Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs387907272
rs387907272
0.080 GeneticVariation BEFREE In a case-control study, 100 patients with CLL and 105 healthy individuals were investigated for Notch homolog 1, translocation-associated (<i>Drosophila</i>) (NOTCH1) c.7544-7545delCT, recombinant splicing factor 3B subunit 1 (SF3B1) c.2098A>G, mouse double minute 2 homolog (MDM2) 40-bp insertion/deletion and myeloid differentiation primary response 88 (MYD88) L265P mutations by using allele specific-polymerase chain reaction (AS-PCR), a designed AS-PCR, PCR and PCR-restriction fragment length polymorphism methods, respectively. 30930998

2019

dbSNP: rs387907272
rs387907272
0.080 GeneticVariation BEFREE To determine whether MYD88 L265P mutations can be therapeutically exploited in CLL, we treated primary cells with an inhibitor of interleukin 1 receptor-associated kinase 4 (IRAK4), a critical effector of the MYD88 pathway. 30537114

2019

dbSNP: rs387907272
rs387907272
0.080 GeneticVariation BEFREE A plasmid with an MYD88-L265P mutation was constructed, and the p.L265P substitution, which is the predominant <i>MYD88</i> mutation in CLL, was detected using HRM analysis and direct sequencing. 31289558

2019

dbSNP: rs387907272
rs387907272
0.080 GeneticVariation BEFREE We identified the L265P hotspot mutation in 86% (n=67/78) of our LPL and 2% (n=12/767) of our CLL cohort. 27840426

2017

dbSNP: rs387907272
rs387907272
0.080 GeneticVariation BEFREE MYD88 L265P was found in 49/51 (96%) LPL cases and in 1/13 (7·6%) MZL (splenic type), whereas all CLL samples remained negative. 25819228

2015

dbSNP: rs387907272
rs387907272
0.080 GeneticVariation BEFREE MYD88 L265P mutation has been reported in ∼90% of Waldenström's Macroglobulinemia (WM) patients and immunoglobulin M (IgM) monoclonal gammopathies of uncertain significance (MGUS), as well as in some cases of lymphoma and chronic lymphocytic leukemia. 24992174

2015

dbSNP: rs387907272
rs387907272
0.080 GeneticVariation BEFREE Thus, pyrosequencing for the MYD88 L265P mutation demonstrates a high clinical sensitivity and specificity to distinguish LPL from MZL and CLL. 26230596

2015

dbSNP: rs387907272
rs387907272
0.080 GeneticVariation BEFREE Recurrent L265P mutation of myeloid differentiation primary response gene 88 (MYD88) has been identified in a proportion of diffuse large B-cell lymphoma (DLBCL) and chronic lymphocytic leukemia. 23178471

2013