On the Complexity of Mechanisms and Consequences of Chromothripsis: An Update

Very short DNA segments can be detected and handled by the repair machinery during germline chromothriptic chromosome reassembly

(2018) Zuzana Slamova et al.   HUMAN MUTATION

Chromothripsis and ring chromosome 22: a paradigm of genomic complexity in the Phelan-McDermid syndrome (22q13 deletion syndrome)

(2018) Nehir Kurtas et al.   JOURNAL OF MEDICAL GENETICS

History and evolution of cytogenetic techniques: Current and future applications in basic and clinical research

(2018) Adayabalam S. Balajee et al.   MUTATION RESEARCH-GENETIC TOXICOLOGY AND ENVIRONMENTAL MUTAGENESIS

Position effect, cryptic complexity, and direct gene disruption as disease mechanisms in de novo apparently balanced translocation cases

(2018) Constantia Aristidou et al.   PLoS One

Genomic distribution of 5‐formylcytosine and 5‐carboxylcytosine in human preimplantation embryos

(2018) Anna A. Pendina et al.   MOLECULAR REPRODUCTION AND DEVELOPMENT

Prevention of radiation-induced bystander effects by agents that inactivate cell-free chromatin released from irradiated dying cells

(2018) Saurabh Kirolikar et al.   Cell Death & Disease

Insertional translocation involving an additional nonchromothriptic chromosome in constitutional chromothripsis: Rule or exception?

(2018) Nehir Edibe Kurtas et al.   Molecular Genetics & Genomic Medicine

Mutual regulation of microRNAs and DNA methylation in human cancers

(2017) Sumei Wang et al.   Epigenetics

Case of chromothripsis in a large solitary non-recurrent uterine leiomyoma

(2017) Anna A. Pendina et al.   European Journal of Obstetrics & Gynecology and Reproductive Biology

Exosomal miR-7 Mediates Bystander Autophagy in Lung after Focal Brain Irradiation in Mice

(2017) Shang Cai et al.   International Journal of Biological Sciences

Chromosomal abnormalities in products of conception of first-trimester miscarriages detected by conventional cytogenetic analysis: a review of 1000 cases

(2017) Larysa Y. Pylyp et al.   JOURNAL OF ASSISTED REPRODUCTION AND GENETICS

Genomic profiling of Acute lymphoblastic leukemia in ataxia telangiectasia patients reveals tight link between ATM mutations and chromothripsis

(2017) M Ratnaparkhe et al.   LEUKEMIA

The interplay of epigenetic marks during stem cell differentiation and development

(2017) Yaser Atlasi et al.   NATURE REVIEWS GENETICS

Telomeres in cancer: tumour suppression and genome instability

(2017) John Maciejowski et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

Rebuilding Chromosomes After Catastrophe: Emerging Mechanisms of Chromothripsis

(2017) Peter Ly et al.   TRENDS IN CELL BIOLOGY

Genome-wide 5-hydroxymethylcytosine patterns in human spermatogenesis are associated with semen quality

(2017) Olga A. Efimova et al.   Oncotarget

Chromatin reorganisation in Epstein-Barr virus-infected cells and its role in cancer development

(2017) Michelle J West   Current Opinion in Virology

Molecular dissection of germline chromothripsis in a developmental context using patient-derived iPS cells

(2017) Sjors Middelkamp et al.   Genome Medicine

Impaired nuclear functions in micronuclei results in genome instability and chromothripsis

(2016) Mariona Terradas et al.   ARCHIVES OF TOXICOLOGY

A rare example of germ-line chromothripsis resulting in large genomic imbalance

(2016) Sarah E. Anderson et al.   CLINICAL DYSMORPHOLOGY

The epigenetics of tumour initiation: cancer stem cells and their chromatin

(2016) Alexandra Avgustinova et al.   CURRENT OPINION IN GENETICS & DEVELOPMENT

Heterogeneity of a Constitutional Complex Chromosomal Rearrangement in 2q

(2016) Javier Del Rey et al.   CYTOGENETIC AND GENOME RESEARCH

How can mate-pair sequencing be utilized for cancer patients?

