 |
 |
GEO help: Mouse over screen elements for information. |
|
| Status |
Public on Feb 03, 2017 |
| Title |
Affymetrix Cytoscan HD 2,600K SNP array data for 9 GISTs |
| Organism |
Homo sapiens |
| Experiment type |
SNP genotyping by SNP array
|
| Summary |
KIT, PDGFRA, NF1, and SDH mutations are alternate initiating events, fostering hyperplasia in gastrointestinal stromal tumors (GISTs), and additional genetic alterations are required for progression to malignancy. The most frequent secondary alteration, demonstrated in ~70% of GISTs, is chromosome 14q deletion. Here we report hemizygous or homozygous inactivating mutations of the chromosome 14q MAX gene in 16 of 76 GISTs (21%). We find MAX mutations in 17% and 50% of sporadic and NF1-syndromic GISTs, respectively, and we find loss of MAX protein expression in 48% and 90% of sporadic and NF1-syndromic GISTs, and in 3 of 8 micro GISTs, which are early GISTs. MAX genomic inactivation is associated with p16 silencing in the absence of p16 coding sequence deletion, and MAX induction restores p16 expression and inhibits GIST proliferation. Hence, MAX inactivation is a common event in GIST progression, fostering cell cycle activity in early GISTs.
|
| |
|
| Overall design |
High molecular weight genomic DNA was isolated from 9 GISTs using QIAamp DNA Mini Kit (Qiagen, Valencia, CA, USA) and analyzed by Affymetrix Cytoscan HD 2,600K-SNP array (Affymetrix, Santa Clara, CA, USA) with Affymetrix Chromosome Analysis Suite 2.0.
|
| |
|
| Contributor(s) |
Schaefer I, Marino-Enriquez A, Fletcher JA |
| Citation(s) |
28270683 |
| NIH grant(s) |
| Grant ID |
Grant title |
Affiliation |
Name |
| P50 CA127003 |
DF/HCC SPORE in Gastrointestinal Cancer: SPORE: DF/HCC SPORE in GASTROINTESTINAL CANCER: SPORE: DF/HCC SPORE in GASTROINTESTINAL CANCER: SPORE: DF/HCC SPORE in GASTROINTESTINAL CANCER: SPORE: DF/HCC SPORE in GASTROINTESTINAL CANCER |
DANA-FARBER CANCER INSTITUTE |
CHARLES S FUCHS |
| U54 CA168512 |
SARC Sarcoma SPORE |
SARC |
RAPHAEL E. POLLOCK |
| I01 BX000338 |
Mechanisms of Tyrosine Kinase Inhibitor Resistance in GI Stromal Tumors: Regulation of oncogenic KIT by LMTK3 |
PORTLAND VA MEDICAL CENTER |
Heinrich |
|
| Submission date |
Jan 03, 2017 |
| Last update date |
Jul 13, 2018 |
| Contact name |
Jonathan A Fletcher |
| E-mail(s) |
jfletcher@partners.org
|
| 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) |
| GPL16131 |
[CytoScanHD_Array] Affymetrix CytoScan HD Array |
|
| Samples (9)
|
|
| Relations |
| BioProject |
PRJNA359797 |
| Supplementary file |
Size |
Download |
File type/resource |
| GSE93077_RAW.tar |
993.3 Mb |
(http)(custom) |
TAR (of CEL, CYCHP) |
| Processed data included within Sample table |
| Processed data provided as supplementary file |
|
|
|
|
 |
Less...
More...