Article
Recurrent mutation of IGF signalling genes and distinct patterns of genomic rearrangement in osteosarcoma.
Nature communications - 23 Jun 2017
Behjati Sam, Tarpey Patrick S, Haase Kerstin, Ye Hongtao, Young Matthew D, Alexandrov Ludmil B, Farndon Sarah J, Collord Grace, Wedge David C, Martincorena Inigo, Cooke Susanna L, Davies Helen, Mifsud William, Lidgren Mathias, Martin Sancha, Latimer Calli, Maddison Mark, Butler Adam P, Teague Jon W, Pillay Nischalan, Shlien Adam, McDermott Ultan, Futreal P Andrew, Baumhoer Daniel, Zaikova Olga, Bjerkehagen Bodil, Myklebost Ola, Amary M Fernanda, Tirabosco Roberto, Van Loo Peter, Stratton Michael R, Flanagan Adrienne M, Campbell Peter J
Abstract excerpt
Osteosarcoma is a primary malignancy of bone that affects children and adults. Here, we present the largest sequencing study of osteosarcoma to date, comprising 112 childhood and adult tumours encompassing all major histological subtypes. A key finding of our study is the identification of mutations in insulin-like growth factor (IGF) signalling genes in 8/112 (7%) of cases. We validate this observation using...
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