The European database of L1-HS retrotransposon insertions in humans

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Study ID   Lee2012
Lee, E., Iskow, R., Yang, L., Gokcumen, O., Haseley, P., Luquette, L.J., Lohr, J.G., Harris, C.C., Ding, L., et al. (2012) Landscape of somatic retrotransposition in human cancers. Science, 337, 967-971.
Pubmed:   PMID:22745252

In this study single-nucleotide resolution analysis of TE insertions was performed in 43 high-coverage whole-genome sequencing data sets from five cancer types. Authors identified 194 high-confidence somatic TE insertions, as well as thousands of polymorphic TE insertions in matched normal genomes. Somatic insertions were present in epithelial tumors but not in blood or brain cancers. Somatic L1 insertions tend to occur in genes that are commonly mutated in cancer, disrupt the expression of the target genes, and are biased toward regions of cancer- specific DNA hypomethylation, highlighting their potential impact in tumorigenesis.

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