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Cited by 867Cancer Genomics and DiagnosticsGenomic variations and chromosomal abnormalitiesGenome Rearrangement Algorithms

Patterns of somatic structural variation in human cancer genomes

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Li, Yilong, Roberts, Nicola D., Wala, Jeremiah A., Shapira, Ofer, Schumacher, Steven E., Kumar, Kiran, Khurana, Ekta, Waszak, Sebastian +1404 more·2020·Nature
DOI 10.1038/s41586-019-1913-9PMC PMC7025897
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Abstract

A key mutational process in cancer is structural variation, in which rearrangements delete, amplify or reorder genomic segments that range in size from kilobases to whole chromosomes 1–7 . Here we develop methods to group, classify and describe somatic structural variants, using data from the Pan-Cancer Analysis of Whole Genomes (PCAWG) Consortium of the International Cancer Genome Consortium (ICGC) and The Cancer Genome Atlas (TCGA), which aggregated whole-genome sequencing data from 2,658 cancers across 38 tumour types 8 . Sixteen signatures of structural variation emerged. Deletions have a multimodal size distribution, assort unevenly across tumour types and patients, are enriched in late-replicating regions and correlate with inversions. Tandem duplications also have a multimodal size distribution, but are enriched in early-replicating regions—as are unbalanced translocations. Replication-based mechanisms of rearrangement generate varied chromosomal structures with low-level copy-number gains and frequent inverted rearrangements. One prominent structure consists of 2–7 templates copied from distinct regions of the genome strung together within one locus. Such cycles of templated insertions correlate with tandem duplications, and—in liver cancer—frequently activate the telomerase gene TERT . A wide variety of rearrangement processes are active in cancer, which generate complex configurations of the genome upon which selection can act.

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  • A significant fraction of somatic structural variants arises from MMEJ in human cancer.

    “Consistent with this, a significant fraction of somatic structural variants arises from MMEJ in human cancer (39).”

    From Frequent loss of heterozygosity in CRISPR-Cas9–edited early human embryos (2021) · cites this paper as [39]

    In “Genomic properties of structural variants” (page unavailable), the paper reports a sizable fraction of variants with more junction microhomology than expected by chance. It says the subset with 2–7 bp of microhomology was *probably* generated by MMEJ; it does not establish that a significant fraction definitively arose from MMEJ. (LLM, conf=0.87)

    Experimental — accuracy not yet measured

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Research works printed but not linked: 31

