Somatic SF3B1 Mutation in Myelodysplasia with Ring Sideroblasts von Papaemmanuil, E, Cazzola, M, Boultwood, J, Malcovati, L, Vyas, P, Bowen, D, Pellagatti, A, Wainscoat, J.S, Hellstrom-Lindberg, E, Gambacorti-Passerini, C, Godfrey, A.L, Rapado, I, Cvejic, A, Rance, R, McGee, C, Ellis, P, Mudie, L.J, Stephens, P.J, McLaren, S, Massie, C.E, Tarpey, P.S, Varela, I, Nik-Zainal, S, Davies, H.R, Shlien, A, Jones, D, Raine, K, Hinton, J, Butler, A.P, Teague, J.W, Baxter, E.J, Score, J, Galli, A, Della Porta, M.G, Travaglino, E, Groves, M, Tauro, S, Munshi, N.C, Anderson, K.C, El-Naggar, A, Fischer, A, Mustonen, V, Warren, A.J, Cross, N.C.P, Green, A.R, Futreal, P.A, Stratton, M.R, Campbell, P.J

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Genomic and clinical characterization of a familial GIST kindred intolerant to imatinib von Ingley, K. M., Zatzman, M., Fontebasso, A. M., Lo, W., Subasri, V., Goldenberg, A., Li, Y., Davidson, S., Kanwar, N., Waldman, L., Brunga, L., Babichev, Y., Demicco, E. G., Gupta, A., Szybowska, M., Thipphavong, S., Malkin, D., Villani, A., Shlien, A., Gladdy, R. A., Kim, R. H.

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Combined hereditary and somatic mutations of replication error repair genes result in rapid onset of ultra-hypermutated cancers von Shlien, Adam, Campbell, Brittany B, de Borja, Richard, Alexandrov, Ludmil B, Merico, Daniele, Wedge, David, Van Loo, Peter, Tarpey, Patrick S, Coupland, Paul, Behjati, Sam, Pollett, Aaron, Lipman, Tatiana, Heidari, Abolfazl, Deshmukh, Shriya, Avitzur, Na'ama, Meier, Bettina, Gerstung, Moritz, Hong, Ye, Merino, Diana M, Ramakrishna, Manasa, Remke, Marc, Arnold, Roland, Panigrahi, Gagan B, Thakkar, Neha P, Hodel, Karl P, Henninger, Erin E, Göksenin, A Yasemin, Bakry, Doua, Charames, George S, Druker, Harriet, Lerner-Ellis, Jordan, Mistry, Matthew, Dvir, Rina, Grant, Ronald, Elhasid, Ronit, Farah, Roula, Taylor, Glenn P, Nathan, Paul C, Alexander, Sarah, Ben-Shachar, Shay, Ling, Simon C, Gallinger, Steven, Constantini, Shlomi, Dirks, Peter, Huang, Annie, Scherer, Stephen W, Grundy, Richard G, Durno, Carol, Aronson, Melyssa, Gartner, Anton, Meyn, M Stephen, Taylor, Michael D, Pursell, Zachary F, Pearson, Christopher E, Malkin, David, Futreal, P Andrew, Stratton, Michael R, Bouffet, Eric, Hawkins, Cynthia, Campbell, Peter J, Tabori, Uri

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Clinical and biological implications of driver mutations in myelodysplastic syndromes von Papaemmanuil, Elli, Gerstung, Moritz, Malcovati, Luca, Tauro, Sudhir, Gundem, Gunes, Van Loo, Peter, Yoon, Chris J., Ellis, Peter, Wedge, David C., Pellagatti, Andrea, Shlien, Adam, Groves, Michael John, Forbes, Simon A., Raine, Keiran, Hinton, Jon, Mudie, Laura J., McLaren, Stuart, Hardy, Claire, Latimer, Calli, Della Porta, Matteo G., O'Meara, Sarah, Ambaglio, Ilaria, Galli, Anna, Butler, Adam P., Walldin, Gunilla, Teague, Jon W., Quek, Lynn, Sternberg, Alex, Gambacorti-Passerini, Carlo, Cross, Nicholas C.P., Green, Anthony R., Boultwood, Jacqueline, Vyas, Paresh, Hellstrom-Lindberg, Eva, Bowen, David, Cazzola, Mario, Stratton, Michael R., Campbell, Peter J.

