rs113488022, BRAF

N. diseases: 490
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 CONCLUSIONS; The BRAF V600E mutation was present in all patients with HCL who were evaluated. 21663470 2011
Hairy Cell Leukemia
CUI: C0023443
Disease: Hairy Cell Leukemia
0.100 GeneticVariation BEFREE The BRAF V600E mutation has recently been described in all cases of hairy cell leukaemia (HCL). 21910720 2011
Hairy Cell Leukemia
CUI: C0023443
Disease: Hairy Cell Leukemia
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
Hairy Cell Leukemia
CUI: C0023443
Disease: 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
Hairy Cell Leukemia
CUI: C0023443
Disease: Hairy Cell Leukemia
0.100 GeneticVariation BEFREE Hairy cell leukemia has been shown to be strongly associated with the BRAF V600E mutation. 22133769 2012
Hairy Cell Leukemia
CUI: C0023443
Disease: Hairy Cell Leukemia
0.100 GeneticVariation BEFREE Both variant and IGHV4-34-expressing hairy cell leukemia lack the BRAF V600E mutation. 22210875 2012
Hairy Cell Leukemia
CUI: C0023443
Disease: Hairy Cell Leukemia
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
Hairy Cell Leukemia
CUI: C0023443
Disease: Hairy Cell Leukemia
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
Hairy Cell Leukemia
CUI: C0023443
Disease: 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
Hairy Cell Leukemia
CUI: C0023443
Disease: Hairy Cell Leukemia
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
Hairy Cell Leukemia
CUI: C0023443
Disease: Hairy Cell Leukemia
0.100 GeneticVariation BEFREE Application of a BRAF V600E mutation-specific antibody for the diagnosis of hairy cell leukemia. 22531170 2012
Hairy Cell Leukemia
CUI: C0023443
Disease: Hairy Cell Leukemia
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
Hairy Cell Leukemia
CUI: C0023443
Disease: Hairy Cell Leukemia
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
Hairy Cell Leukemia
CUI: C0023443
Disease: Hairy Cell Leukemia
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
Hairy Cell Leukemia
CUI: C0023443
Disease: Hairy Cell Leukemia
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
Hairy Cell Leukemia
CUI: C0023443
Disease: Hairy Cell Leukemia
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
Hairy Cell Leukemia
CUI: C0023443
Disease: Hairy Cell Leukemia
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
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
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 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
Hairy Cell Leukemia
CUI: C0023443
Disease: 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
Hairy Cell Leukemia
CUI: C0023443
Disease: 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
Hairy Cell Leukemia
CUI: C0023443
Disease: 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
Hairy Cell Leukemia
CUI: C0023443
Disease: Hairy Cell Leukemia
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
Hairy Cell Leukemia
CUI: C0023443
Disease: Hairy Cell Leukemia
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