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Li, Y., Roberts, N. D., Wala, J. A., Shapira, O., Schumacher, S. E., Kumar, K., Khurana, E., Waszak, S., Korbel, J. O., Haber, J. E., Imielinski, M., PCAWG Structural Variation Working Group, Akdemir, K. C., Alvarez, E. G., Baez-Ortega, A., Beroukhim, R., Boutros, P. C., Bowtell, D. D. L., Brors, B., Burns, K. H., Campbell, P. J., Chan, K., Chen, K., Cortés-Ciriano, I., Dueso-Barroso, A., Dunford, A. J., Edwards, P. A., Estivill, X., Etemadmoghadam, D., Feuerbach, L., Fink, J. L., Frenkel-Morgenstern, M., Garsed, D. W., Gerstein, M., Gordenin, D. A., Haan, D., Haber, J. E., Hess, J. M., Hutter, B., Imielinski, M., Jones, D. T. W., Ju, Y. S., Kazanov, M. D., Klimczak, L. J., Koh, Y., Korbel, J. O., Kumar, K., Lee, E. A., Lee, J. J.-K., Li, Y., Lynch, A. G., Macintyre, G., Markowetz, F., Martincorena, I., Martinez-Fundichely, A., Meyerson, M., Miyano, S., Nakagawa, H., Navarro, F. C. P., Ossowski, S., Park, P. J., Pearson, J. V., Puiggròs, M., Rippe, K., Roberts, N. D., Roberts, S. A., Rodriguez-Martin, B., Schumacher, S. E., Scully, R., Shackleton, M., Sidiropoulos, N., Sieverling, L., Stewart, C., Torrents, D., Tubio, J. M. C., Villasante, I., Waddell, N., Wala, J. A., Weischenfeldt, J., Yang, L., Yao, X., Yoon, S.-S., Zamora, J., Zhang, C.-Z., Weischenfeldt, J., Beroukhim, R., Campbell, P. J., PCAWG Consortium, Aaltonen, L. A., Abascal, F., Abeshouse, A., Aburatani, H., Adams, D. J., Agrawal, N., Ahn, K. S., Ahn, S.-M., Aikata, H., Akbani, R., Akdemir, K. C., Al-Ahmadie, H., Al-Sedairy, S. T., Al-Shahrour, F., Alawi, M., Albert, M., Aldape, K., Alexandrov, L. B., Ally, A., Alsop, K., Alvarez, E. G., Amary, F., Amin, S. B., Aminou, B., Ammerpohl, O., Anderson, M. J., Ang, Y., Antonello, D., Anur, P., Aparicio, S., Appelbaum, E. L., Arai, Y., Aretz, A., Arihiro, K., Ariizumi, S.-I., Armenia, J., Arnould, L., Asa, S., Assenov, Y., Atwal, G., Aukema, S., Auman, J. T., Aure, M. R. R., Awadalla, P., Aymerich, M., Bader, G. D., Baez-Ortega, A., Bailey, M. H., Bailey, P. J., Balasundaram, M., Balu, S., Bandopadhayay, P., Banks, R. E., Barbi, S., Barbour, A. P., Barenboim, J., Barnholtz-Sloan, J., Barr, H., Barrera, E., Bartlett, J., Bartolome, J., Bassi, C., Bathe, O. F., Baumhoer, D., Bavi, P., Baylin, S. B., Bazant, W., Beardsmore, D., Beck, T. A., Behjati, S., Behren, A., Niu, B., Bell, C., Beltran, S., Benz, C., Berchuck, A., Bergmann, A. K., Bergstrom, E. N., Berman, B. P., Berney, D. M., Bernhart, S. H., Beroukhim, R., Berrios, M., Bersani, S., Bertl, J., Betancourt, M., Bhandari, V., Bhosle, S. G., Biankin, A. V., Bieg, M., Bigner, D., Binder, H., Birney, E., Birrer, M., Biswas, N. K., Bjerkehagen, B., Bodenheimer, T., Boice, L., Bonizzato, G., De Bono, J. S., Boot, A., Bootwalla, M. S., Borg, A., Borkhardt, A., Boroevich, K. A., Borozan, I., Borst, C., Bosenberg, M., Bosio, M., Boultwood, J., Bourque, G., Boutros, P. C., Bova, G. S., Bowen, D. T., Bowlby, R., Bowtell, D. D. 