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

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, Selja Koskensalo, Anna Lepistö, Laura Renkonen-Sinisalo, Toni Seppälä, Teijo Kuopio, Jan Böhm, Jukka-Pekka Mecklin, Outi Kilpivaara, Esa Pitkänen, Kimmo Palin and Lauri A. Aaltonen ()
Additional contact information
Tatiana Cajuso: Faculty of Medicine University of Helsinki, Biomedicum Helsinki
Päivi Sulo: Faculty of Medicine University of Helsinki, Biomedicum Helsinki
Tomas Tanskanen: Faculty of Medicine University of Helsinki, Biomedicum Helsinki
Riku Katainen: Faculty of Medicine University of Helsinki, Biomedicum Helsinki
Aurora Taira: Faculty of Medicine University of Helsinki, Biomedicum Helsinki
Ulrika A. Hänninen: Faculty of Medicine University of Helsinki, Biomedicum Helsinki
Johanna Kondelin: Faculty of Medicine University of Helsinki, Biomedicum Helsinki
Linda Forsström: Faculty of Medicine University of Helsinki, Biomedicum Helsinki
Niko Välimäki: Faculty of Medicine University of Helsinki, Biomedicum Helsinki
Mervi Aavikko: Faculty of Medicine University of Helsinki, Biomedicum Helsinki
Eevi Kaasinen: Faculty of Medicine University of Helsinki, Biomedicum Helsinki
Ari Ristimäki: Faculty of Medicine University of Helsinki, Biomedicum Helsinki
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
Jan Böhm: Central Finland Health Care District
Jukka-Pekka Mecklin: Jyväskylä Central Hospital
Outi Kilpivaara: Faculty of Medicine University of Helsinki, Biomedicum Helsinki
Esa Pitkänen: Faculty of Medicine University of Helsinki, Biomedicum Helsinki
Kimmo Palin: Faculty of Medicine University of Helsinki, Biomedicum Helsinki
Lauri A. Aaltonen: Faculty of Medicine University of Helsinki, Biomedicum Helsinki

Nature Communications, 2019, vol. 10, issue 1, 1-9

Abstract: 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.

Date: 2019
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DOI: 10.1038/s41467-019-11770-0

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