Germline DNA (e.g., blood, mouthwash) is the most readily accessible source of material for the identification of pharmacogenetic markers for therapy selection. However, the cancer genome is altered by many processes that could affect the expression of functional alleles in the tumor. Consequently the utility of the germline genome to predict the tumor genome is under question. Studies have suggested strong concordance between the germline and tumor genotype profiles for pharmacogenetic markers. However, genotype is only one factor involved in tumor response to chemotherapy and mechanisms such as chromosome amplification and loss, copy number variation, microsatellite instability, chromosome instability and epigenetic variation (methylation) need to be taken into account.

Key Words

Concordance chromosome amplification genotype genome germline tumor 



The author is supported by UO1 GM63340 and R21 CA113491.


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Copyright information

© Humana Press, a part of Springer Science+Business Media, LLC 2008

Authors and Affiliations

  • Sharon Marsh
    • 1
  1. 1.Division of Molecular OncologyWashington UniversitySt. LouisUSA

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