ArticleGenome research2011
Large duplications at reciprocal translocation breakpoints that might be the counterpart of large deletions and could arise from stalled replication bubbles.
Article in Genome research, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 24 papers, 1 of them a synthesis that pooled it.
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Who cites it
24 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Balanced into array: genome-wide array analysis in 54 patients with an apparently balanced de novo chromosome rearrangement and a meta-analysis.European journal of human genetics : EJHG · 2011Pooled it
- Detection of a complex chromosomal rearrangement in a novel mouse mutant by optical genome mapping.Mammalian genome : official journal of the International Mammalian Genome Society · 2026Article
- A complex reciprocal translocation is linked to reduced gamete viability in a loose-bunch grapevine somatic variant.BMC plant biology · 2026Article
- Exploring the size limits of Bionano optical genome mapping to resolve alternative structures of linked interspersed chromosomal duplications.Genome medicine · 2025Article
- Detection of a Cryptic 25 bp Deletion and a 269 Kb Microduplication by Nanopore Sequencing in a Seemingly Balanced Translocation Involving the LMLN and LOC105378102 Genes.Frontiers in genetics · 2022Article
- Location of Balanced Chromosome-Translocation Breakpoints by Long-Read Sequencing on the Oxford Nanopore Platform.Frontiers in genetics · 2019Article
- Frequent occurrence of large duplications at reciprocal genomic rearrangement breakpoints in multiple myeloma and other tumors.Nucleic acids research · 2016Article
- PREVENTING THE CHROMOSOMAL TRANSLOCATIONS THAT CAUSE CANCER.Transactions of the American Clinical and Climatological Association · 2016Article
- RVD2: an ultra-sensitive variant detection model for low-depth heterogeneous next-generation sequencing data.Bioinformatics (Oxford, England) · 2015Article
- Mobile element insertions are frequent in oesophageal adenocarcinomas and can mislead paired-end sequencing analysis.BMC genomics · 2015Article
- Mechanisms of gene duplication and amplification.Cold Spring Harbor perspectives in biology · 2015Review
- Article
- Breakpoint profiling of 64 cancer genomes reveals numerous complex rearrangements spawned by homology-independent mechanisms.Genome research · 2013Article
- Noninvasive detection of fetal subchromosome abnormalities via deep sequencing of maternal plasma.American journal of human genetics · 2013Article
- Bellerophon: a hybrid method for detecting interchromosomal rearrangements at base pair resolution using next-generation sequencing data.BMC bioinformatics · 2013Article
- The relative timing of mutations in a breast cancer genome.PloS one · 2013Article
- Structural analysis of the genome of breast cancer cell line ZR-75-30 identifies twelve expressed fusion genes.BMC genomics · 2012Article
- Genome-wide sequencing for the identification of rearrangements associated with Tourette syndrome and obsessive-compulsive disorder.BMC medical genetics · 2012Article
- Chromothripsis: chromosomes in crisis.Developmental cell · 2012Review
- Article
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7 authors.
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Abstract
Reciprocal chromosome translocations are often not exactly reciprocal. Most familiar are deletions at the breakpoints, up to megabases in extent. We describe here the opposite phenomenon-duplication of tens or hundreds of kilobases at the breakpoint junction, so that the same sequence is present on both products of a translocation. When the products of the translocation are mapped on the genome, they overlap. We report several of these "overlapping-breakpoint" duplications in breast cancer cell lines HCC1187, HCC1806, and DU4475. These lines also had deletions and essentially balanced translocations. In HCC1187 and HCC1806, we identified five cases of duplication ranging between 46 kb and 200 kb, with the partner chromosome showing deletions between 29 bp and 31 Mb. DU4475 had a duplication of at least 200 kb. Breakpoints were mapped using array painting, i.e., hybridization of chromosomes isolated by flow cytometry to custom oligonucleotide microarrays. Duplications were verified by fluorescent in situ hybridization (FISH), PCR on isolated chromosomes, and cloning of breakpoints. We propose that these duplications are the counterpart of deletions and that they are produced at a replication bubble, comprising two replication forks with the duplicated sequence in between. Both copies of the duplicated sequence would go to one daughter cell, on different products of the translocation, while the other daughter cell would show deletion. These duplications may have been overlooked because they may be missed by FISH and array-CGH and may be interpreted as insertions by paired-end sequencing. Such duplications may therefore be quite frequent.
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