Chromothripsis and beyond: rapid genome evolution from complex chromosomal rearrangements
TLDR
The impact of massive chromosomal change for the development of diseases such as cancer and for evolution more generally is considered and current models for underlying mechanisms are summarized.Abstract:
Recent genome sequencing studies have identified several classes of complex genomic rearrangements that appear to be derived from a single catastrophic event. These discoveries identify ways that genomes can be altered in single large jumps rather than by many incremental steps. Here we compare and contrast these phenomena and examine the evidence that they arise "all at once." We consider the impact of massive chromosomal change for the development of diseases such as cancer and for evolution more generally. Finally, we summarize current models for underlying mechanisms and discuss strategies for testing these models.read more
Citations
More filters
Journal ArticleDOI
Pathways to chromothripsis
Robert Ivkov,Fred Bunz +1 more
TL;DR: This work integrates a novel PTCH1 homolog that is regulated by p53 into a hypothetical model for the catastrophic DNA breakage that appears to trigger profound chromosomal rearrangements in medulloblastomas.
Journal ArticleDOI
Effect of low doses of estradiol and tamoxifen on breast cancer cell karyotypes.
Milena Rondón-Lagos,Nelson Rangel,Ludovica Verdun di Cantogno,Laura Annaratone,Isabella Castellano,Rosalia Russo,Tilde Manetta,Caterina Marchiò,Anna Sapino +8 more
TL;DR: In vitro results provide insights into the potential role of low doses of E2 and TAM in inducing chromosomal rearrangements in breast cancer cells.
Journal ArticleDOI
Utilização de biomarcadores de genotoxicidade e expressão gênica na avaliação de trabalhadores de postos de combustíveis expostos a vapores de gasolina
Daniel Valente,Isabele Campos Costa-Amaral,Leandro Vargas Barreto de Carvalho,Marcus Vinicius Corrêa dos Santos,Vinicio Soares de Castro,Daniela del Rosário Flores Rodrigues,Anna De Falco,Anna De Falco,Cristiane Barata Silva,Simone Mitri Nogueira,Eline Simões Gonçalves,Josino Costa Moreira,Leiliane Coelho André,Liliane Reis Teixeira,Paula de Novaes Sarcinelli,Herbert Ary Sisenando,Herbert Ary Sisenando,Monica Stuck de Oliveira,Jamila Alessandra Perini,Rita de Cássia Oliveira da Costa Mattos,Ariane Leites Larentis +20 more
TL;DR: It is observed that genetic and epigenetic damage tests are used in gas station attendants who participate in worker’s health programs or in researches, although a short number of publications on the theme have been identified.
Journal ArticleDOI
Mouse models in the era of large human tumour sequencing studies.
TL;DR: An overview of approaches for complementing human studies with data from mouse models of human cancer and state-of-the-art technological developments for cancer gene discovery and validation in mice are discussed.
Journal ArticleDOI
Extrachromosomal circular DNA (eccDNA): an emerging star in cancer
TL;DR: Extrachromosomal circular DNA (eccDNA) is defined as a type of circular DNA that exists widely in nature and is independent of chromosomes as discussed by the authors , and it can carry complete gene information, especially the oncogenic driver genes that are often carried in tumors.
References
More filters
Journal ArticleDOI
Hallmarks of cancer: the next generation.
TL;DR: Recognition of the widespread applicability of these concepts will increasingly affect the development of new means to treat human cancer.
Journal ArticleDOI
Signatures of mutational processes in human cancer
Ludmil B. Alexandrov,Serena Nik-Zainal,Serena Nik-Zainal,David C. Wedge,Samuel Aparicio,Sam Behjati,Sam Behjati,Andrew V. Biankin,Graham R. Bignell,Niccolo Bolli,Niccolo Bolli,Åke Borg,Anne Lise Børresen-Dale,Anne Lise Børresen-Dale,Sandrine Boyault,Birgit Burkhardt,Adam Butler,Carlos Caldas,Helen Davies,Christine Desmedt,Roland Eils,Jorunn E. Eyfjord,John A. Foekens,Mel Greaves,Fumie Hosoda,Barbara Hutter,Tomislav Ilicic,Sandrine Imbeaud,Sandrine Imbeaud,Marcin Imielinsk,Natalie Jäger,David T. W. Jones,David T. Jones,Stian Knappskog,Stian Knappskog,Marcel Kool,Sunil R. Lakhani,Carlos López-Otín,Sancha Martin,Nikhil C. Munshi,Nikhil C. Munshi,Hiromi Nakamura,Paul A. Northcott,Marina Pajic,Elli Papaemmanuil,Angelo Paradiso,John V. Pearson,Xose S. Puente,Keiran Raine,Manasa Ramakrishna,Andrea L. Richardson,Andrea L. Richardson,Julia Richter,Philip Rosenstiel,Matthias Schlesner,Ton N. Schumacher,Paul N. Span,Jon W. Teague,Yasushi Totoki,Andrew Tutt,Rafael Valdés-Mas,Marit M. van Buuren,Laura van ’t Veer,Anne Vincent-Salomon,Nicola Waddell,Lucy R. Yates,Icgc PedBrain,Jessica Zucman-Rossi,Jessica Zucman-Rossi,P. Andrew Futreal,Ultan McDermott,Peter Lichter,Matthew Meyerson,Matthew Meyerson,Sean M. Grimmond,Reiner Siebert,Elias Campo,Tatsuhiro Shibata,Stefan M. Pfister,Stefan M. Pfister,Peter J. Campbell,Peter J. Campbell,Peter J. Campbell,Michael R. Stratton,Michael R. Stratton +84 more
TL;DR: It is shown that hypermutation localized to small genomic regions, ‘kataegis’, is found in many cancer types, and this results reveal the diversity of mutational processes underlying the development of cancer.
