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Concordance Between Tumor and Germline DNA

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Book cover Genomics and Pharmacogenomics in Anticancer Drug Development and Clinical Response

Part of the book series: Cancer Drug Discovery and Development™ ((CDD&D))

Summary

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.

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Acknowledgements

The author is supported by UO1 GM63340 and R21 CA113491.

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Authors and Affiliations

  1. Division of Molecular Oncology, Washington University, St. Louis, Missouri, USA

    Sharon Marsh PhD

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  1. Sharon Marsh PhD
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Editors and Affiliations

  1. Department of Medicine, Section of Hematology/Oncology, University of Chicago, 5841 South Maryland Avenue, Chicago, IL 60637-1470, USA

    Federico Innocenti

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

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Marsh, S. (2008). Concordance Between Tumor and Germline DNA. In: Innocenti, F. (eds) Genomics and Pharmacogenomics in Anticancer Drug Development and Clinical Response. Cancer Drug Discovery and Development™. Humana Press. https://doi.org/10.1007/978-1-60327-088-5_7

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