|
Chronic Lymphocytic Leukemia
|
0.440 |
GeneticVariation
|
disease |
BEFREE |
Two recent studies reported whole-genome sequencing of chronic lymphocytic leukemia (CLL) samples and found repeated mutations in the XPO1 and NOTCH1 genes.
|
22086416 |
2012 |
|
Chronic Lymphocytic Leukemia
|
0.440 |
GeneticVariation
|
disease |
BEFREE |
Excepting NOTCH1, TP53 and XPO1, which showed a lower incidence in MBL, genes were mutated with a similar prevalence to CLL, indicating the early origin of most driver mutations in the MBL/CLL continuum.
|
27469216 |
2017 |
|
Chronic Lymphocytic Leukemia
|
0.440 |
GeneticVariation
|
disease |
CLINVAR |
Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.
|
26619011 |
2016 |
|
Mediastinal (Thymic) Large B-Cell Lymphoma
|
0.320 |
GeneticVariation
|
disease |
BEFREE |
Although the immunophenotype and XPO1 mutation are characteristic of PMBL, EBV expression is uncommon.
|
31789821 |
2019 |
|
Mediastinal (Thymic) Large B-Cell Lymphoma
|
0.320 |
GeneticVariation
|
disease |
ORPHANET |
Recurrent mutations of the exportin 1 gene (XPO1) and their impact on selective inhibitor of nuclear export compounds sensitivity in primary mediastinal B-cell lymphoma.
|
27312795 |
2016 |
|
Mediastinal (Thymic) Large B-Cell Lymphoma
|
0.320 |
GeneticVariation
|
disease |
BEFREE |
Targeted next-generation sequencing analysis showed SOCS1 mutations in the 3 cases, and TNFAIP3 and XPO1 mutations in one, further supporting the diagnosis of PMBL.
|
30211726 |
2019 |
|
Mammary Neoplasms
|
0.120 |
GeneticVariation
|
group |
CLINVAR |
Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.
|
26619011 |
2016 |
|
Mammary Neoplasms
|
0.120 |
GeneticVariation
|
group |
BEFREE |
Using advanced statistical methods, we found that expression levels of several of nuclear transport genes including XPO1 were associated with poor survival and predicted recurrence of tamoxifen-treated breast tumors in human breast cancer gene expression data sets.
|
27533791 |
2016 |
|
Malignant Neoplasms
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Phase 2 study of the Exportin 1 inhibitor selinexor in patients with recurrent gynecological malignancies.
|
31822399 |
2020 |
|
Adenocarcinoma of prostate
|
0.100 |
GeneticVariation
|
disease |
CLINVAR |
Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.
|
26619011 |
2016 |
|
Colorectal Neoplasms
|
0.100 |
GeneticVariation
|
group |
CLINVAR |
Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.
|
26619011 |
2016 |
|
Neoplasms
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Detection and prognostic value of recurrent exportin 1 mutations in tumor and cell-free circulating DNA of patients with classical Hodgkin lymphoma.
|
27479820 |
2016 |
|
Neoplasms
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Emerging evidence suggests that the mutant XPO1 E571K plays a role in carcinogenesis, and this variant is quantifiable in tumor and plasma cell-free DNA of patients using highly sensitive molecular biology techniques, such as digital PCR and next-generation sequencing.
|
28196522 |
2017 |
|
Neoplasms
|
0.100 |
GeneticVariation
|
group |
BEFREE |
In melanoma xenograft models, CRM1 inhibition reduces tumor growth independent of BRAF or NRAS status and induces complete regression of BRAF V600E tumors when combined with BRAF inhibition.
|
23615632 |
2013 |
|
Malignant Uterine Corpus Neoplasm
|
0.100 |
GeneticVariation
|
disease |
CLINVAR |
Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.
|
26619011 |
2016 |
|
Systolic Pressure
|
0.100 |
GeneticVariation
|
phenotype |
GWASCAT |
Leveraging Polygenic Functional Enrichment to Improve GWAS Power.
