Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs116446171
rs116446171
G 0.710 GeneticVariation GWASCAT We conduct a two-stage genome-wide association study of WM/LPL in 530 unrelated cases and 4362 controls of European ancestry and identify two high-risk loci associated with WM/LPL at 6p25.3 (rs116446171, near EXOC2 and IRF4; OR = 21.14, 95% CI: 14.40-31.03, P = 1.36 × 10<sup>-54</sup>) and 14q32.13 (rs117410836, near TCL1; OR = 4.90, 95% CI: 3.45-6.96, P = 8.75 × 10<sup>-19</sup>). 30305637

2018

dbSNP: rs116446171
rs116446171
0.710 GeneticVariation BEFREE We conduct a two-stage genome-wide association study of WM/LPL in 530 unrelated cases and 4362 controls of European ancestry and identify two high-risk loci associated with WM/LPL at 6p25.3 (rs116446171, near EXOC2 and IRF4; OR = 21.14, 95% CI: 14.40-31.03, P = 1.36 × 10<sup>-54</sup>) and 14q32.13 (rs117410836, near TCL1; OR = 4.90, 95% CI: 3.45-6.96, P = 8.75 × 10<sup>-19</sup>). 30305637

2018

dbSNP: rs117410836
rs117410836
C 0.710 GeneticVariation GWASCAT We conduct a two-stage genome-wide association study of WM/LPL in 530 unrelated cases and 4362 controls of European ancestry and identify two high-risk loci associated with WM/LPL at 6p25.3 (rs116446171, near EXOC2 and IRF4; OR = 21.14, 95% CI: 14.40-31.03, P = 1.36 × 10<sup>-54</sup>) and 14q32.13 (rs117410836, near TCL1; OR = 4.90, 95% CI: 3.45-6.96, P = 8.75 × 10<sup>-19</sup>). 30305637

2018

dbSNP: rs117410836
rs117410836
0.710 GeneticVariation BEFREE We conduct a two-stage genome-wide association study of WM/LPL in 530 unrelated cases and 4362 controls of European ancestry and identify two high-risk loci associated with WM/LPL at 6p25.3 (rs116446171, near EXOC2 and IRF4; OR = 21.14, 95% CI: 14.40-31.03, P = 1.36 × 10<sup>-54</sup>) and 14q32.13 (rs117410836, near TCL1; OR = 4.90, 95% CI: 3.45-6.96, P = 8.75 × 10<sup>-19</sup>). 30305637

2018

dbSNP: rs179159
rs179159
A 0.700 GeneticVariation GWASCAT Two high-risk susceptibility loci at 6p25.3 and 14q32.13 for Waldenström macroglobulinemia. 30305637

2018

dbSNP: rs387907272
rs387907272
0.100 GeneticVariation BEFREE <i>Results</i>: MYD88 L265P mutations were detected in 22 of 29 samples from 14 patients with diffuse large B-cell lymphomas and one patient with lymphoplasmacytoid lymphoma. 31603365

2019

dbSNP: rs387907272
rs387907272
0.100 GeneticVariation BEFREE Detection of MYD88 L265P mutation by next-generation deep sequencing in peripheral blood mononuclear cells of Waldenström's macroglobulinemia and IgM monoclonal gammopathy of undetermined significance. 31483817

2019

dbSNP: rs387907272
rs387907272
0.100 GeneticVariation BEFREE The diagnosis of WM is established by the presence of lymphoplasmacytic lymphoma in the bone marrow or other organs, a monoclonal IgM paraproteinemia and the recurrent MYD88 L265P somatic mutation. 31591468

2019

dbSNP: rs387907272
rs387907272
0.100 GeneticVariation BEFREE High frequencies of the hotspot <i>MYD88</i>(L265P) mutation are observed in extranodal diffuse large B-cell lymphoma and Waldenström macroglobulinemia, thereby demonstrating this mutation's potential as a disease marker. 31699794