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Genomic predictors of response to PD-1 inhibition in children with germline DNA replication repair deficiency von Das, Anirban, Sudhaman, Sumedha, Morgenstern, Daniel, Coblentz, Ailish, Chung, Jiil, Stone, Simone C., Alsafwani, Noor, Liu, Zhihui Amy, Karsaneh, Ola Abu Al, Soleimani, Shirin, Ladany, Hagay, Chen, David, Zatzman, Matthew, Cabric, Vanja, Nobre, Liana, Bianchi, Vanessa, Edwards, Melissa, Sambira Nahum, Lauren C, Ercan, Ayse B., Nabbi, Arash, Constantini, Shlomi, Dvir, Rina, Yalon-Oren, Michal, Campino, Gadi Abebe, Caspi, Shani, Larouche, Valerie, Reddy, Alyssa, Osborn, Michael, Mason, Gary, Lindhorst, Scott, Bronsema, Annika, Magimairajan, Vanan, Opocher, Enrico, De Mola, Rebecca Loret, Sabel, Magnus, Frojd, Charlotta, Sumerauer, David, Samuel, David, Cole, Kristina, Chiaravalli, Stefano, Massimino, Maura, Tomboc, Patrick, Ziegler, David S., George, Ben, Van Damme, An, Hijiya, Nobuko, Gass, David, McGee, Rose B., Mordechai, Oz, Bowers, Daniel C., Laetsch, Theodore W., Lossos, Alexander, Blumenthal, Deborah T., Sarosiek, Tomasz, Yen, Lee Yi, Knipstein, Jeffrey, Bendel, Anne, Hoffman, Lindsey M., Luna-Fineman, Sandra, Zimmermann, Stefanie, Scheers, Isabelle, Nichols, Kim E., Zapotocky, Michal, Hansford, Jordan R., Maris, John M., Dirks, Peter, Taylor, Michael D., Kulkarni, Abhaya V., Shroff, Manohar, Tsang, Derek S., Villani, Anita, Xu, Wei, Aronson, Melyssa, Durno, Carol, Shlien, Adam, Malkin, David, Getz, Gad, Maruvka, Yosef E., Ohashi, Pamela S., Hawkins, Cynthia, Pugh, Trevor J., Bouffet, Eric, Tabori, Uri

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A high-resolution recombination map of the human genome von Kong, Augustine, Stefansson, Kari, Gudbjartsson, Daniel F, Sainz, Jesus, Jonsdottir, Gudrun M, Gudjonsson, Sigurjon A, Richardsson, Bjorgvin, Sigurdardottir, Sigrun, Barnard, John, Hallbeck, Bjorn, Masson, Gisli, Shlien, Adam, Palsson, Stefan T, Frigge, Michael L, Thorgeirsson, Thorgeir E, Gulcher, Jeffrey R

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LG-01 BRAF MUTATION AND CDKN2A DELETION DEFINE A CLINICALLY DISTINCT SUBGROUP OF CHILDHOOD SECONDARY HIGH-GRADE GLIOMA von Mistry, M., Zhukova, N., Merico, D., Rakopoulos, P., Krishnatry, R., Shago, M., Stavropoulos, J., Pole, J., Ray, P., Remke, M., Buczkowicz, P., Ramaswamy, V., Shlien, A., Rutka, J., Dirks, P., Taylor, M., Malkin, D., Bouffet, E., Hawkins, C., Tabori, U.

