Homo sapiens
Ontology highlight
ABSTRACT:
PROVIDER: PRJNA154859 | ENA |
REPOSITORIES: ENA
Similar Datasets
Project description:SNP profiles from 30 pheochromocytomas and paragangliomas were analyzed to detect identical-by-descent haplotypes, highlighting a founder mutation of SDHD in two samples.
2012-03-23 | GSE32204 | GEO
Project description:SNP data from 78 pheochromocytomas and paragangliomas
| PRJNA168105 | ENA
Project description:SNP profiles from 30 pheochromocytomas and paragangliomas were analyzed to detect identical-by-descent haplotypes, highlighting a founder mutation of SDHD in two samples. 30 pheochromocytomas and paragangliomas were analyzed with Illumina Human610-Quad v1.0 BeadChips.
2012-03-23 | E-GEOD-32204 | biostudies-arrayexpress
Project description:SNP profiles from 78 pheochromocytomas and paragangliomas were analyzed to detect copy number changes and LOH.
2012-09-11 | GSE38525 | GEO
Project description:SNP profiles from 78 pheochromocytomas and paragangliomas were analyzed to detect copy number changes and LOH. 78 pheochromocytomas and paragangliomas were analyzed with Illumina Human610-Quad v1.0 BeadChips.
2012-09-11 | E-GEOD-38525 | biostudies-arrayexpress
Project description:Expression data from benign and malignant pheochromocytomas and paragangliomas
| PRJNA278840 | ENA
Project description:Exome sequencing of pheochromocytomas and paragangliomas
| PRJNA268678 | ENA
Project description:Expression data from primary and hereditary pheochromocytomas (PHEOs) and paragangliomas (PGLs)
| PRJNA217505 | ENA
Project description:A Cartes d'Identité des Tumeurs (CIT) project from the french Ligue Nationale Contre le Cancer (http://cit.ligue-cancer.net) | Affymetrix HG-U133 Plus 2.0 : 188 tumor samples |Pheochromocytomas and paragangliomas are neuroendocrine tumors occuring in the context of inherited cancer syndromes in approximately 30% of cases, linked to germline mutations in VHL, RET, NF1, SDHA, SDHB, SDHC, SDHD, SDHAF2 or TMEM127 genes. Although progress has been made with regard to tumorigenesis mechanisms in pheochromocytoma/paraganglioma thanks to genome-wide expression studies, the question of a putative molecular distinction between VHL- and SDHx- on one hand, and RET- and NF1-related tumors on the other hand, remained to be addressed as well as the characterization of genetic events in sporadic tumors. With this purpose, 202 pheochromocytomas/paragangliomas, including 75 hereditary tumors, were investigated by expression profiling, array CGH and somatic mutation screening. The systematic characterization of somatic genetic events associated with tumor suppressor gene germline mutations in tumor tissues reveals a majority of loss of heterozygosity (LOH) but also point mutations and copy neutral LOH. Gene-expression signature defined the hereditary tumors according to their genotype. Especially, a complete sub-separation between SDHx- and VHL-related tumors was observed. Moreover, guided by the transcriptome classification and the LOH profile, somatic mutations in VHL or RET genes were identified in 14% of sporadic pheochromocytomas/paragangliomas. A genetic cause was found in 45.5% (92/202) of the large series of pheochromocytomas/paragangliomas analyzed. Regarding mutated genes, specific molecular pathways involved in tumorigenesis mechanisms are showed. Altogether, these new findings suggest that somatic mutation analysis would give important clues for personalized molecular target therapies.
2011-07-07 | E-MTAB-733 | biostudies-arrayexpress
Project description:We performed gene expression profiling analysis using data obtained from RNA-seq of a paraganglioma sample carrying the DLST-p.Y422C mutation. The main goal of this project was to find specific gene expression profiles associated to the presence of mutations in the DLST gene of pheochromocytomas/paragangliomas.
2023-05-05 | GSE210808 | GEO