S. Gadd, V. Huff, A.L. Walz, A.H.A.G. Ooms, A.E. Armstrong, D.S. Gerhard, M.A. Smith, J.M. Guidry Auvil, D. Meerzaman, Q. Chen, C. Hao Hsu, C. Yan, C. Nguyen, Y. Hu, L.C. Hermida, T. Davidsen, P. Gesuwan, Y. Ma, Z. Zong, A.J. Mungall, R.A. Moore etc.
Nature Genetics, (2017)
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.