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G., Gut, M., Göke, J., Ha, G., Haake, A., Haan, D., Haas, S., Haase, K., Haber, J. E., Habermann, N., Hach, F., Haider, S., Hama, N., Hamdy, F. C., Hamilton, A., Hamilton, M. P., Han, L., Hanna, G. B., Hansmann, M., Haradhvala, N. J., Harismendy, O., Harliwong, I., Harmanci, A. O., Harrington, E., Hasegawa, T., Haussler, D., Hawkins, S., Hayami, S., Hayashi, S., Hayes, D. N., Hayes, S. J., Hayward, N. K., Hazell, S., He, Y., Heath, A. P., Heath, S. C., Hedley, D., Hegde, A. M., Heiman, D. I., Heinold, M. C., Heins, Z., Heisler, L. E., Hellstrom-Lindberg, E., Helmy, M., Heo, S. G., Hepperla, A. J., Heredia-Genestar, J. M., Herrmann, C., Hersey, P., Hess, J. M., Hilmarsdottir, H., Hinton, J., Hirano, S., Hiraoka, N., Hoadley, K. A., Hobolth, A., Hodzic, E., Hoell, J. I., Hoffmann, S., Hofmann, O., Holbrook, A., Holik, A. Z., Hollingsworth, M. A., Holmes, O., Holt, R. A., Hong, C., Hong, E. P., Hong, J. H., Hooijer, G. 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D., McLellan, M. D., McPherson, J. D., McPherson, J. R., McPherson, T. A., Meier, S. R., Meng, A., Meng, S., Menzies, A., Merrett, N. D., Merson, S., Meyerson, M., Meyerson, W., Mieczkowski, P. A., Mihaiescu, G. L., Mijalkovic, S., Mikkelsen, T., Milella, M., Mileshkin, L., Miller, C. A., Miller, D. K., Miller, J. K., Mills, G. B., Milovanovic, A., Minner, S., Miotto, M., Arnau, G. M., Mirabello, L., Mitchell, C., Mitchell, T. J., Miyano, S., Miyoshi, N., Mizuno, S., Molnár-Gábor, F., Moore, M. J., Moore, R. A., Morganella, S., Morris, Q. D., Morrison, C., Mose, L. E., Moser, C. D., Muiños, F., Mularoni, L., Mungall, A. J., Mungall, K., Musgrove, E. A., Mustonen, V., Mutch, D., Muyas, F., Muzny, D. M., Muñoz, A., Myers, J., Myklebost, O., Möller, P., Nagae, G., Nagrial, A. M., Nahal-Bose, H. K., Nakagama, H., Nakagawa, H., Nakamura, H., Nakamura, T., Nakano, K., Nandi, T., Nangalia, J., Nastic, M., Navarro, A., Navarro, F. C. P., Neal, D. E., Nettekoven, G., Newell, F., Newhouse, S. J., Newton, Y., Ng, A. W. T., Ng, A., Nicholson, J., Nicol, D., Nie, Y., Nielsen, G. P., Nielsen, M. M., Nik-Zainal, S., Noble, M. S., Nones, K., Northcott, P. A., Notta, F., O’Connor, B. D., O’Donnell, P., O’Donovan, M., O’Meara, S., O’Neill, B. P., O’Neill, J. R., Ocana, D., Ochoa, A., Oesper, L., Ogden, C., Ohdan, H., Ohi, K., Ohno-Machado, L., Oien, K. A., Ojesina, A. I., Ojima, H., Okusaka, T., Omberg, L., Ong, C. K., Ossowski, S., Ott, G., Ouellette, B. F. F., P’ng, C., Paczkowska, M., Paiella, S., Pairojkul, C., Pajic, M., Pan-Hammarström, Q., Papaemmanuil, E., Papatheodorou, I., Paramasivam, N., Park, J. W., Park, J.-W., Park, K., Park, K., Park, P. J., Parker, J. S., Parsons, S. L., Pass, H., Pasternack, D., Pastore, A., Patch, A.