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Cited by 1,057Cancer Genomics and DiagnosticsChromatin Remodeling and CancerGenomic variations and chromosomal abnormalities

The evolutionary history of 2,658 cancers

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Gerstung, Moritz, Jolly, Clemency, Leshchiner, Ignaty, Dentro, Stefan C., Gonzalez, Santiago, Rosebrock, Daniel, Mitchell, Thomas J., Rubanova, Yulia +1434 more·2020·Nature
DOI 10.1038/s41586-019-1907-7PMC PMC7054212

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Abstract

Cancer develops through a process of somatic evolution 1,2 . Sequencing data from a single biopsy represent a snapshot of this process that can reveal the timing of specific genomic aberrations and the changing influence of mutational processes 3 . Here, by whole-genome sequencing analysis of 2,658 cancers as part of the Pan-Cancer Analysis of Whole Genomes (PCAWG) Consortium of the International Cancer Genome Consortium (ICGC) and The Cancer Genome Atlas (TCGA) 4 , we reconstruct the life history and evolution of mutational processes and driver mutation sequences of 38 types of cancer. Early oncogenesis is characterized by mutations in a constrained set of driver genes, and specific copy number gains, such as trisomy 7 in glioblastoma and isochromosome 17q in medulloblastoma. The mutational spectrum changes significantly throughout tumour evolution in 40% of samples. A nearly fourfold diversification of driver genes and increased genomic instability are features of later stages. Copy number alterations often occur in mitotic crises, and lead to simultaneous gains of chromosomal segments. Timing analyses suggest that driver mutations often precede diagnosis by many years, if not decades. Together, these results determine the evolutionary trajectories of cancer, and highlight opportunities for early cancer detection.

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Crossref · 10.1038/s41586-019-1907-7

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  • Loss of TP53 and RB1 likely occurs early in osteosarcoma transformation, with TP53 inactivation required to propagate abnormal genomes, followed by rapid accumulation of driver lesions such as MYC amplification, PTEN loss and deletion of ATRX.

    “Using these genomic aberrations to infer the evolution of the tumours, loss of TP53 and RB1 likely occurs early in the transformation process (with TP53 inactivation required to propagate abnormal genomes 39,40,41 ), followed by rapid accumulation of driver lesions such as MYC amplification, PTEN loss 42 and deletion of ATRX”

    From Osteosarcoma (2022) · cites this paper as [42]

  • The most likely order of events for osteosarcoma evolution is loss of TP53 and RB1 as early events, with TP53 loss likely initiating genomic instability, followed by whole-genome doubling, gain of 8q (CMYC) and loss of 10q (PTEN).

    “The most likely order of events for osteosarcoma evolution is loss of TP53 and RB1 as early events, of which TP53 loss is likely the initiator of genomic instability 39,40,41 followed by whole-genome doubling, gain of 8q (CMYC) and loss of 10q (PTEN) 42 .”

    From Osteosarcoma (2022) · cites this paper as [42]

