Chromothripsis, DNA repair and checkpoints defects

被引：12

作者：

Simovic, Milena ^{[1
,2
]}

Ernst, Aurelie ^{[1
]}

机构：

[1] German Canc Res Ctr, Grp Genome Instabil Tumors, Heidelberg, Germany

[2] Heidelberg Univ, Fac Biosci, Heidelberg, Germany

来源：

SEMINARS IN CELL & DEVELOPMENTAL BIOLOGY | 2022年 / 123卷

关键词：

Chromothripsis; Genome instability; DNA repair; Complex genome rearrangements; GENOMIC ALTERATIONS; DAMAGE RESPONSE; CANCER; REARRANGEMENTS; MEDULLOBLASTOMA; EVOLUTION; CONSEQUENCES; MECHANISM; LEUKEMIA; BREAKS;

D O I：

10.1016/j.semcdb.2021.02.001

中图分类号：

Q2 [细胞生物学];

学科分类号：

071009 ; 090102 ;

摘要：

Chromothripsis is a unique form of genome instability characterized by tens to hundreds of DNA double-strand breaks on one or very few chromosomes, followed by error-prone repair. The derivative chromosome(s) display massive rearrangements, which lead to the loss of tumor suppressor function and to the activation of oncogenes. Chromothripsis plays a major role in cancer as well as in other conditions, such as congenital diseases. In this review, we discuss the repair processes involved in the rejoining of the chromosome fragments, the role of DNA repair and checkpoint defects as a cause for chromothripsis as well as DNA repair defects resulting from chromothripsis. Finally, we consider clinical implications and potential therapeutic vulnerabilities that could be utilized to eliminate tumor cells with chromothripsis.

引用

页码：110 / 114

页数：5

共 48 条

[1] Punctuated Evolution of Prostate Cancer Genomes [J].

Baca, Sylvan C. ;

Prandi, Davide ;

Lawrence, Michael S. ;

Mosquera, Juan Miguel ;

Romanel, Alessandro ;

Drier, Yotam ;

Park, Kyung ;

Kitabayashi, Naoki ;

MacDonald, Theresa Y. ;

Ghandi, Mahmoud ;

Van Allen, Eliezer ;

Kryukov, Gregory V. ;

Sboner, Andrea ;

Theurillat, Jean-Philippe ;

Soong, T. David ;

Nickerson, Elizabeth ;

Auclair, Daniel ;

Tewari, Ashutosh ;

Beltran, Himisha ;

Onofrio, Robert C. ;

Boysen, Gunther ;

Guiducci, Candace ;

Barbieri, Christopher E. ;

Cibulskis, Kristian ;

Sivachenko, Andrey ;

Carter, Scott L. ;

Saksena, Gordon ;

Voet, Douglas ;

Ramos, Alex H. ;

Winckler, Wendy ;

Cipicchio, Michelle ;

Ardlie, Kristin ;

Kantoff, Philip W. ;

Berger, Michael F. ;

Gabriel, Stacey B. ;

Golub, Todd R. ;

Meyerson, Matthew ;

Lander, Eric S. ;

Elemento, Olivier ;

Getz, Gad ;

Demichelis, Francesca ;

Rubin, Mark A. ;

Garraway, Levi A. .

CELL, 2013, 153 (03) :666-677

[2]

Bolkestein M., [No title captured]

[3] Evaluation of the pharmacodynamics and pharmacokinetics of the PARP inhibitor olaparib: a Phase I multicentre trial in patients scheduled for elective breast cancer surgery [J].

Bundred, Nigel ;

Gardovskis, Janis ;

Jaskiewicz, Janusz ;

Eglitis, Janis ;

Paramonov, Viktor ;

McCormack, Peter ;

Swaisland, Helen ;

Cavallin, Maria ;

Parry, Tony ;

Carmichael, James ;

Dixon, J. Michael .

INVESTIGATIONAL NEW DRUGS, 2013, 31 (04) :949-958

[4] Pan-cancer analysis of whole genomes [J].

Campbell, Peter J. ;

Getz, Gad ;

Korbel, Jan O. ;

Stuart, Joshua M. ;

Jennings, Jennifer L. ;

Stein, Lincoln D. ;

Perry, Marc D. ;

Nahal-Bose, Hardeep K. ;

Ouellette, B. F. Francis ;

Li, Constance H. ;

Rheinbay, Esther ;

Nielsen, G. Petur ;

Sgroi, Dennis C. ;

Wu, Chin-Lee ;

Faquin, William C. ;

Deshpande, Vikram ;

Boutros, Paul C. ;

Lazar, Alexander J. ;

Hoadley, Katherine A. ;

Louis, David N. ;

Dursi, L. Jonathan ;

Yung, Christina K. ;

Bailey, Matthew H. ;

Saksena, Gordon ;

Raine, Keiran M. ;

Buchhalter, Ivo ;

Kleinheinz, Kortine ;

Schlesner, Matthias ;

Zhang, Junjun ;

Wang, Wenyi ;

Wheeler, David A. ;

Ding, Li ;

Simpson, Jared T. ;

O'Connor, Brian D. ;

Yakneen, Sergei ;

Ellrott, Kyle ;

Miyoshi, Naoki ;

Butler, Adam P. ;

Royo, Romina ;

Shorser, Solomon, I ;

Vazquez, Miguel ;

Rausch, Tobias ;

Tiao, Grace ;

Waszak, Sebastian M. ;

Rodriguez-Martin, Bernardo ;

Shringarpure, Suyash ;

Wu, Dai-Ying ;

Demidov, German M. ;

Delaneau, Olivier ;

Hayashi, Shuto .