-M., Pauporté, I., Pea, A., Pearson, J. V., Pedamallu, C. S., Pedersen, J. S., Pederzoli, P., Peifer, M., Pennell, N. A., Perou, C. M., Perry, M. D., Petersen, G. M., Peto, M., Petrelli, N., Petryszak, R., Pfister, S. M., Phillips, M., Pich, O., Pickett, H. A., Pihl, T. D., Pillay, N., Pinder, S., Pinese, M., Pinho, A. V., Pitkänen, E., Pivot, X., Piñeiro-Yáñez, E., Planko, L., Plass, C., Polak, P., Pons, T., Popescu, I., Potapova, O., Prasad, A., Preston, S. R., Prinz, M., Pritchard, A. L., Prokopec, S. D., Provenzano, E., Puente, X. S., Puig, S., Puiggròs, M., Pulido-Tamayo, S., Pupo, G. M., Purdie, C. A., Quinn, M. C., Rabionet, R., Rader, J. S., Radlwimmer, B., Radovic, P., Raeder, B., Raine, K. M., Ramakrishna, M., Ramakrishnan, K., Ramalingam, S., Raphael, B. J., Rathmell, W. K., Rausch, T., Reifenberger, G., Reimand, J., Reis-Filho, J., Reuter, V., Reyes-Salazar, I., Reyna, M. A., Reynolds, S. M., Rheinbay, E., Riazalhosseini, Y., Richardson, A. L., Richter, J., Ringel, M., Ringnér, M., Rino, Y., Rippe, K., Roach, J., Roberts, L. R., Roberts, N. D., Roberts, S. A., Robertson, A. G., Robertson, A. J., Rodriguez, J. B., Rodriguez-Martin, B., Rodríguez-González, F. G., Roehrl, M. H. A., Rohde, M., Rokutan, H., Romieu, G., Rooman, I., Roques, T., Rosebrock, D., Rosenberg, M., Rosenstiel, P. C., Rosenwald, A., Rowe, E. W., Royo, R., Rozen, S. G., Rubanova, Y., Rubin, M. A., Rubio-Perez, C., Rudneva, V. A., Rusev, B. C., Ruzzenente, A., Rätsch, G., Sabarinathan, R., Sabelnykova, V. Y., Sadeghi, S., Sahinalp, S. C., Saini, N., Saito-Adachi, M., Saksena, G., Salcedo, A., Salgado, R., Salichos, L., Sallari, R., Saller, C., Salvia, R., Sam, M., Samra, J. S., Sanchez-Vega, F., Sander, C., Sanders, G., Sarin, R., Sarrafi, I., Sasaki-Oku, A., Sauer, T., Sauter, G., Saw, R. P. M., Scardoni, M., Scarlett, C. J., Scarpa, A., Scelo, G., Schadendorf, D., Schein, J. E., Schilhabel, M. B., Schlesner, M., Schlomm, T., Schmidt, H. K., Schramm, S.-J., Schreiber, S., Schultz, N., Schumacher, S. E., Schwarz, R. F., Scolyer, R. A., Scott, D., Scully, R., Seethala, R., Segre, A. V., Selander, I., Semple, C. A., Senbabaoglu, Y., Sengupta, S., Sereni, E., Serra, S., Sgroi, D. C., Shackleton, M., Shah, N. C., Shahabi, S., Shang, C. A., Shang, P., Shapira, O., Shelton, T., Shen, C., Shen, H., Shepherd, R., Shi, R., Shi, Y., Shiah, Y.-J., Shibata, T., Shih, J., Shimizu, E., Shimizu, K., Shin, S. J., Shiraishi, Y., Shmaya, T., Shmulevich, I., Shorser, S. I., Short, C., Shrestha, R., Shringarpure, S. S., Shriver, C., Shuai, S., Sidiropoulos, N., Siebert, R., Sieuwerts, A. M., Sieverling, L., Signoretti, S., Sikora, K. O., Simbolo, M., Simon, R., Simons, J. V., Simpson, J. T., Simpson, P. T., Singer, S., Sinnott-Armstrong, N., Sipahimalani, P., Skelly, T. J., Smid, M., Smith, J., Smith-McCune, K., Socci, N. D., Sofia, H. J., Soloway, M. G., Song, L., Sood, A. K., Sothi, S., Sotiriou, C., Soulette, C. M., Span, P. N., Spellman, P. T., Sperandio, N., Spillane, A. J., Spiro, O., Spring, J., Staaf, J., Stadler, P. F., Staib, P., Stark, S. G., Stebbings, L., Stefánsson, Ó. A., Stegle, O., Stein, L. D., Stenhouse, A., Stewart, C., Stilgenbauer, S., Stobbe, M. D., Stratton, M. R., Stretch, J. R., Struck, A. J., Stuart, J. M., Stunnenberg, H. G., Su, H., Su, X., Sun, R. X., Sungalee, S., Susak, H., Suzuki, A., Sweep, F., Szczepanowski, M., Sültmann, H., Yugawa, T., Tam, A., Tamborero, D., Tan, B. K. T., Tan, D., Tan, P., Tanaka, H., Taniguchi, H., Tanskanen, T. J., Tarabichi, M., Tarnuzzer, R., Tarpey, P., Taschuk, M. L., Tatsuno, K., Tavaré, S., Taylor, D. F., Taylor-Weiner, A., Teague, J. W., Teh, B. T., Tembe, V., Temes, J., Thai, K., Thayer, S. P., Thiessen, N., Thomas, G., Thomas, S., Thompson, A., Thompson, A. M., Thompson, J. F. F., Thompson, R. H., Thorne, H., Thorne, L. B., Thorogood, A., Tiao, G., Tijanic, N., Timms, L. E., Tirabosco, R., Tojo, M., Tommasi, S., Toon, C. W., Toprak, U. H., Torrents, D., Tortora, G., Tost, J., Totoki, Y., Townend, D., Traficante, N., Treilleux, I., Trotta, J.-R., Trümper, L. H. P., Tsao, M., Tsunoda, T., Tubio, J. M. C., Tucker, O., Turkington, R., Turner, D. J., Tutt, A., Ueno, M., Ueno, N. T., Umbricht, C., Umer, H. M., Underwood, T. J., Urban, L., Urushidate, T., Ushiku, T., Uusküla-Reimand, L., Valencia, A., Van Den Berg, D. J., Van Laere, S., Van Loo, P., Van Meir, E. G., Van den Eynden, G. G., Van der Kwast, T., Vasudev, N., Vazquez, M., Vedururu, R., Veluvolu, U., Vembu, S., Verbeke, L. P. C., Vermeulen, P., Verrill, C., Viari, A., Vicente, D., Vicentini, C., VijayRaghavan, K., Viksna, J., Vilain, R. E., Villasante, I., Vincent-Salomon, A., Visakorpi, T., Voet, D., Vyas, P., Vázquez-García, I., Waddell, N. M., Waddell, N., Wadelius, C., Wadi, L., Wagener, R., Wala, J. A., Wang, J., Wang, J., Wang, L., Wang, Q., Wang, W., Wang, Y., Wang, Z., Waring, P. M., Warnatz, H.-J., Warrell, J., Warren, A. Y., Waszak, S. M., Wedge, D. C., Weichenhan, D., Weinberger, P., Weinstein, J. N., Weischenfeldt, J., Weisenberger, D. J., Welch, I., Wendl, M. C., Werner, J., Whalley, J. P., Wheeler, D. A., Whitaker, H. C., Wigle, D., Wilkerson, M. D., Williams, A., Wilmott, J. S., Wilson, G. W., Wilson, J. M., Wilson, R. K., Winterhoff, B., Wintersinger, J. A., Wiznerowicz, M., Wolf, S., Wong, B. H., Wong, T., Wong, W., Woo, Y., Wood, S., Wouters, B. G., Wright, A. J., Wright, D. W., Wright, M. H., Wu, C.-L., Wu, D.-Y., Wu, G., Wu, J., Wu, K., Wu, Y., Wu, Z., Xi, L., Xia, T., Xiang, Q., Xiao, X., Xing, R., Xiong, H., Xu, Q., Xu, Y., Xue, H., Yachida, S., Yakneen, S., Yamaguchi, R., Yamaguchi, T. N., Yamamoto, M., Yamamoto, S., Yamaue, H., Yang, F., Yang, H., Yang, J. Y., Yang, L., Yang, L., Yang, S., Yang, T.-P., Yang, Y., Yao, X., Yaspo, M.-L., Yates, L., Yau, C., Ye, C., Ye, K., Yellapantula, V. D., Yoon, C. J., Yoon, S.-S., Yousif, F., Yu, J., Yu, K., Yu, W., Yu, Y., Yuan, K., Yuan, Y., Yuen, D., Yung, C. K., Zaikova, O., Zamora, J., Zapatka, M., Zenklusen, J. C., Zenz, T., Zeps, N., Zhang, C.-Z., Zhang, F., Zhang, H., Zhang, H., Zhang, H., Zhang, J., Zhang, J., Zhang, J., Zhang, X., Zhang, X., Zhang, Y., Zhang, Z., Zhao, Z., Zheng, L., Zheng, X., Zhou, W., Zhou, Y., Zhu, B., Zhu, H., Zhu, J., Zhu, S., Zou, L., Zou, X., deFazio, A., van As, N., van Deurzen, C. H. M., van de Vijver, M. J., van’t Veer, L., & von Mering, C.
