Journal Article

DKFZ-2018-00369

http://join2-wiki.gsi.de/foswiki/pub/Main/Artwork/join2_logo100x88.png The landscape of genomic alterations across childhood cancers.

Gröbner, S. (First author)DKFZ* ; Worst, B. (First author)DKFZ* ; Weischenfeldt, J. ; Buchhalter, I.DKFZ* ; Kleinheinz, K.DKFZ* ; Rudneva, V. A. ; Johann, P.DKFZ* ; Balasubramanian, G. P. ; Segura-Wang, M. ; Brabetz, S.DKFZ* ; Bender, S. ; Hutter, B.DKFZ* ; Sturm, D.DKFZ* ; Pfaff, E.DKFZ* ; Hübschmann, D.DKFZ* ; Zipprich, G.DKFZ* ; Heinold, M.DKFZ* ; Eils, J.DKFZ* ; Lawerenz, C.DKFZ* ; Erkek, S.DKFZ* ; Lambo, S.DKFZ* ; Waszak, S. ; Blattmann, C. ; Borkhardt, A. ; Kuhlen, M. ; Eggert, A. ; Fulda, S. ; Gessler, M. ; Wegert, J. ; Kappler, R. ; Baumhoer, D. ; Burdach, S. ; Kirschner-Schwabe, R. ; Kontny, U. ; Kulozik, A. E. ; Lohmann, D. ; Hettmer, S. ; Eckert, C. ; Bielack, S. ; Nathrath, M. ; Niemeyer, C. ; Richter, G. H. ; Schulte, J.DKFZ* ; Siebert, R. ; Westermann, F.DKFZ* ; Molenaar, J. J. ; Vassal, G. ; Witt, H.DKFZ* ; Project, I. P. (Collaboration Author) ; Project, I. M. (Collaboration Author) ; Burkhardt, B. ; Kratz, C. P. ; Witt, O.DKFZ* ; van Tilburg, C. M. ; Kramm, C. M. ; Fleischhack, G. ; Dirksen, U. ; Rutkowski, S. ; Frühwald, M. ; von Hoff, K. ; Wolf, S.DKFZ* ; Klingebiel, T. ; Koscielniak, E. ; Landgraf, P. ; Koster, J. ; Resnick, A. C. ; Zhang, J. ; Liu, Y. ; Zhou, X. ; Waanders, A. J. ; Zwijnenburg, D. A. ; Raman, P. ; Brors, B.DKFZ* ; Weber, U.DKFZ* ; Northcott, P. A. ; Pajtler, K.DKFZ* ; Kool, M.DKFZ* ; Piro, R. M. ; Korbel, J. O. ; Schlesner, M.DKFZ* ; Eils, R.DKFZ* ; Jones, D.DKFZ* ; Lichter, P.DKFZ* ; Chavez, L. (Last author)DKFZ* ; Zapatka, M. (Last author)DKFZ* ; Pfister, S. (Last author)DKFZ*

2018
Nature Publ. Group London [u.a.]

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Please use a persistent id in citations: doi:10.1038/nature25480

Abstract: Pan-cancer analyses that examine commonalities and differences among various cancer types have emerged as a powerful way to obtain novel insights into cancer biology. Here we present a comprehensive analysis of genetic alterations in a pan-cancer cohort including 961 tumours from children, adolescents, and young adults, comprising 24 distinct molecular types of cancer. Using a standardized workflow, we identified marked differences in terms of mutation frequency and significantly mutated genes in comparison to previously analysed adult cancers. Genetic alterations in 149 putative cancer driver genes separate the tumours into two classes: small mutation and structural/copy-number variant (correlating with germline variants). Structural variants, hyperdiploidy, and chromothripsis are linked to TP53 mutation status and mutational signatures. Our data suggest that 7-8% of the children in this cohort carry an unambiguous predisposing germline variant and that nearly 50% of paediatric neoplasms harbour a potentially druggable event, which is highly relevant for the design of future clinical trials.

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Contributing Institute(s):

1. B062 Pädiatrische Neuroonkologie (B062)
2. DKTK Heidelberg (L101)
3. Theoretische Bioinformatik (B080)
4. Angewandte Bioinformatik (G200)
5. B087 Neuroblastom Genomik (B087)
6. KKE Pädiatrische Onkologie (G340)
7. Hochdurchsatz-Sequenzierung (W190)
8. B060 Molekulare Genetik (B060)
9. Bioinformatik und Omics Data Analytics (B240)

Research Program(s):

1. 312 - Functional and structural genomics (POF3-312) (POF3-312)

Appears in the scientific report 2018

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Database coverage:
; BIOSIS Previews ; Current Contents - Agriculture, Biology and Environmental Sciences ; Current Contents - Life Sciences ; Current Contents - Physical, Chemical and Earth Sciences ; Ebsco Academic Search ; IF >= 30 ; JCR ; NCBI Molecular Biology Database ; Nationallizenz ; SCOPUS ; Science Citation Index ; Science Citation Index Expanded ; Thomson Reuters Master Journal List ; Web of Science Core Collection ; Zoological Record

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