|
Fibromyxosarcoma
|
0.300 |
FusionGene
|
disease |
ORPHANET |
|
|
|
|
Alcohol consumption
|
0.100 |
GeneticVariation
|
phenotype |
GWASCAT |
Multiancestry Genome-Wide Association Study of Lipid Levels Incorporating Gene-Alcohol Interactions.
|
30698716 |
2019 |
|
Body Height
|
0.100 |
GeneticVariation
|
phenotype |
GWASCAT |
Characterizing rare and low-frequency height-associated variants in the Japanese population.
|
31562340 |
2019 |
|
Body Height
|
0.100 |
GeneticVariation
|
phenotype |
GWASCAT |
Leveraging Polygenic Functional Enrichment to Improve GWAS Power.
|
30595370 |
2019 |
|
Low density lipoprotein cholesterol measurement
|
0.100 |
GeneticVariation
|
phenotype |
GWASCAT |
Multiancestry Genome-Wide Association Study of Lipid Levels Incorporating Gene-Alcohol Interactions.
|
30698716 |
2019 |
|
Low density lipoprotein cholesterol measurement
|
0.100 |
GeneticVariation
|
phenotype |
GWASCAT |
Multi-ancestry genome-wide gene-smoking interaction study of 387,272 individuals identifies new loci associated with serum lipids.
|
30926973 |
2019 |
|
Body Fat Distribution
|
0.100 |
GeneticVariation
|
phenotype |
GWASCAT |
Genome-wide association study of body fat distribution identifies adiposity loci and sex-specific genetic effects.
|
30664634 |
2019 |
|
Serum total cholesterol measurement
|
0.100 |
GeneticVariation
|
phenotype |
GWASCAT |
Genetic analyses of diverse populations improves discovery for complex traits.
|
31217584 |
2019 |
|
Low-grade fibromyxoid sarcoma
|
0.100 |
Biomarker
|
disease |
BEFREE |
In some cases, areas indistinguishable from LGFMS are present, and these have been shown to contain FUS-CREB3L2 fusion transcripts.
|
28648941 |
2017 |
|
Low-grade fibromyxoid sarcoma
|
0.100 |
Biomarker
|
disease |
BEFREE |
While the majority of LGFMS cases are characterized by a FUS-CREB3L1 fusion, both FUS-CREB3L2 and EWSR1-CREB3L1 fusions were recently demonstrated in a small number of LGFMS and SEF/LGFMS hybrid tumors.
|
25231134 |
2015 |
|
Low-grade fibromyxoid sarcoma
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
This fusion has recently been described as a variant translocation in low-grade fibromyxoid sarcoma (LGFMS), a tumor more typically characterized by a recurrent t(7;16) chromosomal translocation, resulting in the fusion of FUS and CREB3L2 genes.
|
24896634 |
2014 |
|
Low-grade fibromyxoid sarcoma
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
All 5 cases of LGFMS with progression to SEF morphology or hybrid features had FUS-CREB3L2 fusion transcripts.
|
24441665 |
2014 |
|
Low-grade fibromyxoid sarcoma
|
0.100 |
Biomarker
|
disease |
BEFREE |
Genomic polymerase chain reaction of genomic DNA revealed the typical FUS/Creb3L2 fusion gene products typical of low-grade fibromyxoid sarcoma.
|
23290535 |
2013 |
|
Low-grade fibromyxoid sarcoma
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
A t(7;16)(q34;p11) translocation, yielding a FUS/CREB3L2 fusion gene, has been identified in approximately 80%-90% of deep soft tissue LGFMS.
|
21399449 |
2011 |
|
Low-grade fibromyxoid sarcoma
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
FUS-CREB3L2 was capable of activating transcription from CD24 regulatory sequences in luciferase assays, suggesting an important role for the upregulation of this gene in LGFMS.
|
21536545 |
2011 |
|
Low-grade fibromyxoid sarcoma
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Low-grade fibromyxoid sarcoma (LGFMS) is a distinctive fibroblastic neoplasm that is characterized by alternating collagenous and myxoid areas, deceptively bland spindle cell morphology, a whorling architecture, and a t(7;16) translocation involving FUS and CREB3L2.
|
21415703 |
2011 |
|
Low-grade fibromyxoid sarcoma
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Recently, a link has been suggested between SEF and low-grade fibromyxoid sarcoma (LGFMS) on the basis of the finding of the characteristic translocation t(7;16) (FUS-CREB3L2) of LGFMS in a small number of studied cases of SEF.
|
20499220 |
2011 |
|
Low-grade fibromyxoid sarcoma
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
We present a case of an ossifying tumor of the perineum that required an open biopsy and fluorescent in situ hybridization testing for FUS and CREB3L2 for diagnosis as a variant of low-grade fibromyxoid sarcoma.
|
21658743 |
2011 |
|
Low-grade fibromyxoid sarcoma
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Results showed 50% of cases tested positive for the FUS-CREB3L2 translocation by RT-PCR and 81.8% by FISH, suggesting FISH is more sensitive than RT-PCR for confirming LGFMS diagnosis.
|
21406083 |
2011 |
|
Low-grade fibromyxoid sarcoma
|
0.100 |
Biomarker
|
disease |
BEFREE |
However, supernumerary ring chromosomes have been identified in a subset of FUS/CREB3L2-positive LGFMS, but it has not yet been formally demonstrated that such ring chromosomes harbor the FUS/CREB3L2 fusion gene.
|
20471519 |
2010 |
|
Low-grade fibromyxoid sarcoma
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Distinct chromosomal translocations have been identified in several myxoid sarcomas, including t(12;16)(q13;p11) FUS-DDIT3 in myxoid liposarcoma, t(7;16)(q34;p11) FUS-CREB3L2 in low-grade fibromyxoid sarcoma, and t(9;22)(q31;q12) EWSR1-NR4A3 in extraskeletal myxoid chondrosarcoma.
|
18162764 |
2008 |
|
Low-grade fibromyxoid sarcoma
|
0.100 |
Biomarker
|
disease |
BEFREE |
RT-PCR analysis revealed FUS-CREB3L2 fusion transcripts in 16 of the 19 (84%) LGFMSs.
|
18382348 |
2008 |
|
Low-grade fibromyxoid sarcoma
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Reported herein is a case of primary pulmonary HSCT that had FUS-CREB3L2 fusion transcripts, a product of characteristic chromosomal abnormality t(7;16)(q33;p11) of HSCT and LGFMS.
|
17295648 |
2007 |
|
Low-grade fibromyxoid sarcoma
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The FUS-CREB3L2 fusion gene transcripts were detected in 14/16 (88%) cases of LGFMS.
|
16931951 |
2006 |
|
Low-grade fibromyxoid sarcoma
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
Reverse transcriptase-polymerase chain reaction analysis disclosed a FUS/CREB3L2 fusion transcript in 22 of the 23 (96%) cases that remained classified as LGFMS after the histologic re-evaluation and from which RNA of sufficient quality could be extracted, whereas none of the cases that were classified as other tumor types was fusion-positive.
|
15640831 |
2005 |