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Utilization of Multigene Panels in Hereditary Cancer Predisposition Testing

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Next Generation Sequencing in Cancer Research, Volume 2

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Abstract

Hereditary cancer diagnostics is rapidly evolving with the increased availability and uptake of next-generation sequencing (NGS)-based multigene panels. Multigene panels offer several advantages such as time- and cost-effectiveness, and have been shown to be a useful diagnostic tool, particularly for cases suggestive of multiple different hereditary cancer conditions and for atypical phenotypes. However, there are many important considerations in the clinical use of multigene panels in hereditary cancer predisposition testing, from both clinic and laboratory perspectives. There are currently limited resources to guide clinicians in ordering multigene panels and managing patients with significant findings in lesser known genes. In addition, the development of clinical grade NGS-based panels is complex, and laboratories differ in various aspects of testing methodology. In this chapter, we review the various aspects of multigene panel workflow including target enrichment, NGS, bioinformatics, and interpretation of results. Results from our laboratory’s experience with over 20,000 hereditary cancer panel cases are also summarized, with a focus on frequently mutated moderate penetrance genes, atypical phenotypes, and mosaic results.

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Author information

Authors and Affiliations

  1. Department of Clinical Diagnostics, Ambry Genetics, 15 Argonaut, Aliso Viejo, CA, 92656, USA

    Holly LaDuca, Tina Pesaran, Virginia Speare, Jill S. Dolinsky, Chia-Ling Gau & Elizabeth Chao

  2. Department of Research and Development, Ambry Genetics, 15 Argonaut, Aliso Viejo, CA, 92656, USA

    Aaron M. Elliott

  3. Department of Pediatrics, Division of Genetics and Metabolism, University of California, Irvine, Irvine, CA, 92697, USA

    Elizabeth Chao

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  1. Holly LaDuca
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  2. Tina Pesaran
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  3. Aaron M. Elliott
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  4. Virginia Speare
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  5. Jill S. Dolinsky
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  6. Chia-Ling Gau
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  7. Elizabeth Chao
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Correspondence to Holly LaDuca .

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Editors and Affiliations

  1. Department of Pathology and Laboratory, Medicine, Southern Alberta Cancer Research Institute, University of Calgary, Calgary, Alberta, Canada

    Wei Wu

  2. Faculty of Science, Biochemistry Department, Center of Innovation in Personalized Medicine, King Fahd Center for Medical Research, King Abdulaziz University, Jeddah, Saudi Arabia

    Hani Choudhry

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LaDuca, H. et al. (2015). Utilization of Multigene Panels in Hereditary Cancer Predisposition Testing. In: Wu, W., Choudhry, H. (eds) Next Generation Sequencing in Cancer Research, Volume 2. Springer, Cham. https://doi.org/10.1007/978-3-319-15811-2_26

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