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Gerstung, M., Jolly, C., Leshchiner, I., Dentro, S. C., Gonzalez, S., Rosebrock, D., Mitchell, T. J., Rubanova, Y., Anur, P., Yu, K., Tarabichi, M., Deshwar, A., Wintersinger, J., Kleinheinz, K., Vázquez-García, I., Haase, K., Jerman, L., Sengupta, S., Macintyre, G., Malikic, S., Donmez, N., Livitz, D. G., Cmero, M., Demeulemeester, J., Schumacher, S., Fan, Y., Yao, X., Lee, J., Schlesner, M., Boutros, P. C., Bowtell, D. D., Zhu, H., Getz, G., Imielinski, M., Beroukhim, R., Sahinalp, S. C., Ji, Y., Peifer, M., Markowetz, F., Mustonen, V., Yuan, K., Wang, W., Morris, Q. D., PCAWG Evolution & Heterogeneity Working Group, Dentro, S. C., Leshchiner, I., Gerstung, M., Jolly, C., Haase, K., Tarabichi, M., Wintersinger, J., Deshwar, A. G., Yu, K., Gonzalez, S., Rubanova, Y., Macintyre, G., Adams, D. J., Anur, P., Beroukhim, R., Boutros, P. C., Bowtell, D. D., Campbell, P. J., Cao, S., Christie, E. L., Cmero, M., Cun, Y., Dawson, K. J., Demeulemeester, J., Donmez, N., Drews, R. M., Eils, R., Fan, Y., Fittall, M., Garsed, D. W., Getz, G., Ha, G., Imielinski, M., Jerman, L., Ji, Y., Kleinheinz, K., Lee, J., Lee-Six, H., Livitz, D. G., Malikic, S., Markowetz, F., Martincorena, I., Mitchell, T. J., Mustonen, V., Oesper, L., Peifer, M., Peto, M., Raphael, B. J., Rosebrock, D., Sahinalp, S. C., Salcedo, A., Schlesner, M., Schumacher, S., Sengupta, S., Shi, R., Shin, S. J., Spiro, O., Stein, L. D., Vázquez-García, I., Vembu, S., Wheeler, D. A., Yang, T.-P., Yao, X., Yuan, K., Zhu, H., Wang, W., Morris, Q. D., Spellman, P. T., Wedge, D. C., Van Loo, P., Spellman, P. T., Wedge, D. C., Van Loo, P., 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. 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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
  • Broad Institute (US)
  • Memorial Sloan Kettering Cancer Center (US)
  • Wellcome Sanger Institute (GB)
  • University of Chicago (US)
  • Gachon University (KR)
  • Hiroshima University (JP)
  • The University of Texas MD Anderson Cancer Center (US)
  • Ontario Institute for Cancer Research (CA)
  • BC Cancer Agency (CA)
  • The University of Melbourne (AU)
  • Universität Ulm (DE)
  • University of Verona (IT)
  • Oregon Health & Science University (US)
  • Washington University in St. Louis (US)
  • Deutsches Zentrum für Luft- und Raumfahrt e. V. (DLR) (DE)
  • Los Alamos National Laboratory (US)
  • University Health Network (CA)
  • German Cancer Research Center (DE)
  • Oslo University Hospital (NO)
  • University of Cambridge (GB)
  • University of Toronto (CA)
  • University of North Carolina at Chapel Hill (US)
  • University of Leeds (GB)
  • The University of Queensland (AU)
  • European Bioinformatics Institute (GB)
  • Johns Hopkins University (US)
  • Royal Stoke University Hospital (GB)
  • Chinese Academy of Sciences (CN)
  • La Trobe University (AU)
  • Buck Institute for Research on Aging (US)
  • University of California San Diego (US)
  • Cedars-Sinai Medical Center (US)
  • Queen Mary University of London (GB)
  • University of Southern California (US)
  • Garvan Institute of Medical Research (AU)
  • Massachusetts General Hospital (US)
  • Lund University (SE)
  • Friedrich-Ebert-Krankenhaus (DE)
  • Barcelona Supercomputing Center (ES)
  • Yale University (US)
  • Universitat Pompeu Fabra (ES)
  • University of California, Los Angeles (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)
  • The University of Sydney (AU)
  • University of California, San Francisco (US)
  • Royal Marsden NHS Foundation Trust (GB)
  • Institute of Cancer Research (GB)
  • Institut Gustave Roussy (FR)
  • University of Bern (CH)
  • University of Pavia (IT)
  • University of Alabama at Birmingham (US)
  • University of Tasmania (AU)
  • Mayo Clinic (US)
  • National Institutes of Health (US)
  • Electronics and Telecommunications Research Institute (KR)
  • Korea Advanced Institute of Science and Technology (KR)
  • National Cancer Centre Singapore (SG)
  • University of Auckland (NZ)
  • Vancouver Prostate Centre (CA)
  • Mount Sinai Hospital (CA)
  • Harvard University (US)
  • Baylor College of Medicine (US)
  • Barking, Havering And Redbridge University Hospitals NHS Trust (GB)
  • 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)
  • Universitat de Vic - Universitat Central de Catalunya (ES)
  • University of Glasgow (GB)
  • Barcelona Institute of Science and Technology (ES)
  • Icelandic Cancer Society (IS)
  • University of Padua (IT)
  • Australian Institute of Tropical Health and Medicine (AU)
  • Bioplatforms Australia (AU)
  • Erasmus MC (NL)
  • 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)
  • National Institute of Environmental Health Sciences (US)
  • St Thomas' Hospital (GB)
  • Leibniz Institute of Virology (LIV) (DE)
  • Aarhus University (DK)
  • Government of India (IN)
  • 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)
  • Peking University (CN)
  • Children's Hospital of Philadelphia (US)
  • Hallym University (KR)
  • Simon Fraser University (CA)
  • 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)
  • Hanyang University (KR)
  • Glasgow Royal Infirmary (GB)
  • McGill University and Génome Québec Innovation Centre (CA)
  • Cancer Research UK (GB)
  • The Netherlands Cancer Institute (NL)
  • SIB Swiss Institute of Bioinformatics (CH)
  • South Australia Pathology (AU)
  • National Cancer Center Hospital (JP)