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GE-09 COMBINED HEREDITARY AND SOMATIC MUTATIONS OF REPLICATION ERROR REPAIR GENES RESULT IN RAPID ONSET OF ULTRA-HYPERMUTATED MALIGNANT BRAIN TUMORS IN CHILDREN von Shlien, A., Campbell, B. B., de Borja, R., Alexandrov, L. B., Merino, D. M., Remke, M., Bakry, D., Dirks, P., Huang, A., Grundy, R. G., Durno, C., Aronson, M., Taylor, M. D., Pursell, Z. F., Pearson, C. E., Malkin, D., Bouffet, E., Hawkins, C., Campbell, P. J., Tabori, U.

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Impact of early detection strategies on cancer mortality in germline TP53 mutation carriers in Li-Fraumeni syndrome von Villani, A., Tabori, U., Schiffman, J. D., Shlien, A., Druker, H., Novokmet, A., Finlay, J. L., Malkin, D.

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CONTRIBUTION OF DNA COPY-NUMBER VARIATION (CNV) TO CANCER SUSCEPTIBILITY AND LARGE-SCALE GENOME ALTERATIONS IN OSTEOSARCOMA (OS) von Pasic, I, Shlien, A, Novokmet, A, Zhang, C, Tabori, U, Pinto, D, Scherer, S W, Malkin, D

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The genetic heterogeneity and mutational burden of engineered melanomas in zebrafish models von Yen, J, White, R.M, Wedge, D.C, Van Loo, Peter, de Ridder, J, Capper, A, Richardson, J, Jones, D, Raine, K, Watson, I.R, Wu, C.J, Cheng, J, Martincorena, I, Nik-Zainal, S, Mudie, L, Moreau, Yves, Marshall, J, Ramakrishna, M, Tarpey, P, Shlien, A, Whitmore, I, Gamble, S, Latimer, C, Langon, E, Kaufman, C, Dovey, M, Taylor, A, Menzies, A, McLaren, S, O Meara, S, Butler, A, Teague, J, Lister, J, Chin, L, Campbell, P, Adams, D.J, Zon, L.I, Patton, E.E, Stemple, D.L, Futreal, P.A

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Diagnostic classification of childhood cancer using multiscale transcriptomics von Comitani, F, Nash, JO, Cohen-Gogo, S, Chang, AI, Wen, TT, Maheshwari, A, Goyal, B, Tio, ES, Tabatabaei, K, Mayoh, C, Zhao, R, Ho, B, Brunga, L, Lawrence, JEG, Balogh, P, Flanagan, AM, Teichmann, S, Huang, A, Ramaswamy, V, Hitzler, J, Wasserman, JD, Gladdy, RA, Dickson, BC, Tabori, U, Cowley, MJ, Behjati, S, Malkin, D, Villani, A, Irwin, MS, Shlien, A

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Clonal hematopoiesis and therapy-related myeloid neoplasms following neuroblastoma treatment von Coorens, TH, Collord, G, Lu, W, Mitchell, E, Ijaz, J, Roberts, T, Oliver, TR, Burke, A, Gattens, M, Dickens, E, Nangalia, J, Tischkowitz, M, Anderson, J, Shlien, A, Godfrey, AL, Murray, MJ, Behjati, S

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Single cell derived mRNA signals across human kidney tumors von Young, MD, Mitchell, TJ, Custers, L, Margaritis, T, Morales-Rodriguez, F, Kwakwa, K, Khabirova, E, Kildisiute, G, Oliver, TRW, de Krijger, RR, van den Heuvel-Eibrink, MM, Comitani, F, Piapi, A, Bugallo-Blanco, E, Thevanesan, C, Burke, C, Prigmore, E, Ambridge, K, Roberts, K, Braga, FAV, Coorens, THH, Del Valle, I, Wilbrey-Clark, A, Mamanova, L, Stewart, GD, Gnanapragasam, VJ, Rampling, D, Sebire, N, Coleman, N, Hook, L, Warren, A, Haniffa, M, Kool, M, Pfister, SM, Achermann, JC, He, X, Barker, RA, Shlien, A, Bayraktar, OA, Teichmann, SA, Holstege, FC, Meyer, KB, Drost, J, Straathof, K, Behjati, S

