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Series GSE53021 Query DataSets for GSE53021
Status Public on May 02, 2014
Title 250K SNP array data for 40 high-grade myogenic cancers
Organism Homo sapiens
Experiment type Genome variation profiling by SNP array
SNP genotyping by SNP array
Summary Many common human mesenchymal tumors, including gastrointestinal stromal tumor (GIST), rhabdomyosarcoma (RMS), and leiomyosarcoma (LMS), feature myogenic differentiation. Here we report that intragenic deletion of the dystrophin-encoding and muscular dystrophy-associated DMD gene is a frequent mechanism by which myogenic tumors progress to high-grade, lethal sarcomas. Dystrophin is expressed in nonneoplastic and benign counterparts for GIST, RMS and LMS, and the DMD deletions inactivate larger dystrophin isoforms, including 427kDa dystrophin, while preserving expression of an essential 71kDa isoform. Dystrophin inhibits myogenic sarcoma cell migration, invasion, anchorage independence, and invadopodia formation, and dystrophin inactivation was found in 96%, 100%, and 62% of metastatic GIST, embryonal RMS, and LMS, respectively. These findings validate dystrophin as a tumor suppressor and likely anti-metastatic factor, suggesting that therapies in development for muscular dystrophies may also have relevance in treatment of cancer.
Overall design High molecular weight genomic DNA was isolated from 40 high-grade myogenic cancers (including 7 normal tissue/tumor pairs and 33 additional tumors) using QIAamp DNA Mini Kit (QIAGEN) and analyzed by Affymetrix 250K SNP array.
Contributor(s) Wang Y, Marino-Enriquez A, Fletcher JA
Citation(s) 24793134
Submission date Dec 05, 2013
Last update date May 17, 2017
Contact name Jonathan A Fletcher
Organization name Brigham and Women's Hospital and Harvard Medical School
Department Pathology
Street address 75 Francis Street
City Boston
State/province MA
ZIP/Postal code 02115
Country USA
Platforms (1)
GPL3718 [Mapping250K_Nsp] Affymetrix Mapping 250K Nsp SNP Array
Samples (47)
GSM1280468 Primary GIST-15
GSM1280469 Primary GIST-16
GSM1280470 Primary GIST-28
BioProject PRJNA230703

Download family Format
SOFT formatted family file(s) SOFTHelp
MINiML formatted family file(s) MINiMLHelp
Series Matrix File(s) TXTHelp

Supplementary file Size Download File type/resource
GSE53021_RAW.tar 1.3 Gb (http)(custom) TAR (of CEL)
Processed data included within Sample table

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