Pan-Cancer analysis of whole genomes identifies driver rearrangements promoted by LINE-1 retrotransposition

Published in Nature Genetics, 2020

Recommended citation: Rodriguez-Martin, B et al (includes Bruzos AL). (2020). "Pan-Cancer analysis of whole genomes identifies driver rearrangements promoted by LINE-1 retrotransposition." Nature Genetics. 52:306-319. doi: 10.1038/s41588-019-0562-0 - IF(2020) = 38.333 https://doi.org/10.1038/s41588-019-0562-0

Alicia’s Citation:
Rodriguez-Martin, B. et al. (includes Bruzos A.L.). 2020. “Pan-Cancer analysis of whole genomes identifies driver rearrangements promoted by LINE-1 retrotransposition”. Nature Genetics, 52:306-319. IF = 38.333 (2020).

Other citation (more authors): Rodriguez-Martin, B; Alvarez, EG; Baez-Ortega, A; Zamora, J; Supek, F; Demeulemeester, J; Santamarina, M; Ju, YS; Temes, J; Garcia-Souto, D; Detering, H; Li, Y; Rodriguez-Castro, J; Dueso-Barroso, A; Bruzos, AL; … Tubio, JMC. (2020) Pan-Cancer analysis of whole genomes identifies driver rearrangements promoted by LINE-1 retrotransposition. Nature Genetics, 52:306-319. IF = 38.333 (2020). DOI: https://doi.org/10.1038/s41588-019-0562-0

About the paper:

Scope: we investigated long interspersed nuclear element-1 (L1) retrotransposition in driving oncogenesis. We identified 19,166 somatically acquired retrotransposition events, impacting 35% of the samples and being L1 insertions the most frequent type in certain cancer types, such as oesophageal adenocarcinoma, head-and-neck, and colorectal cancers. We reported a novel mutational mechanism by which aberrant L1 integrations promote genomic rearrangements, including deletion of tumour-suppressor genes, induction of translocations, and large-scale duplications, among others. Impact: it provides insights into the role of retrotransposon integrations, particularly L1 retrotransposition, in driving genomic rearrangements and oncogenesis across a wide spectrum of cancer types significantly advancing our understanding of the molecular mechanisms driving cancer. My contribution: I catalogued the retrotransposition events of L1.

More information:
Visit online version: doi.org/10.1038/s41588-019-0562-0
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Authorship:
Position of AL Bruzos: 15
Total number of authors: 53

Journal information
ISSN: 1061-4036
eISSN: 1546-1718
Current Publisher: NATURE PORTFOLIO. HEIDELBERGER PLATZ 3, BERLIN 14197, GERMANY
Journal Impact Factor (JIF): 38.333 (2020) WoS Research Areas: Genetics & Heredity
JCR Category: Genetics & Heredity in SCIE edition
JCR Category Rank: 2/175
JCR Category Quartile: Q1

Peer-review process:
Received: 21 September 2017
Accepted: 26 November 2019
Published: 05 February 2020

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