Affiliations
  • The University of Texas MD Anderson Cancer Center (US)
  • University of Helsinki (FI)
  • Memorial Sloan Kettering Cancer Center (US)
  • Wellcome Sanger Institute (GB)
  • University of Chicago (US)
  • Gachon University (KR)
  • Hiroshima University (JP)
  • Ontario Institute for Cancer Research (CA)
  • BC Cancer Agency (CA)
  • The University of Melbourne (AU)
  • The University of Queensland (AU)
  • University of Verona (IT)
  • Washington University in St. Louis (US)
  • Deutsches Zentrum für Luft- und Raumfahrt e. V. (DLR) (DE)
  • University Health Network (CA)
  • University of North Carolina at Chapel Hill (US)
  • University of Toronto (CA)
  • Broad Institute (US)
  • European Bioinformatics Institute (GB)
  • Oslo University Hospital (NO)
  • La Trobe University (AU)
  • Chinese Academy of Sciences (CN)
  • Universitat Pompeu Fabra (ES)
  • Buck Institute for Research on Aging (US)
  • Medizinische Hochschule Hannover (DE)
  • Cedars-Sinai Medical Center (US)
  • Queen Mary University of London (GB)
  • University of Southern California (US)
  • German Cancer Research Center (DE)
  • Garvan Institute of Medical Research (AU)
  • Massachusetts General Hospital (US)
  • Lund University (SE)
  • Friedrich-Ebert-Krankenhaus (DE)
  • Yale University (US)
  • Tampere University (FI)
  • Fox Chase Cancer Center (US)
  • Radboud University Nijmegen (NL)
  • University of East Anglia (GB)
  • Brigham and Women's Hospital (US)
  • University of Copenhagen (DK)
  • Oregon Health & Science University (US)
  • The University of Sydney (AU)
  • University of California, San Francisco (US)
  • Royal Marsden NHS Foundation Trust (GB)
  • Institute of Cancer Research (GB)
  • University of Cambridge (GB)
  • University of Bern (CH)
  • University of Pavia (IT)
  • University of Alabama at Birmingham (US)
  • University of Tasmania (AU)
  • National Institutes of Health (US)
  • Mayo Clinic (US)
  • Electronics and Telecommunications Research Institute (KR)
  • Korea Advanced Institute of Science and Technology (KR)
  • National Cancer Centre Singapore (SG)
  • University of Auckland (NZ)
  • Royal Children's Hospital (AU)
  • Vancouver Prostate Centre (CA)
  • Johns Hopkins University (US)
  • Harvard University (US)
  • Baylor College of Medicine (US)
  • University of Cologne (DE)
  • Barking, Havering And Redbridge University Hospitals NHS Trust (GB)
  • SIB Swiss Institute of Bioinformatics (CH)
  • University of Geneva (CH)
  • The Francis Crick Institute (GB)
  • Institut Jules Bordet (BE)
  • Princess Margaret Cancer Centre (CA)
  • Weill Cornell Medicine (US)
  • Uppsala University (SE)
  • University of Antwerp (BE)
  • Simon Fraser University (CA)
  • Barcelona Supercomputing Center (ES)
  • University of Glasgow (GB)
  • Icelandic Cancer Society (IS)
  • University of Padua (IT)
  • University of California San Diego (US)
  • Australian Institute of Tropical Health and Medicine (AU)
  • Bioplatforms Australia (AU)
  • Erasmus MC (NL)
  • University of Liverpool (GB)
  • Institute for Research in Biomedicine (ES)
  • RIKEN Center for Integrative Medical Sciences (JP)
  • BGI Group (China) (CN)
  • University of California, Santa Cruz (US)
  • University of Miami (US)
  • St Thomas' Hospital (GB)
  • Leibniz Institute of Virology (LIV) (DE)
  • Aarhus University (DK)
  • Christian-Albrechts-Universität zu Kiel (DE)
  • University of British Columbia (CA)
  • University of Oxford (GB)
  • Stanford Medicine (US)
  • Goethe University Frankfurt (DE)
  • UC San Diego Health System (US)
