Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs113488022
rs113488022
0.100 GeneticVariation BEFREE Mutation of BRAF V600E was pronounced in HCL, but "hairiness" was not linked to the mutation. 31538423

2019

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

2019

dbSNP: rs113488022
rs113488022
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: rs113488022
rs113488022
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
0.100 GeneticVariation BEFREE PCR and IHC were cheaper and identified V600E in 100 % of HCL cases. 30872385

2019

dbSNP: rs121913377
rs121913377
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
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
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
0.100 GeneticVariation BEFREE Mutation of BRAF V600E was pronounced in HCL, but "hairiness" was not linked to the mutation. 31538423

2019

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 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

dbSNP: rs113488022
rs113488022
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

dbSNP: rs113488022
rs113488022
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

dbSNP: rs121913377
rs121913377
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
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

dbSNP: rs121913377
rs121913377
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

dbSNP: rs121913377
rs121913377
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

dbSNP: rs113488022
rs113488022
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

dbSNP: rs113488022
rs113488022
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

dbSNP: rs113488022
rs113488022
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
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
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

dbSNP: rs121913377
rs121913377
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

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