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

2011

dbSNP: rs113488022
rs113488022
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: rs113488022
rs113488022
CUI: C0023443
Disease: Hairy Cell Leukemia
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

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 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 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 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 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: rs121913377
rs121913377
CUI: C0023443
Disease: Hairy Cell Leukemia
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

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

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

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

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

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

dbSNP: rs113488022
rs113488022
CUI: C0023443
Disease: Hairy Cell Leukemia
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

dbSNP: rs113488022
rs113488022
CUI: C0023443
Disease: Hairy Cell Leukemia
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

dbSNP: rs113488022
rs113488022
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: rs113488022
rs113488022
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: rs113488022
rs113488022
CUI: C0023443
Disease: Hairy Cell Leukemia
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

dbSNP: rs113488022
rs113488022
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: rs113488022
rs113488022
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: rs113488022
rs113488022
CUI: C0023443
Disease: Hairy Cell Leukemia
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

dbSNP: rs113488022
rs113488022
CUI: C0023443
Disease: Hairy Cell Leukemia
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