  • Howard Hughes Medical Institute (US)
  • Salford Royal NHS Foundation Trust (GB)
  • Children's Hospital of Philadelphia (US)
  • Hallym University (KR)
  • Aarhus University Hospital (DK)
  • Amsterdam UMC Location University of Amsterdam (NL)
  • Hong Kong University of Science and Technology (HK)
  • European Molecular Biology Laboratory (DE)
  • Max Delbrück Center (DE)
  • Michael E. DeBakey VA Medical Center (US)
  • Seven Bridges Genomics (United States) (US)
  • Glasgow Royal Infirmary (GB)
  • Endeavor Health (US)
  • McGill University and Génome Québec Innovation Centre (CA)
  • Cancer Research UK (GB)
  • The Netherlands Cancer Institute (NL)
  • South Australia Pathology (AU)
  • National Cancer Center Hospital (JP)
  • University College London (GB)
  • Skolkovo Institute of Science and Technology (RU)
  • Ewha Womans University (KR)
  • Seoul National University (KR)
  • Hanyang University (KR)
  • Hopp Children's Cancer Center Heidelberg (DE)
  • University of Göttingen (DE)
  • Van Andel Institute (US)
  • Children's Medical Research Institute (AU)
  • Berlin Institute of Health at Charité - Universitätsmedizin Berlin (DE)
  • Boston Children's Hospital (US)
  • Asan Medical Center (KR)
  • Consorci Institut D'Investigacions Biomediques August Pi I Sunyer (ES)
  • Institute for Systems Biology (US)
  • Universidad de Oviedo (ES)
  • Universität Ulm (DE)
  • Australian National University (AU)
  • Institució Catalana de Recerca i Estudis Avançats (ES)
  • Mount Sinai Hospital (CA)
  • Heidelberg Academy of Sciences and Humanities (DE)
  • Kyushu University (JP)
  • Roswell Park Comprehensive Cancer Center (US)
  • Research Center for Advanced Science and Technology, The University of Tokyo (JP)
  • National Cancer Centre Japan (JP)
  • Hokkaido University (JP)
  • Chinese University of Hong Kong (HK)
  • St. Jude Children's Research Hospital (US)
  • Cambridge University Hospitals NHS Foundation Trust (GB)
  • Sage Bionetworks (US)
  • Robert Bosch Hospital (DE)
  • Cleveland Clinic (US)
  • Christiana Care Health System (US)
  • Guy's Hospital (GB)
  • Inserm (FR)
  • Spanish National Cancer Research Centre (ES)
  • Royal Surrey County Hospital (GB)
  • QIMR Berghofer Medical Research Institute (AU)
  • Ninewells Hospital (GB)
  • Medical College of Wisconsin (US)
  • Princeton University (US)
  • Vanderbilt University (US)
  • The Ohio State University Comprehensive Cancer Center – Arthur G. James Cancer Hospital and Richard J. Solove Research Institute (US)
  • National Cancer Center Research Institute (JP)
  • Universitätsklinikum Gießen und Marburg (DE)
  • Norfolk and Norwich University Hospital (GB)
  • University of Würzburg (DE)
  • North Bristol NHS Trust (GB)
  • Tata Institute of Fundamental Research (IN)
  • Tata Memorial Hospital (IN)
  • University Medical Center Hamburg-Eppendorf (DE)
  • University of Pittsburgh (US)
  • Korea University (KR)
  • Japan Agency for Medical Research and Development (JP)
  • Walter Reed National Military Medical Center (US)
  • Radboud University Medical Center (NL)
  • SingHealth (SG)
  • Universidade de Santiago de Compostela (ES)
  • Centre Léon Bérard (FR)
  • Royal National Orthopaedic Hospital (GB)
  • Commissariat à l'Énergie Atomique et aux Énergies Alternatives (FR)
  • Lyon 1 Université (FR)
  • Tokyo Medical and Dental University (JP)
  • University Hospitals Birmingham NHS Foundation Trust (GB)
  • Queen's University Belfast (GB)
  • Wakayama Medical University (JP)
  • Tallinn University of Technology (EE)
  • University of Leeds (GB)
