DKFZ Junior Group Genome Instability in Tumors

PD 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.


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

Selected Publications

  • Simovic M, Bolkestein M, Moustafa M, Wong JKL, Körber V, Benedetto S, Khalid U, Schreiber HS, Jugold M, Korshunov A, Hübschmann D, Mack N, Brons S, Wei PC, Breckwoldt MO, Heiland S, Bendszus M, Jürgen D, Höfer T, Zapatka M, Kool M, Pfister SM, Abdollahi A, Ernst A. Carbon ion radiotherapy eradicates medulloblastomas with chromothripsis in an orthotopic Li-Fraumeni patient-derived mouse model. Neuro Oncol. 2021 May 28:noab127. doi: 10.1093/neuonc/noab127. PMID: 34049392
  • Bolkestein M, Wong JKL, Thewes V, Körber V, Hlevnjak M, Elgaafary S, Schulze M, Kommoss FKF, Sinn HP, Anzeneder T, Hirsch S, Devens F, Schröter P, Höfer T, Schneeweiss A, Lichter P, Zapatka M, Ernst A. Chromothripsis in Human Breast Cancer. Cancer Res. 2020 Nov 15;80(22):4918-4931. doi: 10.1158/0008-5472.CAN-20-1920. PMID: 32973084
  • 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
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