NATURE, 2020, 578 (7793) :82-+

[5] Comprehensive analysis of chromothripsis in 2,658 human cancers using whole-genome sequencing [J].

Cortes-Ciriano, Isidro ;

Lee, Jake June-Koo ;

Xi, Ruibin ;

Jain, Dhawal ;

Jung, Youngsook L. ;

Yang, Lixing ;

Gordenin, Dmitry ;

Klimczak, Leszek J. ;

Zhang, Cheng-Zhong ;

Pellman, David S. ;

Park, Peter J. ;

Akdemir, Kadir C. ;

Alvarez, Eva G. ;

Baez-Ortega, Adrian ;

Beroukhim, Rameen ;

Boutros, Paul C. ;

Bowtell, David D. L. ;

Brors, Benedikt ;

Burns, Kathleen H. ;

Campbell, Peter J. ;

Chan, Kin ;

Chen, Ken ;

Dueso-Barroso, Ana ;

Dunford, Andrew J. ;

Edwards, Paul A. ;

Estivill, Xavier ;

Etemadmoghadam, Dariush ;

Feuerbach, Lars ;

Fink, J. Lynn ;

Frenkel-Morgenstern, Milana ;

Garsed, Dale W. ;

Gerstein, Mark ;

Gordenin, Dmitry A. ;

Haan, David ;

Haber, James E. ;

Hess, Julian M. ;

Hutter, Barbara ;

Imielinski, Marcin ;

Jones, David T. W. ;

Ju, Young Seok ;

Kazanov, Marat D. ;

Koh, Youngil ;

Korbel, Jan O. ;

Kumar, Kiran ;

Lee, Eunjung Alice ;

Li, Yilong ;

Lynch, Andy G. ;

Macintyre, Geoff ;

Markowetz, Florian ;

Martincorena, Inigo .

NATURE GENETICS, 2020, 52 (03) :331-+

[6] DNA breaks and chromosome pulverization from errors in mitosis [J].

Crasta, Karen ;

Ganem, Neil J. ;

Dagher, Regina ;

Lantermann, Alexandra B. ;

Ivanova, Elena V. ;

Pan, Yunfeng ;

Nezi, Luigi ;

Protopopov, Alexei ;

Chowdhury, Dipanjan ;

Pellman, David .

NATURE, 2012, 482 (7383) :53-U70

[7] Chromothripsis in acute myeloid leukemia: biological features and impact on survival [J].

Fontana, Maria Chiara ;

Marconi, Giovanni ;

Feenstra, Jelena D. Milosevic ;

Fonzi, Eugenio ;

Papayannidis, Cristina ;

di Rora, Andrea Ghelli Luserna ;

Padella, Antonella ;

Solli, Vincenza ;

Franchini, Eugenia ;

Ottaviani, Emanuela ;

Ferrari, Anna ;

Baldazzi, Carmen ;

Testoni, Nicoletta ;

Iacobucci, Ilaria ;

Soverini, Simona ;

Haferlach, Torsten ;

Guadagnuolo, Viviana ;

Semerad, Lukas ;

Doubek, Michael ;

Steurer, Michael ;

Racil, Zdenek ;

Paolini, Stefania ;

Manfrini, Marco ;

Cavo, Michele ;

Simonetti, Giorgia ;

Kralovics, Robert ;

Martinelli, Giovanni .

LEUKEMIA, 2018, 32 (07) :1609-1620

[8] Chromothripsis and cancer: causes and consequences of chromosome shattering [J].

Forment, Josep V. ;

Kaidi, Abderrahmane ;

Jackson, Stephen P. .

NATURE REVIEWS CANCER, 2012, 12 (10) :663-670

[9] Recurrent genomic alterations characterize medulloblastoma arising from DNA double-strand break repair deficiency [J].

Frappart, Pierre-Olivier ;

Lee, Youngsoo ;

Russell, Helen R. ;

Chalhoub, Nader ;

Wang, Yong-Dong ;

Orii, Kenji E. ;

Zhao, Jingfeng ;

Kondo, Naomi ;

Baker, Suzanne J. ;

McKinnon, Peter J. .

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 2009, 106 (06) :1880-1885

[10] The Architecture and Evolution of Cancer Neochromosomes [J].

Garsed, Dale W. ;

Marshall, Owen J. ;

Corbin, Vincent D. A. ;

Hsu, Arthur ;

Di Stefano, Leon ;

Schroeder, Jan ;

Li, Jason ;

Feng, Zhi-Ping ;

Kim, Bo W. ;

Kowarsky, Mark ;

Lansdell, Ben ;

Brookwell, Ross ;

Myklebost, Ola ;

Meza-Zepeda, Leonardo ;

Holloway, Andrew J. ;

Pedeutour, Florence ;

Choo, K. H. Andy ;

Damore, Michael A. ;

Deans, Andrew J. ;

Papenfuss, Anthony T. ;

Thomas, David M. .

CANCER CELL, 2014, 26 (05) :653-667

← 1 2 3 4 5 →