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Coloproctology pp 1–12Cite as

Genetic Approaches to Colorectal Cancer

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Abstract

Colorectal cancer (CRC) is a significant public health problem throughout the world affecting over one million individuals every year. CRC is the third most common cancer in the U.S. and the second leading cause of cancer deaths in North America, accounting for approximately 150,000 new cases and 60,000 deaths annually. There are three major forms of colorectal cancer: sporadic (85% of cases), familial (10-30%), and hereditary (less than 10%). CRC develops from apparently normal mucosa into a benign precursor stage, the premalignant polyp, and can progress to invasive disease. There are three major molecular mechanisms identified in the pathogenesis of colorectal cancer: chromosomal instability, microsatellite instability, and aberrant methylation. The classic tumor suppressor pathway, also known as the chromosomal instability pathway (CIN), is present in approximately 70-85% of CRC cases. This traditional pathway is characterized by a mutation in the APC gene, mutation of K-ras, loss of 18q, and deletion of 17p which contains the tumor suppressor gene p53. In contrast, the microsatellite instability (MSI) or mutator pathway affects approximately 15-20% of all CRC. In the MSI pathway, there exists failure of the mismatch repair system (MMR) to repair DNA following replication. The MMR system is composed of several proteins that create complexes that maintain the fidelity of DNA during replication. Failure of the MMR complex results in detectable differences between tumor and germline DNA in the number of copies found in short repeat DNA sequences called microsatellites, which consist of repeating units of 1-6 base pairs in length. The aberrant methylor pathway refers to abnormal DNA methylation patterns as a way of regulating gene transcription. Methylation of DNA can occur at cytosine bases when cytosine and guanosine occur in a dinucleotide pair, known as CpG islands. Hypermethylation of the CpG islands found within the promoter sequence of the genes will result in transcriptional silencing of the methylated genes. This chapter reviews the recent developments in defining CRC pathways.

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Authors and Affiliations

  1. University of Peurto Rico Cancer Center, San Juan, PR, USA

    Raul D. Bernabe & Marcia R. Cruz-Correa

  2. Department of Surgery, Royal University Hospital, University of Saskatchewan, Saskatoon, Canada

    Ronghua Zhao

Authors
  1. Raul D. Bernabe
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  2. Ronghua Zhao
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  3. Marcia R. Cruz-Correa
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Corresponding author

Correspondence to Marcia R. Cruz-Correa .

Editor information

Editors and Affiliations

  1. University of New England, Tamworth, NSW, 2340, Australia

    Andrew P. Zbar

  2. Dept. Colorectal Surgery, Cleveland Clinic Florida, Cleveland Clinic Blvd. 2950, Weston, 33331, USA

    Steven D. Wexner

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© 2010 Springer-Verlag London Limited

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Bernabe, R.D., Zhao, R., Cruz-Correa, M.R. (2010). Genetic Approaches to Colorectal Cancer. In: Zbar, A., Wexner, S. (eds) Coloproctology. Springer Specialist Surgery Series. Springer, London. https://doi.org/10.1007/978-1-84882-756-1_1

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  • DOI: https://doi.org/10.1007/978-1-84882-756-1_1

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