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Extensive transduction of nonrepetitive DNA mediated by L1 retrotransposition in cancer genomes

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Extensive transduction of nonrepetitive DNA mediated by L1 retrotransposition in cancer genomes. / Tubio, Jose M.C.; Li, Yilong; Ju, Young Seok; Martincorena, Inigo; Cooke, Susanna L.; Tojo, Marta; Gundem, Gunes; Pipinikas, Christodoulos P.; Zamora, Jorge; Raine, Keiran; Menzies, Andrew; Roman-Garcia, Pablo; Fullam, Anthony; Gerstung, Moritz; Shlien, Adam; Tarpey, Patrick S.; Papaemmanuil, Elli; Knappskog, Stian; Van Loo, Peter; Ramakrishna, Manasa; Davies, Helen R.; Marshall, John; Wedge, David C.; Teague, Jon W.; Butler, Adam P.; Nik-Zainal, Serena; Alexandrov, Ludmil; Behjati, Sam; Yates, Lucy R.; Bolli, Niccolo; Mudie, Laura; Hardy, Claire; Martin, Sancha; McLaren, Stuart; O'Meara, Sarah; Anderson, Elizabeth; Maddison, Mark; Gamble, Stephen; Foster, Christopher; Warren, Anne Y.; Whitaker, Hayley; Brewer, Daniel; Eeles, Rosalind; Cooper, Colin; Neal, David; Lynch, Andy G.; Visakorpi, Tapio; Isaacs, William B.; Van't Veer, Laura; Caldas, Carlos; Desmedt, Christine; Sotiriou, Christos; Aparicio, Sam; Foekens, John A.; Eyfjörd, Jórunn Erla; Lakhani, Sunil R.; Thomas, Gilles; Myklebost, Ola; Span, Paul N.; Børresen-Dale, Anne Lise; Richardson, Andrea L.; Van De Vijver, Marc; Vincent-Salomon, Anne; Van Den Eynden, Gert G.; Flanagan, Adrienne M.; Futreal, P. Andrew; Janes, Sam M.; Bova, G. Steven; Stratton, Michael R.; McDermott, Ultan; Campbell, Peter J.

In: Science, Vol. 345, No. 6196, 1251343, 01.08.2014.

Research output: Contribution to journalReview ArticleScientificpeer-review

Harvard

Tubio, JMC, Li, Y, Ju, YS, Martincorena, I, Cooke, SL, Tojo, M, Gundem, G, Pipinikas, CP, Zamora, J, Raine, K, Menzies, A, Roman-Garcia, P, Fullam, A, Gerstung, M, Shlien, A, Tarpey, PS, Papaemmanuil, E, Knappskog, S, Van Loo, P, Ramakrishna, M, Davies, HR, Marshall, J, Wedge, DC, Teague, JW, Butler, AP, Nik-Zainal, S, Alexandrov, L, Behjati, S, Yates, LR, Bolli, N, Mudie, L, Hardy, C, Martin, S, McLaren, S, O'Meara, S, Anderson, E, Maddison, M, Gamble, S, Foster, C, Warren, AY, Whitaker, H, Brewer, D, Eeles, R, Cooper, C, Neal, D, Lynch, AG, Visakorpi, T, Isaacs, WB, Van't Veer, L, Caldas, C, Desmedt, C, Sotiriou, C, Aparicio, S, Foekens, JA, Eyfjörd, JE, Lakhani, SR, Thomas, G, Myklebost, O, Span, PN, Børresen-Dale, AL, Richardson, AL, Van De Vijver, M, Vincent-Salomon, A, Van Den Eynden, GG, Flanagan, AM, Futreal, PA, Janes, SM, Bova, GS, Stratton, MR, McDermott, U & Campbell, PJ 2014, 'Extensive transduction of nonrepetitive DNA mediated by L1 retrotransposition in cancer genomes', Science, vol. 345, no. 6196, 1251343. https://doi.org/10.1126/science.1251343

APA

Tubio, J. M. C., Li, Y., Ju, Y. S., Martincorena, I., Cooke, S. L., Tojo, M., ... Campbell, P. J. (2014). Extensive transduction of nonrepetitive DNA mediated by L1 retrotransposition in cancer genomes. Science, 345(6196), [1251343]. https://doi.org/10.1126/science.1251343

Vancouver

Tubio JMC, Li Y, Ju YS, Martincorena I, Cooke SL, Tojo M et al. Extensive transduction of nonrepetitive DNA mediated by L1 retrotransposition in cancer genomes. Science. 2014 Aug 1;345(6196). 1251343. https://doi.org/10.1126/science.1251343

