Ontology type: schema:ScholarlyArticle Open Access: True
2010-08
AUTHORSJordi Barretina, Barry S Taylor, Shantanu Banerji, Alexis H Ramos, Mariana Lagos-Quintana, Penelope L DeCarolis, Kinjal Shah, Nicholas D Socci, Barbara A Weir, Alan Ho, Derek Y Chiang, Boris Reva, Craig H Mermel, Gad Getz, Yevgenyi Antipin, Rameen Beroukhim, John E Major, Charles Hatton, Richard Nicoletti, Megan Hanna, Ted Sharpe, Tim J Fennell, Kristian Cibulskis, Robert C Onofrio, Tsuyoshi Saito, Neerav Shukla, Christopher Lau, Sven Nelander, Serena J Silver, Carrie Sougnez, Agnes Viale, Wendy Winckler, Robert G Maki, Levi A Garraway, Alex Lash, Heidi Greulich, David E Root, William R Sellers, Gary K Schwartz, Cristina R Antonescu, Eric S Lander, Harold E Varmus, Marc Ladanyi, Chris Sander, Matthew Meyerson, Samuel Singer
ABSTRACTSoft-tissue sarcomas, which result in approximately 10,700 diagnoses and 3,800 deaths per year in the United States, show remarkable histologic diversity, with more than 50 recognized subtypes. However, knowledge of their genomic alterations is limited. We describe an integrative analysis of DNA sequence, copy number and mRNA expression in 207 samples encompassing seven major subtypes. Frequently mutated genes included TP53 (17% of pleomorphic liposarcomas), NF1 (10.5% of myxofibrosarcomas and 8% of pleomorphic liposarcomas) and PIK3CA (18% of myxoid/round-cell liposarcomas, or MRCs). PIK3CA mutations in MRCs were associated with Akt activation and poor clinical outcomes. In myxofibrosarcomas and pleomorphic liposarcomas, we found both point mutations and genomic deletions affecting the tumor suppressor NF1. Finally, we found that short hairpin RNA (shRNA)-based knockdown of several genes amplified in dedifferentiated liposarcoma, including CDK4 and YEATS4, decreased cell proliferation. Our study yields a detailed map of molecular alterations across diverse sarcoma subtypes and suggests potential subtype-specific targets for therapy. More... »
PAGES715
http://scigraph.springernature.com/pub.10.1038/ng.619
DOIhttp://dx.doi.org/10.1038/ng.619
DIMENSIONShttps://app.dimensions.ai/details/publication/pub.1006757412
PUBMEDhttps://www.ncbi.nlm.nih.gov/pubmed/20601955
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JSON-LD is a popular format for linked data which is fully compatible with JSON.
curl -H 'Accept: application/ld+json' 'https://scigraph.springernature.com/pub.10.1038/ng.619'
N-Triples is a line-based linked data format ideal for batch operations.
curl -H 'Accept: application/n-triples' 'https://scigraph.springernature.com/pub.10.1038/ng.619'
Turtle is a human-readable linked data format.
curl -H 'Accept: text/turtle' 'https://scigraph.springernature.com/pub.10.1038/ng.619'
RDF/XML is a standard XML format for linked data.
curl -H 'Accept: application/rdf+xml' 'https://scigraph.springernature.com/pub.10.1038/ng.619'
This table displays all metadata directly associated to this object as RDF triples.
636 TRIPLES
21 PREDICATES
93 URIs
33 LITERALS
21 BLANK NODES