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Type: Journal article
Title: A Children's Oncology Group and TARGET initiative exploring the genetic landscape of Wilms tumor
Author: Gadd, S.
Huff, V.
Walz, A.
Ooms, A.
Armstrong, A.
Gerhard, D.
Smith, M.
Auvil, J.
Meerzaman, D.
Chen, Q.-.R.
Hsu, C.
Yan, C.
Nguyen, C.
Hu, Y.
Hermida, L.
Davidsen, T.
Gesuwan, P.
Ma, Y.
Zong, Z.
Mungall, A.
et al.
Citation: NATURE GENETICS, 2017; 49(10):1487-+
Publisher: Nature Publishing Group
Issue Date: 2017
ISSN: 1061-4036
Statement of
Samantha Gadd, Vicki Huff, Amy L Walz, Ariadne H A G Ooms, Amy E Armstrong ... Charles G Mullighan ... et al.
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.
Keywords: Embryonal neoplasms; Wilms tumour
Rights: © 2017, Springer Nature
RMID: 0030082786
DOI: 10.1038/ng.3940
Appears in Collections:Medicine publications

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