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@ARTICLE{Ratnaparkhe:128696,
      author       = {M. Ratnaparkhe$^*$ and M. Hlevnjak$^*$ and T. Kolb$^*$ and
                      A. Jauch and K. Maass$^*$ and F. Devens$^*$ and A. Rode$^*$
                      and V. Hovestadt$^*$ and A. Korshunov$^*$ and A. Pastorczak
                      and W. Mlynarski and S. Sungalee and J. Korbel and J. Hoell
                      and U. Fischer and T. Milde$^*$ and C. Kramm and M. Nathrath
                      and K. Chrzanowska and E. Tausch and M. Takagi and T. Taga
                      and S. Constantini and J. Loeffen and J. Meijerink and S.
                      Zielen and G. Gohring and B. Schlegelberger and E. Maass and
                      R. Siebert and J. Kunz and A. E. Kulozik and B. Worst$^*$
                      and D. Jones$^*$ and S. Pfister$^*$ and M. Zapatka$^*$ and
                      P. Lichter$^*$ and A. Ernst$^*$},
      title        = {{G}enomic profiling of {A}cute lymphoblastic leukemia in
                      ataxia telangiectasia patients reveals tight link between
                      {ATM} mutations and chromothripsis.},
      journal      = {Leukemia},
      volume       = {31},
      number       = {10},
      issn         = {1476-5551},
      address      = {Basingstoke},
      publisher    = {Nature Publ. Group},
      reportid     = {DKFZ-2017-04711},
      pages        = {2048 - 2056},
      year         = {2017},
      abstract     = {Recent developments in sequencing technologies led to the
                      discovery of a novel form of genomic instability, termed
                      chromothripsis. This catastrophic genomic event, involved in
                      tumorigenesis, is characterized by tens to hundreds of
                      simultaneously acquired locally clustered rearrangements on
                      one chromosome. We hypothesized that leukemias developing in
                      individuals with Ataxia Telangiectasia, who are born with
                      two mutated copies of the ATM gene, an essential guardian of
                      genome stability, would show a higher prevalence of
                      chromothripsis due to the associated defect in DNA
                      double-strand break repair. Using whole-genome sequencing,
                      fluorescence in situ hybridization and RNA sequencing, we
                      characterized the genomic landscape of Acute Lymphoblastic
                      Leukemia (ALL) arising in patients with Ataxia
                      Telangiectasia. We detected a high frequency of
                      chromothriptic events in these tumors, specifically on
                      acrocentric chromosomes, as compared with tumors from
                      individuals with other types of DNA repair syndromes (27
                      cases total, 10 with Ataxia Telangiectasia). Our data
                      suggest that the genomic landscape of Ataxia Telangiectasia
                      ALL is clearly distinct from that of sporadic ALL.
                      Mechanistically, short telomeres and compromised DNA damage
                      response in cells of Ataxia Telangiectasia patients may be
                      linked with frequent chromothripsis. Furthermore, we show
                      that ATM loss is associated with increased chromothripsis
                      prevalence in additional tumor entities.},
      cin          = {B060 / G380 / G340 / B062 / L101},
      ddc          = {610},
      cid          = {I:(DE-He78)B060-20160331 / I:(DE-He78)G380-20160331 /
                      I:(DE-He78)G340-20160331 / I:(DE-He78)B062-20160331 /
                      I:(DE-He78)L101-20160331},
      pnm          = {313 - Cancer risk factors and prevention (POF3-313)},
      pid          = {G:(DE-HGF)POF3-313},
      typ          = {PUB:(DE-HGF)16},
      pubmed       = {pmid:28196983},
      doi          = {10.1038/leu.2017.55},
      url          = {https://inrepo02.dkfz.de/record/128696},
}