ArticleBMC genomics2014
Chromosome-breakage genomic instability and chromothripsis in breast cancer.
Article in BMC genomics, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 28 papers.
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Who cites it
28 citing papers in PubMed, 62 citations in OpenAlex.
- ERBB2/HOXB13 co-amplification with interstitial loss of BRCA1 defines a unique subset of breast cancers.Breast cancer research : BCR · 2024Article
- Applying whole-genome and whole-exome sequencing in breast cancer: a review of the landscape.Breast cancer (Tokyo, Japan) · 2024Review
- Beyond the Chromosome: Recent Developments in Decoding the Significance of Extrachromosomal Circular DNA (eccDNA) in Human Malignancies.Life (Basel, Switzerland) · 2024Review
- Scrambling the genome in cancer: causes and consequences of complex chromosome rearrangements.Nature reviews. Genetics · 2024Review
- Neuroblastoma Patients' Outcome and Chromosomal Instability.International journal of molecular sciences · 2023Article
- Isogenic Cell Lines Derived from Specific Organ Metastases Exhibit Divergent Cytogenomic Aberrations.Cancers · 2023Article
- Extrachromosomal circular DNA (eccDNA): an emerging star in cancer.Biomarker research · 2022Review
- Evolutionary dynamics in Barrett oesophagus: implications for surveillance, risk stratification and therapy.Nature reviews. Gastroenterology & hepatology · 2022Review
- Focal amplifications are associated with chromothripsis events and diverse prognoses in gastric cardia adenocarcinoma.Nature communications · 2021Article
- Chromoanagenesis from radiation-induced genome damage in Populus.PLoS genetics · 2021Article
- Chromothripsis-Explosion in Genetic Science.Cells · 2021Review
- Prevalence and Phenotypic Impact of Robertsonian Translocations.Molecular syndromology · 2021Review
- Short somatic alterations at the site of copy number variation in breast cancer.Cancer science · 2021Article
- Inflammatory Breast Cancer: Clinical Implications of Genomic Alterations and Mutational Profiling.Cancers · 2020Article
- ERα-related chromothripsis enhances concordant gene transcription on chromosome 17q11.1-q24.1 in luminal breast cancer.BMC medical genomics · 2020Article
- NOTCH and DNA repair pathways are more frequently targeted by genomic alterations in inflammatory than in non-inflammatory breast cancers.Molecular oncology · 2020Article
- On the Complexity of Mechanisms and Consequences of Chromothripsis: An Update.Frontiers in genetics · 2019Review
- Clonal analyses of refractory testicular germ cell tumors.PloS one · 2019Article
- Chromosomal rearrangements in uveal melanoma: Chromothripsis.Genes, chromosomes & cancer · 2018Article
- Chromothripsis in acute myeloid leukemia: biological features and impact on survival.Leukemia · 2018Article
Corrections and comments
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Authors and funding
7 authors at 4 institutions in 2 countries.
Funding
Abstract
backgroundChromosomal breakage followed by faulty DNA repair leads to gene amplifications and deletions in cancers. However, the mere assessment of the extent of genomic changes, amplifications and deletions may reduce the complexity of genomic data observed by array comparative genomic hybridization (array CGH). We present here a novel approach to array CGH data analysis, which focuses on putative breakpoints responsible for rearrangements within the genome.
resultsWe performed array comparative genomic hybridization in 29 primary tumors from high risk patients with breast cancer. The specimens were flow sorted according to ploidy to increase tumor cell purity prior to array CGH. We describe the number of chromosomal breaks as well as the patterns of breaks on individual chromosomes in each tumor. There were differences in chromosomal breakage patterns between the 3 clinical subtypes of breast cancers, although the highest density of breaks occurred at chromosome 17 in all subtypes, suggesting a particular proclivity of this chromosome for breaks. We also observed chromothripsis affecting various chromosomes in 41% of high risk breast cancers.
conclusionsOur results provide a new insight into the genomic complexity of breast cancer. Genomic instability dependent on chromosomal breakage events is not stochastic, targeting some chromosomes clearly more than others. We report a much higher percentage of chromothripsis than described previously in other cancers and this suggests that massive genomic rearrangements occurring in a single catastrophic event may shape many breast cancer genomes.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.