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 |
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 |
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 |
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 |
rs179159
|
|
A |
0.700 |
GeneticVariation |
GWASCAT |
Two high-risk susceptibility loci at 6p25.3 and 14q32.13 for Waldenström macroglobulinemia.
|
30305637 |
2018 |
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 |
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 |
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 |
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 |
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 |
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 |
rs387907272
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Nine of these samples tested positive for MYD88 p.(L265P) (8 LPL and 1 PCNSL).
|
29210102 |
2018 |
rs387907272
|
|
|
0.100 |
GeneticVariation |
BEFREE |
The MYD88 L265P mutation is present in nearly 90% of patients with Waldenström macroglobulinemia.
|
30190015 |
2018 |
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 |
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 |
rs387907272
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Patients with the mutated MYD88 L265P genotype with WM and MZL were compared.
|
28280994 |
2017 |
rs387907272
|
|
|
0.100 |
GeneticVariation |
BEFREE |
MYD88 L265P mutation in cutaneous involvement by Waldenström macroglobulinemia.
|
28370087 |
2017 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |