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Retrotransposon insertions can initiate colorectal cancer and are associated with poor survival

Author

Listed:
  • Tatiana Cajuso

    (Faculty of Medicine University of Helsinki, Biomedicum Helsinki
    University of Helsinki, Biomedicum Helsinki)

  • Päivi Sulo

    (Faculty of Medicine University of Helsinki, Biomedicum Helsinki
    University of Helsinki, Biomedicum Helsinki)

  • Tomas Tanskanen

    (Faculty of Medicine University of Helsinki, Biomedicum Helsinki
    University of Helsinki, Biomedicum Helsinki)

  • Riku Katainen

    (Faculty of Medicine University of Helsinki, Biomedicum Helsinki
    University of Helsinki, Biomedicum Helsinki)

  • Aurora Taira

    (Faculty of Medicine University of Helsinki, Biomedicum Helsinki
    University of Helsinki, Biomedicum Helsinki)

  • Ulrika A. Hänninen

    (Faculty of Medicine University of Helsinki, Biomedicum Helsinki
    University of Helsinki, Biomedicum Helsinki)

  • Johanna Kondelin

    (Faculty of Medicine University of Helsinki, Biomedicum Helsinki
    University of Helsinki, Biomedicum Helsinki)

  • Linda Forsström

    (Faculty of Medicine University of Helsinki, Biomedicum Helsinki
    University of Helsinki, Biomedicum Helsinki)

  • Niko Välimäki

    (Faculty of Medicine University of Helsinki, Biomedicum Helsinki
    University of Helsinki, Biomedicum Helsinki)

  • Mervi Aavikko

    (Faculty of Medicine University of Helsinki, Biomedicum Helsinki
    University of Helsinki, Biomedicum Helsinki)

  • Eevi Kaasinen

    (Faculty of Medicine University of Helsinki, Biomedicum Helsinki
    University of Helsinki, Biomedicum Helsinki)

  • Ari Ristimäki

    (Faculty of Medicine University of Helsinki, Biomedicum Helsinki
    University of Helsinki and Helsinki University Hospital)

  • Selja Koskensalo

    (Helsinki University Hospital, University of Helsinki)

  • Anna Lepistö

    (Helsinki University Hospital, University of Helsinki)

  • Laura Renkonen-Sinisalo

    (Helsinki University Hospital, University of Helsinki)

  • Toni Seppälä

    (Helsinki University Hospital, University of Helsinki)

  • Teijo Kuopio

    (University of Jyväskylä
    Central Finland Health Care District)

  • Jan Böhm

    (Central Finland Health Care District)

  • Jukka-Pekka Mecklin

    (Jyväskylä Central Hospital
    University of Jyväskylä)

  • Outi Kilpivaara

    (Faculty of Medicine University of Helsinki, Biomedicum Helsinki
    University of Helsinki, Biomedicum Helsinki)

  • Esa Pitkänen

    (Faculty of Medicine University of Helsinki, Biomedicum Helsinki
    University of Helsinki, Biomedicum Helsinki)

  • Kimmo Palin

    (Faculty of Medicine University of Helsinki, Biomedicum Helsinki
    University of Helsinki, Biomedicum Helsinki)

  • Lauri A. Aaltonen

    (Faculty of Medicine University of Helsinki, Biomedicum Helsinki
    University of Helsinki, Biomedicum Helsinki)

Abstract

Genomic instability pathways in colorectal cancer (CRC) have been extensively studied, but the role of retrotransposition in colorectal carcinogenesis remains poorly understood. Although retrotransposons are usually repressed, they become active in several human cancers, in particular those of the gastrointestinal tract. Here we characterize retrotransposon insertions in 202 colorectal tumor whole genomes and investigate their associations with molecular and clinical characteristics. We find highly variable retrotransposon activity among tumors and identify recurrent insertions in 15 known cancer genes. In approximately 1% of the cases we identify insertions in APC, likely to be tumor-initiating events. Insertions are positively associated with the CpG island methylator phenotype and the genomic fraction of allelic imbalance. Clinically, high number of insertions is independently associated with poor disease-specific survival.

Suggested Citation

  • Tatiana Cajuso & Päivi Sulo & Tomas Tanskanen & Riku Katainen & Aurora Taira & Ulrika A. Hänninen & Johanna Kondelin & Linda Forsström & Niko Välimäki & Mervi Aavikko & Eevi Kaasinen & Ari Ristimäki &, 2019. "Retrotransposon insertions can initiate colorectal cancer and are associated with poor survival," Nature Communications, Nature, vol. 10(1), pages 1-9, December.
    • Handle: RePEc:nat:natcom:v:10:y:2019:i:1:d:10.1038_s41467-019-11770-0
    DOI: 10.1038/s41467-019-11770-0
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    Cited by:

    1. Konsta Karttunen & Divyesh Patel & Jihan Xia & Liangru Fei & Kimmo Palin & Lauri Aaltonen & Biswajyoti Sahu, 2023. "Transposable elements as tissue-specific enhancers in cancers of endodermal lineage," Nature Communications, Nature, vol. 14(1), pages 1-19, December.
    2. A. C. Katz-Summercorn & S. Jammula & A. Frangou & I. Peneva & M. O’Donovan & M. Tripathi & S. Malhotra & M. Pietro & S. Abbas & G. Devonshire & W. Januszewicz & A. Blasko & K. Nowicki-Osuch & S. MacRa, 2022. "Multi-omic cross-sectional cohort study of pre-malignant Barrett’s esophagus reveals early structural variation and retrotransposon activity," Nature Communications, Nature, vol. 13(1), pages 1-17, December.

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