A Children's Oncology Group and TARGET initiative exploring the genetic landscape of Wilms tumor View Full Text


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2017-10

AUTHORS

Samantha Gadd, Vicki Huff, Amy L Walz, Ariadne H A G Ooms, Amy E Armstrong, Daniela S Gerhard, Malcolm A Smith, Jaime M Guidry Auvil, Daoud Meerzaman, Qing-Rong Chen, Chih Hao Hsu, Chunhua Yan, Cu Nguyen, Ying Hu, Leandro C Hermida, Tanja Davidsen, Patee Gesuwan, Yussanne Ma, Zusheng Zong, Andrew J Mungall, Richard A Moore, Marco A Marra, Jeffrey S Dome, Charles G Mullighan, Jing Ma, David A Wheeler, Oliver A Hampton, Nicole Ross, Julie M Gastier-Foster, Stefan T Arold, Elizabeth J Perlman

ABSTRACT

We performed genome-wide sequencing and analyzed mRNA and miRNA expression, DNA copy number, and DNA methylation in 117 Wilms tumors, followed by targeted sequencing of 651 Wilms tumors. In addition to genes previously implicated in Wilms tumors (WT1, CTNNB1, AMER1, DROSHA, DGCR8, XPO5, DICER1, SIX1, SIX2, MLLT1, MYCN, and TP53), we identified mutations in genes not previously recognized as recurrently involved in Wilms tumors, the most frequent being BCOR, BCORL1, NONO, MAX, COL6A3, ASXL1, MAP3K4, and ARID1A. DNA copy number changes resulted in recurrent 1q gain, MYCN amplification, LIN28B gain, and MIRLET7A loss. Unexpected germline variants involved PALB2 and CHEK2. Integrated analyses support two major classes of genetic changes that preserve the progenitor state and/or interrupt normal development. More... »

PAGES

1487-1494

References to SciGraph publications

Identifiers

URI

http://scigraph.springernature.com/pub.10.1038/ng.3940

DOI

http://dx.doi.org/10.1038/ng.3940

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1091287852

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/28825729


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634 Division of Hematology-Oncology and Transplantation, Ann and Robert H. Lurie Children's Hospital of Chicago, Northwestern University Feinberg School of Medicine, Chicago, Illinois, USA.
635 rdf:type schema:Organization
636 https://www.grid.ac/institutes/grid.45672.32 schema:alternateName King Abdullah University of Science and Technology
637 schema:name Computational Bioscience Research Center, Division of Biological and Environmental Sciences and Engineering, King Abdullah University of Science and Technology, Thuwal, Saudi Arabia.
638 rdf:type schema:Organization
639 https://www.grid.ac/institutes/grid.48336.3a schema:alternateName National Cancer Institute
640 schema:name Cancer Therapy Evaluation Program, National Cancer Institute, Bethesda, Maryland, USA.
641 Center for Biomedical Informatics and Information Technology, National Cancer Institute, Bethesda, Maryland, USA.
642 Office of Cancer Genomics, National Cancer Institute, Bethesda, Maryland, USA.
643 rdf:type schema:Organization
 




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