chromosome breakpoints


Summary: The locations in specific DNA sequences where CHROMOSOME BREAKS have occurred.

Top Publications

  1. Ross D, O Hely M, Bartley P, Dang P, Score J, Goyne J, et al. Distribution of genomic breakpoints in chronic myeloid leukemia: analysis of 308 patients. Leukemia. 2013;27:2105-7 pubmed publisher
  2. Sullivan P. Questions about DISC1 as a genetic risk factor for schizophrenia. Mol Psychiatry. 2013;18:1050-2 pubmed publisher
  3. Yang J, Park T, Lee S, Seo J, Oh S, Cho E, et al. Molecular characterization and clinical course of MLL-ACTN4 rearrangement in therapy-related hematologic malignancies. Haematologica. 2014;99:e49-51 pubmed publisher
  4. Wang Q, Shi N, Shang Y, Liu X, Fu W, Zhao Y, et al. Comprehensive molecular characterization of a transgenic pig expressing hCD46 gene. Gene. 2017;626:376-385 pubmed publisher
    ..In consequence, NGS combined bioinformatics analysis is a reliable and accurate approach for the molecular characterization of GMOs, even for the safety evaluation. ..
  5. Nussenzveig R, Vanhille D, Hussey D, Reading N, Agarwal A. Development of a rapid multiplex PCR assay for identification of the three common Hemoglobin-Lepore variants (Boston-Washington, Baltimore, and Hollandia) and identification of a new Lepore variant. Am J Hematol. 2012;87:E74-5 pubmed publisher
  6. Lin Y, Nurk S, Pevzner P. What is the difference between the breakpoint graph and the de Bruijn graph?. BMC Genomics. 2014;15 Suppl 6:S6 pubmed publisher
    ..The explicit description of the connection between these important data structures provides a bridge between two previously separated bioinformatics communities studying genome rearrangements and genome assembly. ..
  7. Macheret M, Halazonetis T. Intragenic origins due to short G1 phases underlie oncogene-induced DNA replication stress. Nature. 2018;555:112-116 pubmed publisher
    ..Thus, firing of intragenic origins caused by premature S phase entry represents a mechanism of oncogene-induced DNA replication stress that is relevant for genomic instability in human cancer. ..
  8. Douet Guilbert N, Chauveau A, Gueganic N, Guillerm G, Tous C, LE Bris M, et al. Acute myeloid leukaemia (FAB AML-M4Eo) with cryptic insertion of cbfb resulting in cbfb-Myh11 fusion. Hematol Oncol. 2017;35:385-389 pubmed publisher
    ..Although very rare, insertions should be searched for in patients with discordant cytological and cytogenetic features because of the therapeutic consequences. Copyright © 2015 John Wiley & Sons, Ltd. ..
  9. Zepeda Mendoza C, Ibn Salem J, Kammin T, Harris D, Rita D, Gripp K, et al. Computational Prediction of Position Effects of Apparently Balanced Human Chromosomal Rearrangements. Am J Hum Genet. 2017;101:206-217 pubmed publisher

More Information


  1. Henssen A, Koche R, Zhuang J, Jiang E, Reed C, Eisenberg A, et al. PGBD5 promotes site-specific oncogenic mutations in human tumors. Nat Genet. 2017;49:1005-1014 pubmed publisher
    ..These results define PGBD5 as an oncogenic mutator and provide a plausible mechanism for site-specific DNA rearrangements in childhood and adult solid tumors. ..
  2. Clark B, Shooter C, Smith F, Brawand D, Thein S. Next-generation sequencing as a tool for breakpoint analysis in rearrangements of the globin gene clusters. Int J Lab Hematol. 2017;39 Suppl 1:111-120 pubmed publisher
    ..The combined NGS and bioinformatic strategy has proven to be highly successful and applicable to routine diagnostics. ..
  3. Bartenhagen C, Dugas M. Robust and exact structural variation detection with paired-end and soft-clipped alignments: SoftSV compared with eight algorithms. Brief Bioinform. 2016;17:51-62 pubmed publisher
    ..Sensitivities above 85% and positive predictive values between 80 and 100% could be achieved consistently for all SV types on simulated data sets starting at relatively short 75 bp reads and low 10-15× sequence coverage. ..
  4. Fernandez Cuesta L, Sun R, Menon R, George J, Lorenz S, Meza Zepeda L, et al. Identification of novel fusion genes in lung cancer using breakpoint assembly of transcriptome sequencing data. Genome Biol. 2015;16:7 pubmed publisher
  5. Weinreb C, Oesper L, Raphael B. Open adjacencies and k-breaks: detecting simultaneous rearrangements in cancer genomes. BMC Genomics. 2014;15 Suppl 6:S4 pubmed publisher
    ..These results lend support to the existence of simultaneous rearrangements, but also demonstrate the difficulty of characterizing such rearrangements using different criterion. ..
  6. Jamshidpey A, Jamshidpey A, Sankoff D. Sets of medians in the non-geodesic pseudometric space of unsigned genomes with breakpoints. BMC Genomics. 2014;15 Suppl 6:S3 pubmed publisher
    ..We also prove the conjecture that the input permutations themselves are medians. ..
  7. Layer R, Chiang C, Quinlan A, Hall I. LUMPY: a probabilistic framework for structural variant discovery. Genome Biol. 2014;15:R84 pubmed publisher
    ..We also report a set of 4,564 validated breakpoints from the NA12878 human genome. ..
  8. Marotta M, Chen X, Inoshita A, Stephens R, Budd G, Crowe J, et al. A common copy-number breakpoint of ERBB2 amplification in breast cancer colocalizes with a complex block of segmental duplications. Breast Cancer Res. 2012;14:R150 pubmed publisher
    ..The haplotypes we provide could be useful to identify the potential association between the complex region and ERBB2 amplification. ..
  9. Ni X, Xia Q, Zhang H, Cheng S, Li H, Fan G, et al. Updated foxtail millet genome assembly and gene mapping of nine key agronomic traits by resequencing a RIL population. Gigascience. 2017;6:1-8 pubmed publisher
    ..The whole genome resequencing and QTL mapping provided important tools for foxtail millet research and breeding. Resequencing of the RILs could also provide an effective way for high-quality genome assembly and gene identification. ..
  10. Rostami G, Hamid M, Jalaeikhoo H. Impact of the BCR-ABL1 fusion transcripts on different responses to Imatinib and disease recurrence in Iranian patients with Chronic Myeloid Leukemia. Gene. 2017;627:202-206 pubmed publisher
  11. Vogt J, Bengesser K, Claes K, Wimmer K, Mautner V, van Minkelen R, et al. SVA retrotransposon insertion-associated deletion represents a novel mutational mechanism underlying large genomic copy number changes with non-recurrent breakpoints. Genome Biol. 2014;15:R80 pubmed publisher
  12. Chen K, Navin N, Wang Y, Schmidt H, Wallis J, Niu B, et al. BreakTrans: uncovering the genomic architecture of gene fusions. Genome Biol. 2013;14:R87 pubmed publisher
    ..Applying BreakTrans to 43 breast cancer samples in The Cancer Genome Atlas identifies 90 genomically validated gene fusions. BreakTrans is available at ..