Complex landscapes of somatic rearrangement in human breast cancer genomes View Full Text


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2009-12

AUTHORS

Philip J. Stephens, David J. McBride, Meng-Lay Lin, Ignacio Varela, Erin D. Pleasance, Jared T. Simpson, Lucy A. Stebbings, Catherine Leroy, Sarah Edkins, Laura J. Mudie, Chris D. Greenman, Mingming Jia, Calli Latimer, Jon W. Teague, King Wai Lau, John Burton, Michael A. Quail, Harold Swerdlow, Carol Churcher, Rachael Natrajan, Anieta M. Sieuwerts, John W. M. Martens, Daniel P. Silver, Anita Langerød, Hege E. G. Russnes, John A. Foekens, Jorge S. Reis-Filho, Laura van ’t Veer, Andrea L. Richardson, Anne-Lise Børresen-Dale, Peter J. Campbell, P. Andrew Futreal, Michael R. Stratton

ABSTRACT

Multiple somatic rearrangements are often found in cancer genomes; however, the underlying processes of rearrangement and their contribution to cancer development are poorly characterized. Here we use a paired-end sequencing strategy to identify somatic rearrangements in breast cancer genomes. There are more rearrangements in some breast cancers than previously appreciated. Rearrangements are more frequent over gene footprints and most are intrachromosomal. Multiple rearrangement architectures are present, but tandem duplications are particularly common in some cancers, perhaps reflecting a specific defect in DNA maintenance. Short overlapping sequences at most rearrangement junctions indicate that these have been mediated by non-homologous end-joining DNA repair, although varying sequence patterns indicate that multiple processes of this type are operative. Several expressed in-frame fusion genes were identified but none was recurrent. The study provides a new perspective on cancer genomes, highlighting the diversity of somatic rearrangements and their potential contribution to cancer development. More... »

PAGES

1005-1010

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  • Journal

    TITLE

    Nature

    ISSUE

    7276

    VOLUME

    462

    Identifiers

    URI

    http://scigraph.springernature.com/pub.10.1038/nature08645

    DOI

    http://dx.doi.org/10.1038/nature08645

    DIMENSIONS

    https://app.dimensions.ai/details/publication/pub.1050729897

    PUBMED

    https://www.ncbi.nlm.nih.gov/pubmed/20033038


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