Journal ArticleDOI
Comprehensive mapping of long-range interactions reveals folding principles of the human genome.
Erez Lieberman Aiden,Nynke L. van Berkum,Louise Williams,Maxim Imakaev,Tobias Ragoczy,Tobias Ragoczy,Agnes Telling,Agnes Telling,Ido Amit,Bryan R. Lajoie,Peter J. Sabo,Michael O. Dorschner,Richard Sandstrom,Bradley E. Bernstein,Bradley E. Bernstein,Michaël Bender,Mark Groudine,Mark Groudine,Andreas Gnirke,John A. Stamatoyannopoulos,Leonid A. Mirny,Eric S. Lander,Eric S. Lander,Job Dekker +23 more
TL;DR: Hi-C is described, a method that probes the three-dimensional architecture of whole genomes by coupling proximity-based ligation with massively parallel sequencing and demonstrates the power of Hi-C to map the dynamic conformations of entire genomes.
Journal ArticleDOI
Cancer Genome Landscapes
Bert Vogelstein,Nickolas Papadopoulos,Victor E. Velculescu,Shibin Zhou,Luis A. Diaz,Kenneth W. Kinzler +5 more
TL;DR: This work has revealed the genomic landscapes of common forms of human cancer, which consists of a small number of “mountains” (genes altered in a high percentage of tumors) and a much larger number of "hills" (Genes altered infrequently).
Journal ArticleDOI
The clonal evolution of tumor cell populations
TL;DR: Each patient's cancer may require individual specific therapy, and even this may be thwarted by emergence of a genetically variant subline resistant to the treatment, which should be directed toward understanding and controlling the evolutionary process in tumors before it reaches the late stage usually seen in clinical cancer.
Related Papers (5)
Massive Genomic Rearrangement Acquired in a Single Catastrophic Event during Cancer Development
Philip J. Stephens,Christopher Greenman,Beiyuan Fu,Fengtang Yang,Graham R. Bignell,Laura Mudie,Erin Pleasance,King Wai Lau,David Beare,Lucy Stebbings,Stuart McLaren,Meng-Lay Lin,David J. McBride,Ignacio Varela,Serena Nik-Zainal,Catherine Leroy,Mingming Jia,Andrew Menzies,Adam Butler,Jon W. Teague,Michael A. Quail,John Burton,Harold Swerdlow,Nigel P. Carter,Laura Morsberger,Christine A. Iacobuzio-Donahue,George A. Follows,Anthony R. Green,Adrienne M. Flanagan,Adrienne M. Flanagan,Michael R. Stratton,P. Andrew Futreal,Peter J. Campbell,Peter J. Campbell +33 more
Punctuated Evolution of Prostate Cancer Genomes
Sylvan C. Baca,Davide Prandi,Michael S. Lawrence,Juan Miguel Mosquera,Alessandro Romanel,Yotam Drier,Yotam Drier,Kyung Park,Naoki Kitabayashi,Theresa Y. MacDonald,Mahmoud Ghandi,Eliezer M. Van Allen,Eliezer M. Van Allen,Gregory V. Kryukov,Gregory V. Kryukov,Gregory V. Kryukov,Andrea Sboner,Jean-Philippe Theurillat,David Soong,Elizabeth Nickerson,Daniel Auclair,Ashutosh K. Tewari,Himisha Beltran,Robert C. Onofrio,Gunther Boysen,Candace Guiducci,Christopher E. Barbieri,Kristian Cibulskis,Andrey Sivachenko,Scott L. Carter,Gordon Saksena,Douglas Voet,Alex H. Ramos,Alex H. Ramos,Wendy Winckler,Michelle Cipicchio,Kristin G. Ardlie,Philip W. Kantoff,Michael F. Berger,Stacey Gabriel,Todd R. Golub,Matthew Meyerson,Eric S. Lander,Olivier Elemento,Gad Getz,Francesca Demichelis,Francesca Demichelis,Mark A. Rubin,Levi A. Garraway +48 more
Genome Sequencing of Pediatric Medulloblastoma Links Catastrophic DNA Rearrangements with TP53 Mutations
Tobias Rausch,David T.W. Jones,Marc Zapatka,Adrian M. Stütz,Thomas Zichner,Joachim Weischenfeldt,Natalie Jäger,Marc Remke,David Shih,Paul A. Northcott,Elke Pfaff,Jelena Tica,Qi Wang,Luca Massimi,Hendrik Witt,Sebastian Bender,Sabrina Pleier,Huriye Cin,Cynthia Hawkins,Christian Beck,Andreas von Deimling,Volkmar Hans,Benedikt Brors,Roland Eils,Wolfram Scheurlen,Jonathon Blake,Vladimir Benes,Andreas E. Kulozik,Olaf Witt,Olaf Witt,Dianna Martin,Cindy Zhang,Rinnat Porat,Diana M. Merino,Jonathan D. Wasserman,Nada Jabado,Adam M. Fontebasso,Lars Bullinger,Frank G. Rücker,Konstanze Döhner,Hartmut Döhner,Jan Koster,Jan J. Molenaar,Rogier Versteeg,Marcel Kool,Uri Tabori,David Malkin,Andrey Korshunov,Michael D. Taylor,Peter Lichter,Stefan M. Pfister,Jan O. Korbel +51 more