Skip to main content

Thank you for visiting nature.com. You are using a browser version with limited support for CSS. To obtain the best experience, we recommend you use a more up to date browser (or turn off compatibility mode in Internet Explorer). In the meantime, to ensure continued support, we are displaying the site without styles and JavaScript.

  • Article
  • Published:

A breakpoint map of recurrent chromosomal rearrangements in human neoplasia

Abstract

Cytogenetic studies over the past few decades have revealed clonal chromosomal aberrations in almost 27,000 human neoplasms. Many of these neoplasia-associated chromosomal abnormalities have been characterised at the molecular level, revealing previously unknown genes that are closely associated with the tumorigenic process. Information on chromosome changes in neoplasia is growing rapidly, making it difficult to identify all recurrent chromosomal aberrations. We have developed a computer program to ascertain, for the first time, all recurrent structural abnormalities in all haematological malignancies and solid tumours published up to June 19%. Out of 26,523 cases, a total of 215 balanced and 1,588 unbalanced recurrent aberrations were identified among 75 different neoplastic disorders. Our compilation of all recurrent balanced and unbalanced neoplasia-associated rearrangements should help in directing future efforts aimed at identifying the molecular mechanisms involved in tumorigenesis.

This is a preview of subscription content, access via your institution

Access options

Buy this article

Prices may be subject to local taxes which are calculated during checkout

Similar content being viewed by others

References

  1. von Hansemann, D. Ueber asymmetrische zelltheilung in epitelkrebsen und deren biologische bedeutung. Virchows Arch. A. Pathol. Anat. 119, 299–326 (1890).

    Article  Google Scholar 

  2. Boveri, T. ZurFrage der Entstehung maligner Tumoren. (Verlag von Gustav Fischer, Jena, 1914).

  3. Levan,A. Some current problems of cancer cytogenetics. Hereditas 57, 343–355 (1967).

    Article  CAS  Google Scholar 

  4. Koller, P.C., Role of Chromosomes in Cancer Biology. Recent Results in Cancer Research, vol 38. (Springer Verlag, Berlin, 1972).

    Google Scholar 

  5. Sandberg, A.A. The Chromosomes in Human Cancer and Leukemia, 2nd edn. (Elsevier, New York, 1990).

    Google Scholar 

  6. Winge, Ö Zytologische untersuchungen über die natur maligner tumoren. II. teerkarzinomen bei mäusen. Z. Zellforsch. Mikrosk. Anat. 10, 683–735 (1930).

    Article  Google Scholar 

  7. Nowell, P.C. & Hungerford, D.A. A minute chromosome in human chronic granulocytic leukemia. Science 132, 1497 (1960).

    Google Scholar 

  8. Bayreuther, K. Chromosomes in primary neoplastic growth. Nature 186, 6–9 (1960).

    Article  CAS  Google Scholar 

  9. Caspersson, T., Zech, L., & Johansson, C. Differential binding of alkylating fluorochromes in human chromosomes. Exp. Cell Res. 60, 315–319 (1970).

    Article  CAS  Google Scholar 

  10. Mitelman, F. Catalog of Chromosome Aberrations in Cancer, 5th edn. (Wiley-Liss, New York, 1994).

    Google Scholar 

  11. Rabbitts, .H. Chromosomal translocations in human cancer. Nature 372, 143–149 (1994).

    Article  CAS  Google Scholar 

  12. Heim, S. & Mitelman, F. Cancer Cytogenetics, 2nd edn. (Wiley-Liss, New York, 1995).

    Google Scholar 

  13. Klein, G. Multiple phenotypic consequences of the IglMyc translocation in B-cell-derived tumors. Genes Chromosom. Cancer 1, 3–8 (1989).

    Article  CAS  Google Scholar 

  14. Rowley, J.D., Philadelphia chromosome translocation. A paradigm for understanding leukemia. Cancer 65, 2178–2184 (1990).

    Article  CAS  Google Scholar 

  15. Knudson, A.G. Hereditary cancer, oncogenes, and antioncogenes. Cancer Res. 45, 1437–1443 (1985).

    CAS  PubMed  Google Scholar 

  16. Stanbridge, E.J. Functional evidence for human tumour suppressor genes: Chromosome and molecular genetic studies. Cancer Surv. 12, 5–24 (1992).

    CAS  PubMed  Google Scholar 

  17. Weinberg, R.A. Oncogenes and tumor suppressor genes. CA Cancer J. Clin. 44, 160–170 (1994).

    Article  CAS  Google Scholar 

  18. Knudson, A.G. Mutation and cancer: A personal odyssey. Adv. Cancer Res. 67, 1–23 (1995).

    Article  CAS  Google Scholar 

  19. Rowley, J.D., Aster, J.C. & Sklar, J. The clinical applications of new DNA diagnostic technology on the management of cancer patients. JAMA 270, 2331–2337 (1993).

    Article  CAS  Google Scholar 

  20. Mitelman, F., Johansson, B., Mandahl, N. & Mertens, F. Clinical significance of cytogenetic findings in solid tumors. Cancer Genet. Cytogenet. (in the press).

  21. Berger, R., Bernheim, A. & de la Chapelle, A. Chromosome rearrangements in acquired malignant disease. Cytogenet Cell Genet. 32, 205–207 (1982).

    Article  CAS  Google Scholar 

  22. Mitelman, F., Kaneko, Y. & Berger, R. Report of the committee on chromosome changes in neoplasia. In Human Gene Mapping 1995: A Compendium (eds. AJ. Cuticchia, M.A. Chipperfield & P.A. Foster) 1332–1350 (Johns Hopkins University Press, Baltimore, 1996).

    Google Scholar 

  23. Speicher, M.R., Gwyn Ballard, S. & Ward, D.C. Karyotyping human chromosomes by combinatorial multi-fluor FISH. Nature Genet. 12, 368–375 (1996).

    Article  CAS  Google Scholar 

  24. Schröck et al. Multicolor spectral karyotyping of human chromosomes. Science 273, 494–497 (1996).

    Article  Google Scholar 

  25. Cleary, M.L. Oncogenic conversion of transcription factors by chromosomal translocations. Cell 67, 619–622 (1991).

    Article  Google Scholar 

  26. Rabbitts, T.H. Transclocations, master genes, and differences between the origins of acute and chronic leukemias. Cell 67, 641–644 (1991).

    Article  CAS  Google Scholar 

  27. Huebner, K., Nowell, P.C. & Croce, C.M. Lineage-specific gene rearrangement/deletion: A nonconservative model. Cancer Res. 49, 4071–4074 (1989).

    CAS  PubMed  Google Scholar 

Download references

Author information

Authors and Affiliations

Authors

Rights and permissions

Reprints and permissions

About this article

Cite this article

Mitelman, F., Mertens, F. & Johansson, B. A breakpoint map of recurrent chromosomal rearrangements in human neoplasia. Nat Genet 15 (Suppl 4), 417–474 (1997). https://doi.org/10.1038/ng0497supp-417

Download citation

  • Issue Date:

  • DOI: https://doi.org/10.1038/ng0497supp-417

This article is cited by

Search

Quick links

Nature Briefing

Sign up for the Nature Briefing newsletter — what matters in science, free to your inbox daily.

Get the most important science stories of the day, free in your inbox. Sign up for Nature Briefing