IMR Press / FBL / Volume 13 / Issue 15 / DOI: 10.2741/3127

Frontiers in Bioscience-Landmark (FBL) is published by IMR Press from Volume 26 Issue 5 (2021). Previous articles were published by another publisher on a subscription basis, and they are hosted by IMR Press on as a courtesy and upon agreement with Frontiers in Bioscience.

Open Access Article
Cytogenetic biomarkers for human cancer
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1 Department of Pathology and Laboratory Medicine, UCLA Clinical and Molecular Cytogenetics Laboratory, University of California Los Angeles, Los Angeles, CA 90024

*Author to whom correspondence should be addressed.

Academic Editor: Xiaofeng Zhou

Front. Biosci. (Landmark Ed) 2008, 13(15), 5928–5949;
Published: 1 May 2008

Human cancer cytogenetics is the study of chromosomal rearrangements and numerical abnormalities in malignant tissue. Since the 1960s and the discovery of the Philadelphia chromosome, hundreds of common and characteristic chromosomal aberrations have been observed in various neoplasias. Because these cytogenetic aberrations provide diagnostic, prognostic, and treatment-related information for the associated cancers, they are considered biomarkers for disease. Here we describe many of the best-known chromosome rearrangements and variant rearrangements in hematologic disease and solid tumors, indicate the genes and underlying molecular mechanisms known to be involved in development and progression of disease, and describe the newer molecular cytogenetic technologies and how they are currently being used in cancer diagnostics. We also highlight many important pit-falls in obtaining, transporting, and analyzing neoplastic samples which can compromise cytogenetic studies and preclude its use as a diagnostic tool.

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