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Cancer Cytogenetics

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The Molecular Basis of Human Cancer

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Abstract

The analysis of malignant cells with cytogenetic methods, or cancer cytogenetics, has been instrumental in elucidating the genetic basis of cancer, and much of our knowledge about specific chromosomal aberrations in cancers and the molecular events they trigger is based on the detection of nonrandom, cancer-specific cytogenetic abnormalities. In this chapter we first review how the field of cancer cytogenetics developed. Then we present an in-depth overview on the evolution of cytogenetic methods, which culminated in embracing molecular techniques and the transformation of cytogenetics to array-based, high-resolution, and high-throughput formats. Next, we summarize and discuss our current knowledge of chromosomal aberrations in cancer, and explore the consequences of genomic imbalances on the transcriptome of cancer cells, with a special emphasis on cancers of epithelial origin. Finally, we summarize the most pertinent diagnostic and prognostic applications of molecular cytogenetics related to cancer.

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Acknowledgements

The authors are grateful to Dr. Hesed Padilla-Nash, Dr. Michael J. Difilippantonio, Dr. Darawalee Wangsa, Dr. Madhvi Upender, and Danny Wangsa for providing figures, Turid Knutsen for helpful comments, and Dr. Reinhard Ebner for critically reading the manuscript. We thank all members of our laboratory for their input and most of all for their dedication to cancer research. We greatly appreciate the help of Buddy Chen with creating the figures.

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Authors and Affiliations

  1. Genetics Branch, Center for Cancer Research, National Cancer Institute, National Institutes of Health, Building 50, Room 1408, 50 South Drive, Bethesda, MD, 20892, USA

    Thomas Ried M.D.

  2. Genetics Branch, Center for Cancer Research, National Cancer Institute, National Institutes of Health, Bethesda, MD, USA

    Kerstin Heselmeyer-Haddad Ph.D., Jordi Camps Ph.D. & Timo Gaiser M.D.

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  1. Thomas Ried M.D.
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  4. Timo Gaiser M.D.
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Correspondence to Thomas Ried M.D. .

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Editors and Affiliations

  1. Department of Pathology and Laboratory Medicine, Curriculum in Toxicology, UNC Program in Translational Medicine, UNC Lineberger Comprehensive Center, University of North Carolina School of Medicine, Chapel Hill, North Carolina, USA

    William B. Coleman

  2. Laboratory for Clinical Genomics and Advanced Technology (CGAT), Department of Pathology and Laboratory Medicine, Dartmouth-Hitchcock Medical Center, Norris Cotton Cancer Center, Geisel School of Medicine at Dartmouth, Lebanon, Hanover, New Hampshire, USA

    Gregory J. Tsongalis

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Ried, T., Heselmeyer-Haddad, K., Camps, J., Gaiser, T. (2017). Cancer Cytogenetics. In: Coleman, W., Tsongalis, G. (eds) The Molecular Basis of Human Cancer. Humana Press, New York, NY. https://doi.org/10.1007/978-1-59745-458-2_4

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