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Rearrangement bursts generate canonical gene fusions in bone and soft tissue tumors von Anderson, ND, de Borja, R, Young, MD, Fuligni, F, Rosic, A, Roberts, ND, Hajjar, S, Layeghifard, M, Novokmet, A, Kowalski, PE, Anaka, M, Davidson, S, Zarrei, M, Said, BI, Schreiner, LC, Marchand, R, Sitter, J, Gokgoz, N, Brunga, L, Graham, GT, Fullam, A, Pillay, N, Toretsky, JA, Yoshida, A, Shibata, T, Metzler, M, Somers, GR, Scherer, SW, Flanagan, AM, Campbell, PJ, Schiffman, JD, Shago, M, Alexandrov, LB, Wunder, JS, Andrulis, IL, Malkin, D, Behjati, S, Shlien, A

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The driver landscape of sporadic chordoma von Tarpey, PS, Behjati, S, Young, MD, Martincorena, I, Alexandrov, LB, Farndon, SJ, Guzzo, C, Hardy, C, Latimer, C, Butler, AP, Teague, JW, Shlien, A, Futreal, PA, Shah, S, Bashashati, A, Jamshidi, F, Nielsen, TO, Huntsman, D, Baumhoer, D, Brandner, S, Wunder, J, Dickson, B, Cogswell, P, Sommer, J, Phillips, JJ, Amary, MF, Tirabosco, R, Pillay, N, Yip, S, Stratton, MR, Flanagan, AM, Campbell, PJ

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Recurrent mutation of IGF signalling genes and distinct patterns of genomic rearrangement in osteosarcoma von Behjati, S, Tarpey, PS, Haase, K, Ye, H, Young, MD, Alexandrov, LB, Farndon, SJ, Collord, G, Wedge, DC, Martincorena, I, Cooke, SL, Davies, H, Mifsud, W, Lidgren, M, Martin, S, Latimer, C, Maddison, M, Butler, AP, Teague, JW, Pillay, N, Shlien, A, McDermott, U, Futreal, PA, Baumhoer, D, Zaikova, O, Bjerkehagen, B, Myklebost, O, Amary, MF, Tirabosco, R, Van Loo, P, Stratton, MR, Flanagan, AM, Campbell, PJ

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Alterations in serum immunoglobulin G subclasses in patients with ulcerative colitis and Crohn's disease von MacDermott, R.P., Nash, G.S., Auer, I.O., Shlien, R., Lewis, B.S., Madassery, J., Nahm, M.H.

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Mutational signatures of ionizing radiation in second malignancies von Behjati, S, Gundem, G, Wedge, DC, Roberts, ND, Tarpey, PS, Cooke, SL, Van Loo, P, Alexandrov, LB, Ramakrishna, M, Davies, H, Nik-Zainal, S, Hardy, C, Latimer, C, Raine, KM, Stebbings, L, Menzies, A, Jones, D, Shepherd, R, Butler, AP, Teague, JW, Jorgensen, M, Khatri, B, Pillay, N, Shlien, A, Futreal, PA, Badie, C, ICGC Prostate Group, McDermott, U, Bova, GS, Richardson, AL, Flanagan, AM, Stratton, MR, Campbell, PJ

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Mutational signatures of ionizing radiation in second malignancies von Behjati, S, Gundem, G, Wedge, DC, Roberts, ND, Tarpey, PS, Cooke, SL, Van Loo, P, Alexandrov, LB, Ramakrishna, M, Davies, H, Nik-Zainal, S, Hardy, C, Latimer, C, Raine, KM, Stebbings, L, Menzies, A, Jones, D, Shepherd, R, Butler, AP, Teague, JW, Jorgensen, M, Khatri, B, Pillay, N, Shlien, A, Futreal, PA, Badie, C, ICGC Prostate Group, McDermott, U, Bova, GS, Richardson, AL, Flanagan, AM, Stratton, MR, Campbell, PJ

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