  • University College London (GB)
  • Institute for Information Transmission Problems (RU)
  • Skolkovo Institute of Science and Technology (RU)
  • National Cancer Center (KR)
  • Ewha Womans University (KR)
  • Seoul National University Hospital (KR)
  • Seoul National University (KR)
  • Hopp Children's Cancer Center Heidelberg (DE)
  • University of Göttingen (DE)
  • Van Andel Institute (US)
  • University of Cologne (DE)
  • Children's Medical Research Institute (AU)
  • Berlin Institute of Health at Charité - Universitätsmedizin Berlin (DE)
  • Boston Children's Hospital (US)
  • Asan Medical Center (KR)
  • University of Oslo (NO)
  • Consorci Institut D'Investigacions Biomediques August Pi I Sunyer (ES)
  • Institute for Systems Biology (US)
  • University of St Andrews (GB)
  • Universidad de Oviedo (ES)
  • National Institute of Biomedical Genomics (IN)
  • Australian National University (AU)
  • Institució Catalana de Recerca i Estudis Avançats (ES)
  • Kyushu University (JP)
  • Heidelberg Academy of Sciences and Humanities (DE)
  • 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)
  • Cambridge University Hospitals NHS Foundation Trust (GB)
  • Sage Bionetworks (US)
  • Robert Bosch Hospital (DE)
  • Nottingham University Hospitals NHS Trust (GB)
  • 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)
  • Endeavor Health (US)
  • Dana-Farber Cancer Institute (US)
  • Korea University (KR)
  • Japan Agency for Medical Research and Development (JP)
  • Walter Reed National Military Medical Center (US)
  • Radboud University Medical Center (NL)
  • ETH Zurich (CH)
  • University of Iceland (IS)
  • Singapore General Hospital (SG)
  • SingHealth (SG)
  • University of Helsinki (FI)
  • Universidade de Santiago de Compostela (ES)
  • Centre Léon Bérard (FR)
  • Royal National Orthopaedic Hospital (GB)
  • Heidelberg University (DE)
  • Commissariat à l'Énergie Atomique et aux Énergies Alternatives (FR)
  • Maastricht University (NL)
  • 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)
  • Ghent University (BE)
  • Augusta University (US)
  • Centre for Human Genetics (GB)
  • Nationwide Children's Hospital (US)
  • Poznan University of Medical Sciences (PL)
  • Tokyo Women's Medical University (JP)
  • Max Planck Institute for Molecular Genetics (DE)
  • Duke-NUS Medical School (SG)
  • Shanghai Jiao Tong 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
122-128
ISSN
  • 0028-0836 (ISSN-L)
  • 1476-4687
DOI
10.1038/s41586-019-1907-7
PMC
PMC7054212
OpenAlex
W3004647847
Cited by
1,057
References
49
Citations by year
2026: 97 · 2025: 145 · 2024: 140 · 2023: 187 · 2022: 138 · 2021: 205 · 2020: 133 · 2019: 7 · 2018: 4
FWCI
58.56
Type
journal article
Language
en
Update notices
correction (2023-01-25)
Open access
Licence
Locations
  • Nature (publishedVersion, cc-by)
  • Europe PMC (PubMed Central) (publishedVersion, cc-by)
  • PubMed Central (publishedVersion, cc-by)
  • PubMed (publishedVersion)
  • Research Explorer (The University of Manchester) (publishedVersion, cc-by)
  • ENLIGHTEN (Jurnal Bimbingan dan Konseling Islam) (acceptedVersion, cc-by-sa)
  • eScholarship (California Digital Library) (submittedVersion, cc-by)
  • Minerva Access (University of Melbourne) (submittedVersion, cc-by)
  • Lirias (KU Leuven) (submittedVersion, cc-by)
  • PUBLISSO (German National Library of Medicine) (submittedVersion, cc-by)
  • Rare & Special e-Zone (The Hong Kong University of Science and Technology) (submittedVersion)
  • Dépôt institutionnel de l'Université libre de Bruxelles (Université Libre de Bruxelles) (submittedVersion, other-oa)
  • Työväentutkimus Vuosikirja (submittedVersion)
  • Lund University Publications (Lund University) (submittedVersion)
  • Radboud Repository (Radboud University) (submittedVersion)
  • OPUS (Augsburg University) (submittedVersion, cc-by)
Funders
  • Li Ka Shing Foundation
  • Wellcome Trust (FC001202, 103721/Z/14/Z, C14303/A17197)
  • Francis Crick Institute (FC001202, 10202)
  • Cancer Research UK (23526, A17197, 29076, C14303, S_3440, 28290, FC001202, 27176, C14303/A17197 and A19274, A19274, C14303 / A17197, 15973, 19274)
  • University of Cambridge
  • European Commission (703594, HORIZON2020, 747852)
  • Fonds Wetenschappelijk Onderzoek
  • Hutchison Whampoa Limited
  • National Institutes of Health (NIH-R01, CA- 016672, GM108308)
  • Natural Sciences and Engineering Research Council of Canada
  • Medical Research Council (FC001202, MR/L016311/1)
  • National Institute of Mental Health (MH086633, R01MH086633)
  • National Cancer Institute (U24CA211000, CA 016672, R01CA183793, U24CA210957, R01CA132897, NIH R01 CA132897, U24CA143799, U24CA210999, CA132897, P01CA206978, P30CA016672)
Topics
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Cancer Research › Cancer Genomics and Diagnostics
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Chromatin Remodeling and Cancer
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomic variations and chromosomal abnormalities
Keywords
tumor evolution, somatic evolution, mutational processes, driver mutations, mutation spectrum, copy number alterations, genomic instability, trisomy 7, isochromosome 17q, early cancer detection
MeSH terms
DNA Repair, Humans, Neoplasms, Genetic Variation, Genome, Human, Genes, Tumor Suppressor, Mutagenesis, Insertional, Gene Dosage, Evolution, Molecular

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