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Use of Genomewide Association Studies to Evaluate Genetic Predisposition to Testicular Germ Cell Tumors

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Testicular Germ Cell Tumors

Part of the book series: Methods in Molecular Biology ((MIMB,volume 2195))

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Abstract

Genomewide association studies (GWAS) have been widely used in recent years to identify common variants that are associated with multiple types of cancer, including testicular germ cell tumors. These studies require no a priori hypotheses and have advantages, including the ability to highlight new pathways relevant to the biology of common diseases. GWAS require collection of germline DNA from individuals with and without the disease of interest. Following DNA extraction and quantification, a variety of array based platforms are available to evaluate common and moderately rare germline variation throughout the genome in an agnostic fashion. Here, we describe DNA extraction methods from samples typically used in the evaluation of germline genetic variation (blood and saliva). We also describe assays used to assess DNA quality and quantity. Finally, we include methods describing array based genotyping using the Illumina platform and validation of relevant variants using the iPLEX Agena Multiplexed Genotyping (formerly Sequenom).

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Authors and Affiliations

  1. Division of Epidemiology and Clinical Research, Department of Pediatrics, University of Minnesota, Minneapolis, MN, USA

    Anthony J. Hooten, Erica Langer & Jenny N. Poynter

  2. Masonic Cancer Center, University of Minnesota, Minneapolis, MN, USA

    Jenny N. Poynter

Authors
  1. Anthony J. Hooten
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  2. Erica Langer
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  3. Jenny N. Poynter
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Correspondence to Jenny N. Poynter .

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Editors and Affiliations

  1. Department of Urology, UT Southwestern Medical Center, Dallas, TX, USA

    Aditya Bagrodia

  2. Cancer and Blood Disease Institute, Children’s Hospital Los Angeles, Departments of Pediatrics and Medicine, Keck School of Medicine, University of Southern California, Los Angeles, CA, USA

    James F. Amatruda

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Hooten, A.J., Langer, E., Poynter, J.N. (2021). Use of Genomewide Association Studies to Evaluate Genetic Predisposition to Testicular Germ Cell Tumors. In: Bagrodia, A., Amatruda, J.F. (eds) Testicular Germ Cell Tumors. Methods in Molecular Biology, vol 2195. Humana, New York, NY. https://doi.org/10.1007/978-1-0716-0860-9_14

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  • DOI: https://doi.org/10.1007/978-1-0716-0860-9_14

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  • Publisher Name: Humana, New York, NY

  • Print ISBN: 978-1-0716-0859-3

  • Online ISBN: 978-1-0716-0860-9

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