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.
journal_name
Nat Communjournal_title
Nature communicationsauthors
Cajuso T,Sulo P,Tanskanen T,Katainen R,Taira A,Hänninen UA,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 JP,Kilpivaardoi
10.1038/s41467-019-11770-0subject
Has Abstractpub_date
2019-09-06 00:00:00pages
4022issue
1issn
2041-1723pii
10.1038/s41467-019-11770-0journal_volume
10pub_type
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