Author

Tubio, Jose M.C. ; Li, Yilong ; Ju, Young Seok ; Martincorena, Inigo ; Cooke, Susanna L. ; Tojo, Marta ; Gundem, Gunes ; Pipinikas, Christodoulos P. ; Zamora, Jorge ; Raine, Keiran ; Menzies, Andrew ; Roman-Garcia, Pablo ; Fullam, Anthony ; Gerstung, Moritz ; Shlien, Adam ; Tarpey, Patrick S. ; Papaemmanuil, Elli ; Knappskog, Stian ; Van Loo, Peter ; Ramakrishna, Manasa ; Davies, Helen R. ; Marshall, John ; Wedge, David C. ; Teague, Jon W. ; Butler, Adam P. ; Nik-Zainal, Serena ; Alexandrov, Ludmil ; Behjati, Sam ; Yates, Lucy R. ; Bolli, Niccolo ; Mudie, Laura ; Hardy, Claire ; Martin, Sancha ; McLaren, Stuart ; O'Meara, Sarah ; Anderson, Elizabeth ; Maddison, Mark ; Gamble, Stephen ; Foster, Christopher ; Warren, Anne Y. ; Whitaker, Hayley ; Brewer, Daniel ; Eeles, Rosalind ; Cooper, Colin ; Neal, David ; Lynch, Andy G. ; Visakorpi, Tapio ; Isaacs, William B. ; Van't Veer, Laura ; Caldas, Carlos ; Desmedt, Christine ; Sotiriou, Christos ; Aparicio, Sam ; Foekens, John A. ; Eyfjörd, Jórunn Erla ; Lakhani, Sunil R. ; Thomas, Gilles ; Myklebost, Ola ; Span, Paul N. ; Børresen-Dale, Anne Lise ; Richardson, Andrea L. ; Van De Vijver, Marc ; Vincent-Salomon, Anne ; Van Den Eynden, Gert G. ; Flanagan, Adrienne M. ; Futreal, P. Andrew ; Janes, Sam M. ; Bova, G. Steven ; Stratton, Michael R. ; McDermott, Ultan ; Campbell, Peter J. / Extensive transduction of nonrepetitive DNA mediated by L1 retrotransposition in cancer genomes. In: Science. 2014 ; Vol. 345, No. 6196.

Bibtex - Download

@article{6b1587b128354fe0bcb207ee528e568b,
title = "Extensive transduction of nonrepetitive DNA mediated by L1 retrotransposition in cancer genomes",
abstract = "Long interspersed nuclear element-1 (L1) retrotransposons are mobile repetitive elements that are abundant in the human genome. L1 elements propagate through RNA intermediates. In the germ line, neighboring, nonrepetitive sequences are occasionally mobilized by the L1 machinery, a process called 3′ transduction. Because 3′ transductions are potentially mutagenic, we explored the extent to which they occur somatically during tumorigenesis. Studying cancer genomes from 244 patients, we found that tumors from 53{\%} of the patients had somatic retrotranspositions, of which 24{\%} were 3′ transductions. Fingerprinting of donor L1s revealed that a handful of source L1 elements in a tumor can spawn from tens to hundreds of 3′ transductions, which can themselves seed further retrotranspositions. The activity of individual L1 elements fluctuated during tumor evolution and correlated with L1 promoter hypomethylation. The 3′ transductions disseminated genes, exons, and regulatory elements to new locations, most often to heterochromatic regions of the genome.",
author = "Tubio, {Jose M.C.} and Yilong Li and Ju, {Young Seok} and Inigo Martincorena and Cooke, {Susanna L.} and Marta Tojo and Gunes Gundem and Pipinikas, {Christodoulos P.} and Jorge Zamora and Keiran Raine and Andrew Menzies and Pablo Roman-Garcia and Anthony Fullam and Moritz Gerstung and Adam Shlien and Tarpey, {Patrick S.} and Elli Papaemmanuil and Stian Knappskog and {Van Loo}, Peter and Manasa Ramakrishna and Davies, {Helen R.} and John Marshall and Wedge, {David C.} and Teague, {Jon W.} and Butler, {Adam P.} and Serena Nik-Zainal and Ludmil Alexandrov and Sam Behjati and Yates, {Lucy R.} and Niccolo Bolli and Laura Mudie and Claire Hardy and Sancha Martin and Stuart McLaren and Sarah O'Meara and Elizabeth Anderson and Mark Maddison and Stephen Gamble and Christopher Foster and Warren, {Anne Y.} and Hayley Whitaker and Daniel Brewer and Rosalind Eeles and Colin Cooper and David Neal and Lynch, {Andy G.} and Tapio Visakorpi and Isaacs, {William B.} and {Van't Veer}, Laura and Carlos Caldas and Christine Desmedt and Christos Sotiriou and Sam Aparicio and Foekens, {John A.} and Eyfj{\"o}rd, {J{\'o}runn Erla} and Lakhani, {Sunil R.} and Gilles Thomas and Ola Myklebost and Span, {Paul N.} and B{\o}rresen-Dale, {Anne Lise} and Richardson, {Andrea L.} and {Van De Vijver}, Marc and Anne Vincent-Salomon and {Van Den Eynden}, {Gert G.} and Flanagan, {Adrienne M.} and Futreal, {P. Andrew} and Janes, {Sam M.} and Bova, {G. Steven} and Stratton, {Michael R.} and Ultan McDermott and Campbell, {Peter J.}",
year = "2014",
month = "8",
day = "1",
doi = "10.1126/science.1251343",
language = "English",
volume = "345",
journal = "Science",
issn = "0036-8075",
publisher = "American Association for the Advancement of Science",
number = "6196",

}

RIS (suitable for import to EndNote) - Download

TY - JOUR

T1 - Extensive transduction of nonrepetitive DNA mediated by L1 retrotransposition in cancer genomes

AU - Tubio, Jose M.C.