2019

dbSNP: rs387907272
rs387907272
0.100 GeneticVariation BEFREE The diagnosis of Waldenström Macroglobulinaemia (WM)/lymphoplasmacytic lymphoma (LPL) remains one of exclusion because other B-cell lymphoproliferative disorders (B-LPD), such as marginal zone lymphoma (MZL), can fulfil similar criteria, including MYD88 L265P mutation. 30198568

2019

dbSNP: rs387907272
rs387907272
0.100 GeneticVariation BEFREE In conclusion, in this small case series we showed that MYD88 L265P mutation analysis could serve as a useful adjunct in distinguishing benign from lymphomatous PE in patients with LPL. 31556196

2019

dbSNP: rs387907272
rs387907272
0.100 GeneticVariation BEFREE Nine of these samples tested positive for MYD88 p.(L265P) (8 LPL and 1 PCNSL). 29210102

2018

dbSNP: rs387907272
rs387907272
0.100 GeneticVariation BEFREE The MYD88 L265P mutation is present in nearly 90% of patients with Waldenström macroglobulinemia. 30190015

2018

dbSNP: rs387907272
rs387907272
0.100 GeneticVariation BEFREE Few cancers such as WM</span> have a single amino acid substitution in one gene like MYD88 L265P that occurs in ∼90% of cases, making WM </span>paradigmatic for study of a single causative mutation in oncogenesis. 29703722

2018

dbSNP: rs387907272
rs387907272
0.100 GeneticVariation BEFREE The MYD88 missense mutation c.794T>C, p.Leu265Pro, is found in patients with Waldenstörm's macroglobulinemia and lymphoma. 28042684

2017

dbSNP: rs387907272
rs387907272
0.100 GeneticVariation BEFREE Patients with the mutated MYD88 L265P genotype with WM and MZL were compared. 28280994

2017

dbSNP: rs387907272
rs387907272
0.100 GeneticVariation BEFREE MYD88 L265P mutation in cutaneous involvement by Waldenström macroglobulinemia. 28370087

2017

dbSNP: rs387907272
rs387907272
0.100 GeneticVariation BEFREE The revised 2016 World Health Organization classification includes the MYD88 L265P mutation, which is seen in >90% of cases, within the diagnostic criteria for WM. 28076910

2017

dbSNP: rs387907272
rs387907272
0.100 GeneticVariation BEFREE The present study demonstrates that MYD-88 L265P mutation may represent the only sensitive marker for the differentiation of CBL-MZ from probable WM. 27734522

2017

dbSNP: rs387907272
rs387907272
0.100 GeneticVariation BEFREE The detection in the cerebrospinal fluid of patients with Bing-Neel syndrome of the MYD88 (L265P) somatic mutation, which is highly recurrent in Waldenström's Macroglobulinemia, proved useful for the diagnosis and monitoring of central nervous system involvement. 29181138

2017

dbSNP: rs387907272
rs387907272
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

dbSNP: rs387907272
rs387907272
0.100 GeneticVariation BEFREE Whole genome sequencing has identified somatic mutations in the CXCR4 gene in ∼29% of WM cases with MYD88(L265P). 27268124

2016

dbSNP: rs387907272
rs387907272
0.100 GeneticVariation BEFREE The findings show that CXCR4(WHIM) mutations are more common in WM than previously revealed, and are primarily subclonal, supporting their acquisition after MYD88(L265P) in WM oncogenesis. 26659815

2016

dbSNP: rs387907272
rs387907272
0.100 GeneticVariation BEFREE Identical clonal origin was confirmed by PCR for 21 LPL/WM cases and MYD88 L265P was detected in both B-cell and plasma cell fractions. 27890075

2016

dbSNP: rs387907272
rs387907272
0.100 GeneticVariation BEFREE Whole-genome sequencing has revealed MYD88 L265P and CXCR4 mutations (CXCR4(mut)) as the most prevalent somatic mutations in Waldenström macroglobulinemia. 26490317

2016