hairy Cell Leukemia
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
Hairy Cell Leukemia
CUI: C0023443
Disease: Hairy Cell Leukemia
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
Hairy Cell Leukemia
CUI: C0023443
Disease: 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
Hairy Cell Leukemia
CUI: C0023443
Disease: Hairy Cell Leukemia
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
Hairy Cell Leukemia
CUI: C0023443
Disease: 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
Hairy Cell Leukemia
CUI: C0023443
Disease: Hairy Cell Leukemia
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
Hairy Cell Leukemia
CUI: C0023443
Disease: 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
Hairy Cell Leukemia
CUI: C0023443
Disease: 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
Hairy Cell Leukemia
CUI: C0023443
Disease: Hairy Cell Leukemia
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
Hairy Cell Leukemia
CUI: C0023443
Disease: Hairy Cell Leukemia
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
Hairy Cell Leukemia
CUI: C0023443
Disease: Hairy Cell Leukemia
0.100 GeneticVariation BEFREE BRAF V600E is the genetic lesion underlying hairy-cell leukemia. 26352686 2015
Hairy Cell Leukemia
CUI: C0023443
Disease: 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
Hairy Cell Leukemia
CUI: C0023443
Disease: Hairy Cell Leukemia
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
Hairy Cell Leukemia
CUI: C0023443
Disease: Hairy Cell Leukemia
0.100 GeneticVariation BEFREE The utility of BRAF V600E mutation-specific antibody VE1 for the diagnosis of hairy cell leukemia. 25511150 2015
Hairy Cell Leukemia
CUI: C0023443
Disease: Hairy Cell Leukemia
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
Hairy Cell Leukemia
CUI: C0023443
Disease: 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
Hairy Cell Leukemia
CUI: C0023443
Disease: 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
Hairy Cell Leukemia
CUI: C0023443
Disease: 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
Hairy Cell Leukemia
CUI: C0023443
Disease: 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
Hairy Cell Leukemia
CUI: C0023443
Disease: 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