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Genome Information for Homo sapiens
Extraskeletal myxoid chondrosarcoma (EMC) is an ultra-rare cancer. Though it has a favorable prognosis and an indolent course, it has high rates of local recurrence and metastasis to the lungs. EMC is most often characterized by a translocation involving the NR4A3 gene most often fusing with EWSR1, leading to constitutive expression of NR4A3, the biological significance of which is unknown. Our study presents a case of EMC with case-matched lung and advanced pelvic metastases. We conducted Whole Genome Sequencing to examine differences in the mutational landscape at two different stages of metastasis. This is the first study to our knowledge to analyze mega-base scale structural variants (SVs) in EMC. Our data validates copy number variants (CNVs) found in previous studies. While the... (for more see dbGaP study page.)
| Accession | PRJNA974549; dbGaP: phs003305 |
| Type | Umbrella project (Subtype:Authorized Access) |
| Organism | Homo sapiens[Taxonomy ID: 9606] Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo; Homo sapiens |
| Submission | Registration date: 19-May-2023
NCI |
| Relevance | Medical |
Project Data:
| Resource Name | Number
of Links |
|---|
| Sequence data |
| SRA Experiments | 4 |
| Other datasets |
| BioSample | 4 |
| Genotype and Phenotype (dbGaP) | 1 |
Whole Genome Sequencing for Metastatic Mutational Burden in Extraskeletal Myxoid Chondrosarcoma encompasses the following sub-project:
| Project Type | Number of Projects |
| Phenotype or Genotype | 1 |
BioProject
accession | Organism | Title |
|---|
| PRJNA974550 | Homo sapiens | Whole Genome Sequencing for Metastatic Mutational Burden in Extraskeletal Myxoid Chondrosarcoma (UNIVERSITY OF PITTSBURGH...) |
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