DKFZ Junior Group Genome Instability in Tumors

Dr. Aurélie Ernst


Unknown before the next-generation sequencing era, chromothripsis is a new phenomenon of genome instability, by which a presumably single catastrophic event generates extensive genomic rearrangements of one or a few chromosome(s). Importantly, chromothripsis may initiate a substantial proportion of human cancer cases - as more cancer genomes are being sequenced, more and more tumor entities with prevalence for chromothripsis above 30% emerge. In addition, chromothripsis is linked with poor prognosis for the patients.

Our goal is to decipher the mechanistic basis of this process, the context in which it arises and the implications for cancer patients.


Dr. Aurélie Ernst
Genome Instability in Tumors (B420)
Deutsches Krebsforschungszentrum
Im Neuenheimer Feld 580
69120 Heidelberg
Tel: +49 6221 42 1512

Selected Publications

  • Voronina N, Wong JKL, Hübschmann D, Hlevnjak M, Uhrig S, Heilig CE, Horak P, Kreutzfeldt S, Mock A, Stenzinger A, Hutter B, Fröhlich M, Brors B, Jahn A, Klink B, Gieldon L, Sieverling L, Feuerbach L, Chudasama P, Beck K, Kroiss M, Heining C, Möhrmann L, Fischer A, Schröck E, Glimm H, Zapatka M, Lichter P, Fröhling S, Ernst A. The landscape of chromothripsis across adult cancer types. Nat Commun. 2020 May 8;11(1):2320. doi: 10.1038/s41467-020-16134-7.
  • Ratnaparkhe M, Wong JKL, Wei PC, Hlevnjak M, Kolb T, Simovic M, Haag D, Paul Y, Devens F, Northcott P, Jones DTW, Kool M, Jauch A, Pastorczak A, Mlynarski W, Korshunov A, Kumar R, Downing SM, Pfister SM, Zapatka M, McKinnon PJ, Alt FW, Lichter P, Ernst A. Defective DNA damage repair leads to frequent catastrophic genomic events in murine and human tumors. Nat Commun. 2018 Nov 12;9(1):4760. doi: 10.1038/s41467-018-06925-4. PMID: 30420702
  • Maass KK, Rosing F, Ronchi P, Willmund KV, Devens F, Hergt M, Herrmann H, Lichter P, Ernst A. Altered nuclear envelope structure and proteasome function of micronuclei. Exp Cell Res. 2018 Oct 15;371(2):353-363. doi: 10.1016/j.yexcr.2018.08.029. Epub 2018 Aug 24. PMID: 30149001
  • Ratnaparkhe M, Hlevnjak M, Kolb T, Jauch A, Maass KK, Devens F, Rode A, Hovestadt V, Korshunov A, Pastorczak A, Mlynarski W, Sungalee S, Korbel J, Hoell J, Fischer U, Milde T, Kramm C, Nathrath M, Chrzanowska K, Tausch E, Takagi M, Taga T, Constantini S, Loeffen J, Meijerink J, Zielen S, Gohring G, Schlegelberger B, Maass E, Siebert R, Kunz J, Kulozik AE, Worst B, Jones DT, Pfister SM, Zapatka M, Lichter P, Ernst A. Genomic profiling of Acute lymphoblastic leukemia in ataxia telangiectasia patients reveals tight link between ATM mutations and chromothripsis. Leukemia. 2017 Oct;31(10):2048-2056. doi: 10.1038/leu.2017.55. Epub 2017 Feb 15. PMID: 28196983
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