Article
Frequent mutation of the major cartilage collagen gene COL2A1 in chondrosarcoma.
Nature genetics - 1 Aug 2013
Tarpey Patrick S, Behjati Sam, Cooke Susanna L, Van Loo Peter, Wedge David C, Pillay Nischalan, Marshall John, O'Meara Sarah, Davies Helen, Nik-Zainal Serena, Beare David, Butler Adam, Gamble John, Hardy Claire, Hinton Jonathon, Jia Ming Ming, Jayakumar Alagu, Jones David, Latimer Calli, Maddison Mark, Martin Sancha, McLaren Stuart, Menzies Andrew, Mudie Laura, Raine Keiran, Teague Jon W, Tubio Jose M C, Halai Dina, Tirabosco Roberto, Amary Fernanda, Campbell Peter J, Stratton Michael R, Flanagan Adrienne M, Futreal P Andrew
Abstract excerpt
Chondrosarcoma is a heterogeneous collection of malignant bone tumors and is the second most common primary malignancy of bone after osteosarcoma. Recent work has identified frequent, recurrent mutations in IDH1 or IDH2 in nearly half of central chondrosarcomas. However, there has been little systematic genomic analysis of this tumor type, and, thus, the contribution of other genes is unclear. Here we report...
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