(2016) Ge Gao et al.   EXPERT REVIEW OF MOLECULAR DIAGNOSTICS

A Distinct Class of Chromoanagenesis Events Characterized by Focal Copy Number Gains

(2016) Heleen Masset et al.   HUMAN MUTATION

Germline Chromothripsis Driven by L1-Mediated Retrotransposition and Alu/Alu Homologous Recombination

(2016) Lusine Nazaryan-Petersen et al.   HUMAN MUTATION

Telomere dysfunction and chromothripsis

(2016) Aurélie Ernst et al.   INTERNATIONAL JOURNAL OF CANCER

First trimester pregnancy loss: Clinical implications of genetic testing

(2016) Diana Massalska et al.   JOURNAL OF OBSTETRICS AND GYNAECOLOGY RESEARCH

Selective Y centromere inactivation triggers chromosome shattering in micronuclei and repair by non-homologous end joining

(2016) Peter Ly et al.   NATURE CELL BIOLOGY

Repair Pathway Choices and Consequences at the Double-Strand Break

(2016) Raphael Ceccaldi et al.   TRENDS IN CELL BIOLOGY

Chromothripsis-like chromosomal rearrangements induced by ionizing radiation using proton microbeam irradiation system

(2016) Maki Morishita et al.   Oncotarget

Immortalization capacity of HPV types is inversely related to chromosomal instability

(2016) Denise M. Schütze et al.   Oncotarget

Extracellular miR-1246 promotes lung cancer cell proliferation and enhances radioresistance by directly targeting DR5

(2016) Dexiao Yuan et al.   Oncotarget

Chromothripsis in Healthy Individuals Affects Multiple Protein-Coding Genes and Can Result in Severe Congenital Abnormalities in Offspring

(2015) Mirjam S. de Pagter et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Constitutional chromothripsis involving chromosome 19 in a child with subtle dysmorphic features

(2015) Jia-Chi Wang et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Chromothripsis: A New Mechanism for Rapid Karyotype Evolution

(2015) Mitchell L. Leibowitz et al.   Annual Review of Genetics

ChromothripsisDB: a curated database of chromothripsis

(2015) Jian Yang et al.   BIOINFORMATICS

Linking Micronuclei to Chromosome Fragmentation

(2015) Emily M. Hatch et al.   CELL

Chromothripsis and Kataegis Induced by Telomere Crisis

(2015) John Maciejowski et al.   CELL

A germline chromothripsis event stably segregating in 11 individuals through three generations

(2015) Birgitte Bertelsen et al.   GENETICS IN MEDICINE

Unbalanced translocations arise from diverse mutational mechanisms including chromothripsis

(2015) Brooke Weckselblatt et al.   GENOME RESEARCH

Chromothripsis in cancer cells: An update

(2015) Agata Rode et al.   INTERNATIONAL JOURNAL OF CANCER

Radiation-induced changes in DNA methylation and their relationship to chromosome aberrations in nuclear power plant workers

(2015) Younghyun Lee et al.   INTERNATIONAL JOURNAL OF RADIATION BIOLOGY

Chromothripsis with at least 12 breaks at 1p36.33-p35.3 in a boy with multiple congenital anomalies

(2015) Bruno Faulin Gamba et al.   MOLECULAR GENETICS AND GENOMICS

A cell-based model system links chromothripsis with hyperploidy

(2015) B. R. Mardin et al.   Molecular Systems Biology

Role of chromatin structure modulation by the histone deacetylase inhibitor trichostatin A on the radio-sensitivity of ataxia telangiectasia

(2015) Roberta Meschini et al.   MUTATION RESEARCH-FUNDAMENTAL AND MOLECULAR MECHANISMS OF MUTAGENESIS

Stress induced by premature chromatin condensation triggers chromosome shattering and chromothripsis at DNA sites still replicating in micronuclei or multinucleate cells when primary nuclei enter mitosis

(2015) Georgia I. Terzoudi et al.   MUTATION RESEARCH-GENETIC TOXICOLOGY AND ENVIRONMENTAL MUTAGENESIS

Chromothripsis from DNA damage in micronuclei

(2015) Cheng-Zhong Zhang et al.   NATURE

Prenatal diagnosis of chromothripsis, with nine breaks characterized by karyotyping, FISH, microarray and whole-genome sequencing

(2015) M. J. Macera et al.   PRENATAL DIAGNOSIS

Spermatogenesis, DNA damage and DNA repair mechanisms in male infertility

(2015) Sezgin Gunes et al.   REPRODUCTIVE BIOMEDICINE ONLINE

Exosome-mediated microRNA transfer plays a role in radiation-induced bystander effect

(2015) Shuai Xu et al.   RNA Biology

Constitutional chromothripsis involving the critical region of 9q21.13 microdeletion syndrome

(2015) Rita Genesio et al.   Molecular Cytogenetics

DNA copy number analysis of Grade II–III and Grade IV gliomas reveals differences in molecular ontogeny including chromothripsis associated with IDH mutation status

(2015) Adam Cohen et al.   Acta Neuropathologica Communications

Chromothripsis-like patterns are recurring but heterogeneously distributed features in a survey of 22,347 cancer genome screens