  • Ghent University (BE)
  • Government of India (IN)
  • Augusta University (US)
  • Leibniz Institute for Baltic Sea Research Warnemünde (DE)
  • Centre for Human Genetics (GB)
  • Nationwide Children's Hospital (US)
  • Poznan University of Medical Sciences (PL)
  • Huazhong University of Science and Technology (CN)
  • Tokyo Women's Medical University (JP)
  • Hefei University of Technology (CN)
  • Max Planck Institute for Molecular Genetics (DE)
  • Duke-NUS Medical School (SG)
  • Peking University (CN)
  • Second Military Medical University (CN)
  • Northwestern University (US)
ORCID
Venue
Nature
Publisher
Springer Science and Business Media LLC
Published
2020-02-05
Volume
578
Issue
7793
Pages
112-121
ISSN
  • 0028-0836 (ISSN-L)
  • 1476-4687
DOI
10.1038/s41586-019-1913-9
PMC
PMC7025897
OpenAlex
W3004584205
Cited by
867
References
8
Citations by year
2026: 72 · 2025: 119 · 2024: 137 · 2023: 166 · 2022: 155 · 2021: 149 · 2020: 65 · 2019: 1 · 2014: 1
FWCI
46.60
Type
journal article
Language
en
Update notices
correction (2023-01-25)
Open access
Licence
Locations
  • Nature (publishedVersion, cc-by)
  • PubMed Central (publishedVersion, cc-by)
  • PubMed (publishedVersion)
  • Research at the University of Copenhagen (University of Copenhagen) (publishedVersion, other-oa)
  • Rare & Special e-Zone (The Hong Kong University of Science and Technology) (submittedVersion)
  • RePEc: Research Papers in Economics (submittedVersion)
  • UCL Discovery (University College London) (submittedVersion)
  • eScholarship (California Digital Library) (submittedVersion)
  • eScholarship (California Digital Library) (submittedVersion, cc-by)
  • Figshare (submittedVersion, cc-by)
  • Informationszentrum Lebenswissenschaften (ZB MED) (submittedVersion, cc-by)
  • Minerva Access (University of Melbourne) (submittedVersion, cc-by)
  • Lund University Publications (Lund University) (submittedVersion)
  • Research Portal (Queen's University Belfast) (submittedVersion, cc-by)
  • Repositori digital de la UPF (Universitat Pompeu Fabra) (submittedVersion, cc-by)
  • Radboud Repository (Radboud University) (submittedVersion)
  • St Andrews Research Repository (St Andrews Research Repository) (submittedVersion, cc-by)
  • Apollo (University of Cambridge) (submittedVersion, cc-by)
  • Radboud Repository (Radboud University) (submittedVersion, other-oa)
  • Apollo (cc-by)
  • The Francis Crick Institute (cc-by)
Funders
  • Wellcome Trust (103858/Z/14/Z, 103721/Z/14/Z, 088340, 206194, WT088340MA)
  • Francis Crick Institute (10202)
  • Cancer Research UK (23526, 29076)
  • Japan Society for the Promotion of Science (15H05912)
  • National Human Genome Research Institute (T32HG002295)
  • National Cancer Institute (R01CA219943, R01CA095175, R01CA217991, P30CA016672, R01CA188228, R01CA218668)
  • National Institute of General Medical Sciences (P01GM105473, R35GM127029)
Topics
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Cancer Research › Cancer Genomics and Diagnostics
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomic variations and chromosomal abnormalities
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genome Rearrangement Algorithms
Keywords
somatic structural variants, cancer genome, tandem duplication, unbalanced translocation, chromosomal inversions, late-replicating regions, copy number gain, liver cancer, cancer genomics
MeSH terms
Humans, Neoplasms, Genetic Variation, Gene Rearrangement, Genome, Human, Mutagenesis, Insertional, Telomerase, Genomics

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