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Molecular screening for new fusion genes in cancer

Nature Genetics volume 40, pages 685–686 (2008)Cite this article

Gene fusions arising from translocations make an important contribution to the development of cancer. A new study uses high-throughput sequencing to characterize such fusions at an unprecedented level of resolution.

On page 722 of this issue, Peter Campbell and colleagues1 present a technically sophisticated study in which they use genome-wide massively parallel paired-end sequencing2,3 to identify somatically acquired rearrangements in cancer. Comparing the germline as well as tumor cell line genomes from two individuals with lung cancer to the reference human genome, they characterized more than 300 germline structural variants and 103 somatic rearrangements to a base-pair level of resolution. Many of the somatic rearrangements were from amplicons, although changes outside these regions were also observed. Particularly fascinating were the findings of some rearrangements leading to abnormal transcripts, including two from internal tandem duplications and two fusion transcripts created by interchromosomal rearrangements. A simultaneous analysis also based on examination of genomic tumor DNA has recently been published by Chen et al.4, and similar findings were very recently presented in a study of breast cancer by Ruan et al.5 using a cDNA approach. It seems, therefore, that new gene fusions—how cancer-specific and prevalent they are remains to be determined—may be detected using this new methodology.

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Authors and Affiliations

  1. Sverre Heim is in the Department of Medical Genetics, The Norwegian Radium Hospital, Rikshospitalet University Hospital and University of Oslo, Norway.,

    Sverre Heim

  2. Felix Mitelman is in the Department of Clinical Genetics, University Hospital, Lund, Sweden. felix.mitelman@med.lu.se,

    Felix Mitelman

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  1. Sverre Heim
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  2. Felix Mitelman
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Heim, S., Mitelman, F. Molecular screening for new fusion genes in cancer. Nat Genet 40, 685–686 (2008). https://doi.org/10.1038/ng0608-685

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