(2014) Haoyang Cai et al.   BMC GENOMICS

Chromosome-breakage genomic instability and chromothripsis in breast cancer

(2014) Ewa Przybytkowski et al.   BMC GENOMICS

The Architecture and Evolution of Cancer Neochromosomes

(2014) Dale W. Garsed et al.   CANCER CELL

Genomics of uterine leiomyomas: insights from high-throughput sequencing

(2014) Miika Mehine et al.   FERTILITY AND STERILITY

Chromothripsis: potential origin in gametogenesis and preimplantation cell divisions. A review

(2014) Franck Pellestor et al.   FERTILITY AND STERILITY

Loeys–Dietz syndrome type 4, caused by chromothripsis, involving the TGFB2 gene

(2014) Paolo Fontana et al.   GENE

Involvement of deleted chromosome 5 in complex chromosomal aberrations in newly diagnosed myelodysplastic syndromes (MDS) is correlated with extremely adverse prognosis

(2014) Zuzana Zemanova et al.   LEUKEMIA RESEARCH

Constitutional and somatic rearrangement of chromosome 21 in acute lymphoblastic leukaemia

(2014) Yilong Li et al.   NATURE

Increased L1 Retrotransposition in the Neuronal Genome in Schizophrenia

(2014) Miki Bundo et al.   NEURON

The elusive evidence for chromothripsis

(2014) Marcus Kinsella et al.   NUCLEIC ACIDS RESEARCH

Whole-genome sequencing identifies genomic heterogeneity at a nucleotide and chromosomal level in bladder cancer

(2014) Carl D. Morrison et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Genomic catastrophes frequently arise in esophageal adenocarcinoma and drive tumorigenesis

(2014) Katia Nones et al.   Nature Communications

Genomic and Functional Overlap between Somatic and Germline Chromosomal Rearrangements

(2014) Sebastiaan van Heesch et al.   Cell Reports

The advantages of SNP arrays over CGH arrays

(2014) Boris Keren   Molecular Cytogenetics

Cytogenetically normal uterine leiomyomas without MED12-mutations – a source to identify unknown mechanisms of the development of uterine smooth muscle tumors

(2014) Carsten Holzmann et al.   Molecular Cytogenetics

What Is a Complex Chromosome Rearrangement?

(2013) Kamlesh Madan   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Punctuated Evolution of Prostate Cancer Genomes

(2013) Sylvan C. Baca et al.   CELL

Criteria for Inference of Chromothripsis in Cancer Genomes

(2013) Jan O. Korbel et al.   CELL

Chromothripsis: Breakage-fusion-bridge over and over again

(2013) Carlos Oscar Sánchez Solorzano et al.   CELL CYCLE

Dynamics of 5-methylcytosine and 5-hydroxymethylcytosine during germ cell reprogramming

(2013) Shinpei Yamaguchi et al.   CELL RESEARCH

Chromothripsis in congenital disorders and cancer: similarities and differences

(2013) Wigard P Kloosterman et al.   CURRENT OPINION IN CELL BIOLOGY

Chromatin remodeling by the small RNA machinery in mammalian cells

(2013) Long-Cheng Li   Epigenetics

The strength of combined cytogenetic and mate-pair sequencing techniques illustrated by a germline chromothripsis rearrangement involving FOXP2

(2013) Lusine Nazaryan et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Breakpoint profiling of 64 cancer genomes reveals numerous complex rearrangements spawned by homology-independent mechanisms

(2013) A. Malhotra et al.   GENOME RESEARCH

A comparative cytogenetic study of miscarriages after IVF and natural conception in women aged under and over 35 years

(2013) Anna A. Pendina et al.   JOURNAL OF ASSISTED REPRODUCTION AND GENETICS

Male-driven de novo mutations in haploid germ cells

(2013) M.-C. Gregoire et al.   MOLECULAR HUMAN REPRODUCTION

Characterization of Uterine Leiomyomas by Whole-Genome Sequencing

(2013) Miika Mehine et al.   NEW ENGLAND JOURNAL OF MEDICINE

A Familial Cri-du-Chat/5p Deletion Syndrome Resulted from Rare Maternal Complex Chromosomal Rearrangements (CCRs) and/or Possible Chromosome 5p Chromothripsis

(2013) Heng Gu et al.   PLoS One

Chromothripsis under the microscope: a cytogenetic perspective of two cases of AML with catastrophic chromosome rearrangement

(2013) Ruth N. MacKinnon et al.   Cancer Genetics

Micronuclei in genotoxicity assessment: from genetics to epigenetics and beyond

(2013) Lidiya Luzhna et al.   Frontiers in Genetics

Chromothripsis and Human Disease: Piecing Together the Shattering Process

(2012) Christopher A. Maher et al.   CELL

Genome Sequencing of Pediatric Medulloblastoma Links Catastrophic DNA Rearrangements with TP53 Mutations

