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Analysis of Inherited and Acquired Genetic Variation

  • Srinivasan Yegnasubramanian
  • William B. Isaacs
Chapter
Part of the Applied Bioinformatics and Biostatistics in Cancer Research book series (ABB)

Abstract

Cancer is a genetic disease. While this statement is accurate, its simplicity betrays the underlying complexity of the genetic alterations. The first layer of complexity comes from the contribution of inherited vs. acquired genetic variation in cancer initiation and disease progression. Several other layers of complexity come from the myriad types of genetic variation, such as point mutations, amplifications, deletions, translocations, inversions, etc., that have been directly and causally linked with human malignancies. Additional layers of complexity arise from the interactions of genetic alterations with environmental exposures to drive further genetic as well as epigenetic alterations. In this chapter, we will introduce the modern tools available to decipher the complex genetic variation contributing to the initiation and progression of cancer. In Chaps. 3 and 4, we will introduce the modern tools available for understanding epigenetic alterations, such as heritable patterns in DNA/chromatin and protein interactions and DNA methylation.

Keywords

Adenomatous Polyposis Coli Metaphase Spread Single Nucleotide Polymorphism Array Adenomatous Polyposis Coli Gene Copy Number Loss 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

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Copyright information

© Springer Science+Business Media, LLC 2010

Authors and Affiliations

  • Srinivasan Yegnasubramanian
    • 1
  • William B. Isaacs
  1. 1.Sidney Kimmel Comprehensive Cancer CenterJohns Hopkins University, School of MedicineBaltimoreUSA

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