AU - Li, Yilong

AU - Ju, Young Seok

AU - Martincorena, Inigo

AU - Cooke, Susanna L.

AU - Tojo, Marta

AU - Gundem, Gunes

AU - Pipinikas, Christodoulos P.

AU - Zamora, Jorge

AU - Raine, Keiran

AU - Menzies, Andrew

AU - Roman-Garcia, Pablo

AU - Fullam, Anthony

AU - Gerstung, Moritz

AU - Shlien, Adam

AU - Tarpey, Patrick S.

AU - Papaemmanuil, Elli

AU - Knappskog, Stian

AU - Van Loo, Peter

AU - Ramakrishna, Manasa

AU - Davies, Helen R.

AU - Marshall, John

AU - Wedge, David C.

AU - Teague, Jon W.

AU - Butler, Adam P.

AU - Nik-Zainal, Serena

AU - Alexandrov, Ludmil

AU - Behjati, Sam

AU - Yates, Lucy R.

AU - Bolli, Niccolo

AU - Mudie, Laura

AU - Hardy, Claire

AU - Martin, Sancha

AU - McLaren, Stuart

AU - O'Meara, Sarah

AU - Anderson, Elizabeth

AU - Maddison, Mark

AU - Gamble, Stephen

AU - Foster, Christopher

AU - Warren, Anne Y.

AU - Whitaker, Hayley

AU - Brewer, Daniel

AU - Eeles, Rosalind

AU - Cooper, Colin

AU - Neal, David

AU - Lynch, Andy G.

AU - Visakorpi, Tapio

AU - Isaacs, William B.

AU - Van't Veer, Laura

AU - Caldas, Carlos

AU - Desmedt, Christine

AU - Sotiriou, Christos

AU - Aparicio, Sam

AU - Foekens, John A.

AU - Eyfjörd, Jórunn Erla

AU - Lakhani, Sunil R.

AU - Thomas, Gilles

AU - Myklebost, Ola

AU - Span, Paul N.

AU - Børresen-Dale, Anne Lise

AU - Richardson, Andrea L.

AU - Van De Vijver, Marc

AU - Vincent-Salomon, Anne

AU - Van Den Eynden, Gert G.

AU - Flanagan, Adrienne M.

AU - Futreal, P. Andrew

AU - Janes, Sam M.

AU - Bova, G. Steven

AU - Stratton, Michael R.

AU - McDermott, Ultan

AU - Campbell, Peter J.

PY - 2014/8/1

Y1 - 2014/8/1

N2 - Long interspersed nuclear element-1 (L1) retrotransposons are mobile repetitive elements that are abundant in the human genome. L1 elements propagate through RNA intermediates. In the germ line, neighboring, nonrepetitive sequences are occasionally mobilized by the L1 machinery, a process called 3′ transduction. Because 3′ transductions are potentially mutagenic, we explored the extent to which they occur somatically during tumorigenesis. Studying cancer genomes from 244 patients, we found that tumors from 53% of the patients had somatic retrotranspositions, of which 24% were 3′ transductions. Fingerprinting of donor L1s revealed that a handful of source L1 elements in a tumor can spawn from tens to hundreds of 3′ transductions, which can themselves seed further retrotranspositions. The activity of individual L1 elements fluctuated during tumor evolution and correlated with L1 promoter hypomethylation. The 3′ transductions disseminated genes, exons, and regulatory elements to new locations, most often to heterochromatic regions of the genome.

AB - Long interspersed nuclear element-1 (L1) retrotransposons are mobile repetitive elements that are abundant in the human genome. L1 elements propagate through RNA intermediates. In the germ line, neighboring, nonrepetitive sequences are occasionally mobilized by the L1 machinery, a process called 3′ transduction. Because 3′ transductions are potentially mutagenic, we explored the extent to which they occur somatically during tumorigenesis. Studying cancer genomes from 244 patients, we found that tumors from 53% of the patients had somatic retrotranspositions, of which 24% were 3′ transductions. Fingerprinting of donor L1s revealed that a handful of source L1 elements in a tumor can spawn from tens to hundreds of 3′ transductions, which can themselves seed further retrotranspositions. The activity of individual L1 elements fluctuated during tumor evolution and correlated with L1 promoter hypomethylation. The 3′ transductions disseminated genes, exons, and regulatory elements to new locations, most often to heterochromatic regions of the genome.

UR - http://www.scopus.com/inward/record.url?scp=84905900534&partnerID=8YFLogxK

U2 - 10.1126/science.1251343

DO - 10.1126/science.1251343

M3 - Review Article

VL - 345

JO - Science

JF - Science

SN - 0036-8075

IS - 6196

M1 - 1251343

ER -