(2012) Tobias Rausch et al.   CELL

Chromothripsis: Chromosomes in Crisis

(2012) Mathew J.K. Jones et al.   DEVELOPMENTAL CELL

Direct and delayed X-ray-induced DNA damage in male mouse germ cells

(2012) Eugenia Cordelli et al.   ENVIRONMENTAL AND MOLECULAR MUTAGENESIS

Cell survival, DNA damage, and oncogenic transformation after a transient and reversible apoptotic response

(2012) Ho Lam Tang et al.   MOLECULAR BIOLOGY OF THE CELL

DNA breaks and chromosome pulverization from errors in mitosis

(2012) Karen Crasta et al.   NATURE

Sequencing of neuroblastoma identifies chromothripsis and defects in neuritogenesis genes

(2012) Jan J. Molenaar et al.   NATURE

Subgroup-specific structural variation across 1,000 medulloblastoma genomes

(2012) Paul A. Northcott et al.   NATURE

Complex reorganization and predominant non-homologous repair following chromosomal breakage in karyotypically balanced germline rearrangements and transgenic integration

(2012) Colby Chiang et al.   NATURE GENETICS

Chromoanagenesis and cancer: mechanisms and consequences of localized, complex chromosomal rearrangements

(2012) Andrew J Holland et al.   NATURE MEDICINE

Dynamic blastomere behaviour reflects human embryo ploidy by the four-cell stage

(2012) Shawn L. Chavez et al.   Nature Communications

Constitutional Chromothripsis Rearrangements Involve Clustered Double-Stranded DNA Breaks and Nonhomologous Repair Mechanisms

(2012) Wigard P. Kloosterman et al.   Cell Reports

Cancer Genomes Evolve by Pulverizing Single Chromosomes

(2011) Matthew Meyerson et al.   CELL

Massive Genomic Rearrangement Acquired in a Single Catastrophic Event during Cancer Development

(2011) Philip J. Stephens et al.   CELL

Chromosome Catastrophes Involve Replication Mechanisms Generating Complex Genomic Rearrangements

(2011) Pengfei Liu et al.   CELL

Paternal cranial irradiation induces distant bystander DNA damage in the germline and leads to epigenetic alterations in the offspring

(2011) Jan Tamminga et al.   CELL CYCLE

Chromothripsis as a mechanism driving complex de novo structural rearrangements in the germline†

(2011) Wigard P. Kloosterman et al.   HUMAN MOLECULAR GENETICS

When catastrophe strikes a cell

(2011) Jose M. C. Tubio et al.   NATURE

The genomic complexity of primary human prostate cancer

(2011) Michael F. Berger et al.   NATURE

microRNAome changes in bystander three-dimensional human tissue models suggest priming of apoptotic pathways

(2010) Olga Kovalchuk et al.   CARCINOGENESIS

Complex chromosome rearrangements:Report of a new case and literature review

(2010) G. S. Pai et al.   CLINICAL GENETICS

Assembly algorithms for next-generation sequencing data

(2010) Jason R. Miller et al.   GENOMICS

Endonuclease-sensitive regions of human spermatozoal chromatin are highly enriched in promoter and CTCF binding sequences

(2009) A. Arpanahi et al.   GENOME RESEARCH

CHROMOSOME DAMAGE ASSOCIATED WITH THE MEASLES VIRUS IN VITRO1

(2009) WARREN W. NICHOLS et al.   HEREDITAS

Oxidative DNA damage impairs global sperm DNA methylation in infertile men

(2009) Ozlem Tunc et al.   JOURNAL OF ASSISTED REPRODUCTION AND GENETICS

A Microhomology-Mediated Break-Induced Replication Model for the Origin of Human Copy Number Variation

(2009) P. J. Hastings et al.   PLoS Genetics

Chromatin structure influences the sensitivity of DNA to γ-radiation

(2008) Martin Falk et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR CELL RESEARCH

In Vivo Bystander Effect: Cranial X-Irradiation Leads to Elevated DNA Damage, Altered Cellular Proliferation and Apoptosis, and Increased p53 Levels in Shielded Spleen

(2008) Igor Koturbash et al.   INTERNATIONAL JOURNAL OF RADIATION ONCOLOGY BIOLOGY PHYSICS

Segmental Duplications Arise from Pol32-Dependent Repair of Broken Forks through Two Alternative Replication-Based Mechanisms

(2008) Celia Payen et al.   PLoS Genetics