Abstract
Cancer cells exhibit nonrandom and complex chromosome abnormalities. The role of genomic changes in cancer is well established. However, the identification of complex and cryptic chromosomal changes is beyond the resolution of conventional banding methods. The fluorescence microscopy afforded by imaging technologies, developed recently, facilitates a precise identification of these chromosome alterations in cancer. The three most commonly utilized molecular cytogenetics methods comparative genomic hybridization, spectral karyotype, and fluorescence in situ hybridization, that have already become benchmark tools in cancer cytogenetics, are described in this chapter. Comparative genomic hybridization is a powerful tool for screening copy-number changes in tumor genomes without the need for preparation of metaphases from tumor cells. Multicolor spectral karyotype permits visualization of all chromosomes in one experiment permitting identification of precise chromosomal changes on metaphases derived from tumor cells. The uses of fluorescence in situ hybridization are diverse, including mapping of alteration in single copy genes, chromosomal regions, or entire chromosomes. The opportunities to detect genetic alterations in cancer cells continue to evolve with the use of these methodologies both in diagnosis and research.
Key Words
This is a preview of subscription content, log in via an institution.
Buying options
Tax calculation will be finalised at checkout
Purchases are for personal use only
Learn about institutional subscriptionsReferences
Kallioniemi, A., Kallioniemi, O.-P., Sudar, D., et al. (1992) Comparative genomic hybridization for molecular cytogenetic analysis of solid tumors. Science 258, 818–821.
Rao, P. H., Cigudosa, J. C., Ning, Y., et al. (1998) Multicolor spectral karyotyping identifies new recurring breakpoints and translocations in multiple myeloma. Blood 92, 1743–1748.
Singh, B., Gogineni, S. K., Sacks, P. G., et al. (2001) Molecular cytogenetic characterization of head and neck squamous cell carcinoma and refinement of 3q amplification. Cancer Res. 61, 4506–4513.
Speicher, M. R., Ballard, S. G., and Ward, D. C. (1996) Karyotyping human chromosomes by combinatorial multi-fluor FISH. Nat. Genet. 14, 312.
Schrock, E., du Manoir, S., Veldman, T., et al. (1996) Multicolor spectral karyotyping of human chromosomes. Science 273, 494–497.
Pinkel, D., Segraves, R., Sudar, D., et al. (1998) High resolution analysis of DNA copy number variation using comparative genomic hybridization to microarrays. Nat. Genet. 20, 207–211.
Cai, W. W., Mao, J. H., Chow, C. W., Damani, S., Balmain, A., and Bradley, A. (2002) Genome-wide detection of chromosomal imbalances in tumors using BAC microarrays. Nat. Biotechnol. 20, 393–396.
Trask, J. B. (1991) Fluorescence in situ hybridization: applications in cytogenetics and gene mapping. TIG 7, 149–154.
Heiskanen, M., Peltonen, L., and Paloticm, A. (1996) Visual mapping by high resolution FISH. TIG 12, 379–382.
Sambrook, J., Fritsch, E. F., and Maniatis, T. (1989) Molecular Cloning, A Laboratory Manual, 2nd ed. Cold Spring Harbor Laboratory Press, New York.
Kallioniemi, O. P., Kallioniemi, A., Piper, J., et al. (1994) Optimizing comparative genomic hybridization for analysis of DNA sequence copy number changes in solid tumors. Genes Chromosomes Cancer 10, 231–243.
Lasken, R. S. and Egholm, M. (2003) Whole genome amplification: abundant supplies of DNA from precious samples or clinical specimens. Trends Biotechnol. 21, 531–535.
du Manoir, S., Kallioniemi, O. P., Lichter, P., et al. (1995) Hardware and software requirements for quantitative analysis of comparative genomic hybridization. Cytometry 19, 4–9.
Piper, J., Rutovitz, D., Sudar, D., et al. (1995) Computer image analysis of comparative genomic hybridization. Cytometry 19, 10–26.
Rooney, D. E. (ed.) (2001) Human Cytogenetics: Malignancy and Acquired Abnormalities. Oxford University Press, New York.
Verma, R. S. and Babu, A. (eds) (1995) Human Chromosomes: Principles and Techniques. McGraw-Hill, New York.
Hauptschein, R., Gamberi, B., Rao, P. H., et al. (1998) Cloning and mapping of human chromosome 6q26-27 deleted in B-cell non-Hodgkin’s lymphoma and multiple tumor types. Genomics 50, 170–186.
Author information
Authors and Affiliations
Editor information
Editors and Affiliations
Rights and permissions
Copyright information
© 2007 Humana Press Inc., Totowa, NJ
About this protocol
Cite this protocol
Rao, P.H., Nandula, S.V., Murty, V.V. (2007). Molecular Cytogenetic Applications in Analysis of the Cancer Genome. In: Fisher, P.B. (eds) Cancer Genomics and Proteomics. Methods in Molecularbiology™, vol 383. Humana Press. https://doi.org/10.1007/978-1-59745-335-6_11
Download citation
DOI: https://doi.org/10.1007/978-1-59745-335-6_11
Publisher Name: Humana Press
Print ISBN: 978-1-58829-504-0
Online ISBN: 978-1-59745-335-6
eBook Packages: Springer Protocols