A1 Journal article (refereed)
Retrotransposon insertions can initiate colorectal cancer and are associated with poor survival (2019)

Cajuso, T., Sulo, P., Tanskanen, T., Katainen, R., Taira, A., Hänninen, U. A., Kondelin, J., Forsström, L., Välimäki, N., Aavikko, M., Kaasinen, E., Ristimäki, A., Koskensalo, S., Lepistö, A., Renkonen-Sinisalo, L., Seppälä, T., Kuopio, T., Böhm, J., Mecklin, J.-P., . . . Aaltonen, L. A. (2019). Retrotransposon insertions can initiate colorectal cancer and are associated with poor survival. Nature Communications, 10, Article 4022. https://doi.org/10.1038/s41467-019-11770-0

JYU authors or editors

Publication details

All authors or editors: Cajuso, Tatiana; Sulo, Päivi; Tanskanen, Tomas; Katainen, Riku; Taira, Aurora; Hänninen, Ulrika A.; Kondelin, Johanna; Forsström, Linda; Välimäki, Niko; Aavikko, Mervi; et al.

Journal or series: Nature Communications

eISSN: 2041-1723

Publication year: 2019

Volume: 10

Article number: 4022

Publisher: Nature Publishing Group

Publication country: United Kingdom

Publication language: English

DOI: https://doi.org/10.1038/s41467-019-11770-0

Research data link: https://doi.org/10.5281/zenodo.3241399

Publication open access: Openly available

Publication channel open access: Open Access channel

Publication is parallel published (JYX): https://jyx.jyu.fi/handle/123456789/65493

Additional information: The whole-genome somatic point mutations have been deposited in the EGA database under the accession code EGAS00001003010. Gene expression values have been deposited in the Zenodo database under the Digital Object Identifier [https://doi.org/10.5281/zenodo.3241399].


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.

Keywords: bowel cancer; genomics; transposons; oncogenes

Contributing organizations

Ministry reporting: Yes

Reporting Year: 2019

JUFO rating: 3

Last updated on 2022-20-09 at 14:03