|
30595370 |
2019 |
|
Leukemia, Myelocytic, Acute
|
0.090 |
GeneticVariation
|
disease |
BEFREE |
Here, we show that two other leukemogenic proteins, nucleoporin-fusion SET-Nup214 and the NPM1 mutant, NPM1c, which contains a nuclear export signal (NES) at its C-terminus and is one of the most frequent mutations in acute myeloid leukemia, are recruited to the <i>HOX</i> cluster region via chromatin-bound CRM1, leading to <i>HOX</i> gene activation in human leukemia cells.
|
31755865 |
2019 |
|
Leukemia, Myelocytic, Acute
|
0.090 |
GeneticVariation
|
disease |
BEFREE |
On the other hand, we have found that AML-associated NPM mutants efficiently form complexes with CRM1HA (a mutant CRM1 with higher affinity for NESs), and we have quantitatively analyzed CRM1HA interaction with the NES motifs of these mutants, using fluorescence anisotropy and isothermal titration calorimetry.
|
26091065 |
2015 |
|
Leukemia, Myelocytic, Acute
|
0.090 |
GeneticVariation
|
disease |
BEFREE |
Potential approaches for therapeutic targeting of NPM1-mutated AML include: (i) reverting the aberrant nuclear export of NPM1 mutant using exportin-1 inhibitors; (ii) disruption of the nucleolus with drugs blocking the oligomerization of wild-type nucleophosmin or inducing nucleolar stress; and (iii) immunotherapeutic targeting of highly expressed CD33 and IL3RA (CD123) antigens.
|
25891481 |
2015 |
|
B-Cell Lymphomas
|
0.050 |
GeneticVariation
|
group |
BEFREE |
In this retrospective study, we analyzed the recurrent hotspot mutation of the exportin 1 (XPO1, p.E571K) gene, previously identified in primary mediastinal B-cell lymphoma, in biopsies and plasma circulating cell-free DNA from patients with classical Hodgkin lymphoma using a highly sensitive digital PCR technique.
|
27479820 |
2016 |
|
Carcinogenesis
|
0.050 |
GeneticVariation
|
phenotype |
BEFREE |
Emerging evidence suggests that the mutant XPO1 E571K plays a role in carcinogenesis, and this variant is quantifiable in tumor and plasma cell-free DNA of patients using highly sensitive molecular biology techniques, such as digital PCR and next-generation sequencing.
|
28196522 |
2017 |
|
Carcinogenesis
|
0.050 |
GeneticVariation
|
phenotype |
BEFREE |
Proteomic characterization identified that mutant XPO1 altered the nucleocytoplasmic distribution of hundreds of proteins in a sequence-specific manner that promoted oncogenesis.
|
31285298 |
2019 |
|
Diffuse Large B-Cell Lymphoma
|
0.020 |
GeneticVariation
|
disease |
BEFREE |
Recent reports have shown molecular alterations in the gene encoding XPO1 and showed a mutation hotspot (E571K) in the following two hematological malignancies with similar phenotypes and natural histories: primary mediastinal diffuse large B cell lymphoma and classical Hodgkin's lymphoma.
|
28196522 |
2017 |
|
Diffuse Large B-Cell Lymphoma
|
0.020 |
GeneticVariation
|
disease |
BEFREE |
XPO1 mutations were present in 28/117 (24%) PMBL cases and in 5/19 (26%) HL cases but absent/rare in MGZL (0/20) or DLBCL (3/197).
|
27312795 |
2016 |
|
Classical Hodgkin's Lymphoma
|
0.020 |
GeneticVariation
|
disease |
BEFREE |
Recent reports have shown molecular alterations in the gene encoding XPO1 and showed a mutation hotspot (E571K) in the following two hematological malignancies with similar phenotypes and natural histories: primary mediastinal diffuse large B cell lymphoma and classical Hodgkin's lymphoma.
|
28196522 |
2017 |